Marc Tischkowitz

Marc Tischkowitz

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Marc Tischkowitz

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MALTA (MYH9 ASSOCIATED ELASTIN AGGREGATION) SYNDROME: GERMLINE VARIANTS IN MYH9 CAUSE RARE SWEAT DUCT PROLIFERATIONS AND IRREGULAR ELASTIN AGGREGATIONS.

J Invest Dermatol 2019 May 21. Epub 2019 May 21.

Academic Department of Medical Genetics, University of Cambridge, UK;; East Anglian Medical Genetics Service, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Hills Road, Cambridge, UK. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2019.03.1151DOI Listing
May 2019

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.

Authors:
Frank Qian Shengfeng Wang Jonathan Mitchell Lesley McGuffog Daniel Barrowdale Goska Leslie Jan C Oosterwijk Wendy K Chung D Gareth Evans Christoph Engel Karin Kast Cora M Aalfs Muriel A Adank Julian Adlard Bjarni A Agnarsson Kristiina Aittomäki Elisa Alducci Irene L Andrulis Banu K Arun Margreet G E M Ausems Jacopo Azzollini Emmanuelle Barouk-Simonet Julian Barwell Muriel Belotti Javier Benitez Andreas Berger Ake Borg Angela R Bradbury Joan Brunet Saundra S Buys Trinidad Caldes Maria A Caligo Ian Campbell Sandrine M Caputo Jocelyne Chiquette Kathleen B M Claes J Margriet Collée Fergus J Couch Isabelle Coupier Mary B Daly Rosemarie Davidson Orland Diez Susan M Domchek Alan Donaldson Cecilia M Dorfling Ros Eeles Lidia Feliubadaló Lenka Foretova Jeffrey Fowler Eitan Friedman Debra Frost Patricia A Ganz Judy Garber Vanesa Garcia-Barberan Gord Glendon Andrew K Godwin Encarna B Gómez Garcia Jacek Gronwald Eric Hahnen Ute Hamann Alex Henderson Carolyn B Hendricks John L Hopper Peter J Hulick Evgeny N Imyanitov Claudine Isaacs Louise Izatt Ángel Izquierdo Anna Jakubowska Katarzyna Kaczmarek Eunyoung Kang Beth Y Karlan Carolien M Kets Sung-Won Kim Zisun Kim Ava Kwong Yael Laitman Christine Lasset Min Hyuk Lee Jong Won Lee Jihyoun Lee Jenny Lester Fabienne Lesueur Jennifer T Loud Jan Lubinski Noura Mebirouk Hanne E J Meijers-Heijboer Alfons Meindl Austin Miller Marco Montagna Thea M Mooij Patrick J Morrison Emmanuelle Mouret-Fourme Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Dieter Niederacher Finn C Nielsen Robert L Nussbaum Kenneth Offit Edith Olah Kai-Ren Ong Laura Ottini Sue K Park Paolo Peterlongo Georg Pfeiler Catherine M Phelan Bruce Poppe Nisha Pradhan Paolo Radice Susan J Ramus Johanna Rantala Mark Robson Gustavo C Rodriguez Rita K Schmutzler Christina G Hutten Selkirk Payal D Shah Jacques Simard Christian F Singer Johanna Sokolowska Dominique Stoppa-Lyonnet Christian Sutter Yen Yen Tan R Manuel Teixeira Soo H Teo Mary Beth Terry Mads Thomassen Marc Tischkowitz Amanda E Toland Katherine M Tucker Nadine Tung Christi J van Asperen Klaartje van Engelen Elizabeth J van Rensburg Shan Wang-Gohrke Barbara Wappenschmidt Jeffrey N Weitzel Drakoulis Yannoukakos Mark H Greene Matti A Rookus Douglas F Easton Georgia Chenevix-Trench Antonis C Antoniou David E Goldgar Olufunmilayo I Olopade Timothy R Rebbeck Dezheng Huo

J Natl Cancer Inst 2019 Apr;111(4):350-364

Department of Medicine, The University of Chicago, Chicago, IL.

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https://academic.oup.com/jnci/advance-article/doi/10.1093/jn
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http://dx.doi.org/10.1093/jnci/djy132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449171PMC
April 2019

Clinical implications of germline mutations in breast cancer genes: RECQL.

Breast Cancer Res Treat 2019 Apr 4;174(3):553-560. Epub 2019 Jan 4.

East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Trust, Cambridge, UK.

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http://link.springer.com/10.1007/s10549-018-05096-6
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http://dx.doi.org/10.1007/s10549-018-05096-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6439214PMC
April 2019

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer.

Authors:
Manuel A Ferreira Eric R Gamazon Fares Al-Ejeh Kristiina Aittomäki Irene L Andrulis Hoda Anton-Culver Adalgeir Arason Volker Arndt Kristan J Aronson Banu K Arun Ella Asseryanis Jacopo Azzollini Judith Balmaña Daniel R Barnes Daniel Barrowdale Matthias W Beckmann Sabine Behrens Javier Benitez Marina Bermisheva Katarzyna Białkowska Carl Blomqvist Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Ake Borg Hiltrud Brauch Hermann Brenner Annegien Broeks Barbara Burwinkel Trinidad Caldés Maria A Caligo Daniele Campa Ian Campbell Federico Canzian Jonathan Carter Brian D Carter Jose E Castelao Jenny Chang-Claude Stephen J Chanock Hans Christiansen Wendy K Chung Kathleen B M Claes Christine L Clarke Fergus J Couch Angela Cox Simon S Cross Kamila Czene Mary B Daly Miguel de la Hoya Joe Dennis Peter Devilee Orland Diez Thilo Dörk Alison M Dunning Miriam Dwek Diana M Eccles Bent Ejlertsen Carolina Ellberg Christoph Engel Mikael Eriksson Peter A Fasching Olivia Fletcher Henrik Flyger Eitan Friedman Debra Frost Marike Gabrielson Manuela Gago-Dominguez Patricia A Ganz Susan M Gapstur Judy Garber Montserrat García-Closas José A García-Sáenz Mia M Gaudet Graham G Giles Gord Glendon Andrew K Godwin Mark S Goldberg David E Goldgar Anna González-Neira Mark H Greene Jacek Gronwald Pascal Guénel Christopher A Haiman Per Hall Ute Hamann Wei He Jane Heyworth Frans B L Hogervorst Antoinette Hollestelle Robert N Hoover John L Hopper Peter J Hulick Keith Humphreys Evgeny N Imyanitov Claudine Isaacs Milena Jakimovska Anna Jakubowska Paul A James Ramunas Janavicius Rachel C Jankowitz Esther M John Nichola Johnson Vijai Joseph Beth Y Karlan Elza Khusnutdinova Johanna I Kiiski Yon-Dschun Ko Michael E Jones Irene Konstantopoulou Vessela N Kristensen Yael Laitman Diether Lambrechts Conxi Lazaro Goska Leslie Jenny Lester Fabienne Lesueur Sara Lindström Jirong Long Jennifer T Loud Jan Lubiński Enes Makalic Arto Mannermaa Mehdi Manoochehri Sara Margolin Tabea Maurer Dimitrios Mavroudis Lesley McGuffog Alfons Meindl Usha Menon Kyriaki Michailidou Austin Miller Marco Montagna Fernando Moreno Lidia Moserle Anna Marie Mulligan Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Ines Nevelsteen Finn C Nielsen Liene Nikitina-Zake Robert L Nussbaum Kenneth Offit Edith Olah Olufunmilayo I Olopade Håkan Olsson Ana Osorio Janos Papp Tjoung-Won Park-Simon Michael T Parsons Inge Sokilde Pedersen Ana Peixoto Paolo Peterlongo Paul D P Pharoah Dijana Plaseska-Karanfilska Bruce Poppe Nadege Presneau Paolo Radice Johanna Rantala Gad Rennert Harvey A Risch Emmanouil Saloustros Kristin Sanden Elinor J Sawyer Marjanka K Schmidt Rita K Schmutzler Priyanka Sharma Xiao-Ou Shu Jacques Simard Christian F Singer Penny Soucy Melissa C Southey John J Spinelli Amanda B Spurdle Jennifer Stone Anthony J Swerdlow William J Tapper Jack A Taylor Manuel R Teixeira Mary Beth Terry Alex Teulé Mads Thomassen Kathrin Thöne Darcy L Thull Marc Tischkowitz Amanda E Toland Diana Torres Thérèse Truong Nadine Tung Celine M Vachon Christi J van Asperen Ans M W van den Ouweland Elizabeth J van Rensburg Ana Vega Alessandra Viel Qin Wang Barbara Wappenschmidt Jeffrey N Weitzel Camilla Wendt Robert Winqvist Xiaohong R Yang Drakoulis Yannoukakos Argyrios Ziogas Peter Kraft Antonis C Antoniou Wei Zheng Douglas F Easton Roger L Milne Jonathan Beesley Georgia Chenevix-Trench

Nat Commun 2019 04 15;10(1):1741. Epub 2019 Apr 15.

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia.

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http://dx.doi.org/10.1038/s41467-018-08053-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465407PMC
April 2019

The clinical presentation caused by truncating CHD8 variants.

Clin Genet 2019 Apr 18. Epub 2019 Apr 18.

Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK.

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http://doi.wiley.com/10.1111/cge.13554
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http://dx.doi.org/10.1111/cge.13554DOI Listing
April 2019

Letter from the New Editor in Chief.

Authors:
Marc Tischkowitz

Genet Res (Camb) 2019 02 12;101:e2. Epub 2019 Feb 12.

Department of Medical Genetics,University of Cambridge.

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http://dx.doi.org/10.1017/S0016672319000028DOI Listing
February 2019

Shared heritability and functional enrichment across six solid cancers.

Authors:
Xia Jiang Hilary K Finucane Fredrick R Schumacher Stephanie L Schmit Jonathan P Tyrer Younghun Han Kyriaki Michailidou Corina Lesseur Karoline B Kuchenbaecker Joe Dennis David V Conti Graham Casey Mia M Gaudet Jeroen R Huyghe Demetrius Albanes Melinda C Aldrich Angeline S Andrew Irene L Andrulis Hoda Anton-Culver Antonis C Antoniou Natalia N Antonenkova Susanne M Arnold Kristan J Aronson Banu K Arun Elisa V Bandera Rosa B Barkardottir Daniel R Barnes Jyotsna Batra Matthias W Beckmann Javier Benitez Sara Benlloch Andrew Berchuck Sonja I Berndt Heike Bickeböller Stephanie A Bien Carl Blomqvist Stefania Boccia Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Hiltrud Brauch Hermann Brenner James D Brenton Mark N Brook Joan Brunet Hans Brunnström Daniel D Buchanan Barbara Burwinkel Ralf Butzow Gabriella Cadoni Trinidad Caldés Maria A Caligo Ian Campbell Peter T Campbell Géraldine Cancel-Tassin Lisa Cannon-Albright Daniele Campa Neil Caporaso André L Carvalho Andrew T Chan Jenny Chang-Claude Stephen J Chanock Chu Chen David C Christiani Kathleen B M Claes Frank Claessens Judith Clements J Margriet Collée Marcia Cruz Correa Fergus J Couch Angela Cox Julie M Cunningham Cezary Cybulski Kamila Czene Mary B Daly Anna deFazio Peter Devilee Orland Diez Manuela Gago-Dominguez Jenny L Donovan Thilo Dörk Eric J Duell Alison M Dunning Miriam Dwek Diana M Eccles Christopher K Edlund Digna R Velez Edwards Carolina Ellberg D Gareth Evans Peter A Fasching Robert L Ferris Triantafillos Liloglou Jane C Figueiredo Olivia Fletcher Renée T Fortner Florentia Fostira Silvia Franceschi Eitan Friedman Steven J Gallinger Patricia A Ganz Judy Garber José A García-Sáenz Simon A Gayther Graham G Giles Andrew K Godwin Mark S Goldberg David E Goldgar Ellen L Goode Marc T Goodman Gary Goodman Kjell Grankvist Mark H Greene Henrik Gronberg Jacek Gronwald Pascal Guénel Niclas Håkansson Per Hall Ute Hamann Freddie C Hamdy Robert J Hamilton Jochen Hampe Aage Haugen Florian Heitz Rolando Herrero Peter Hillemanns Michael Hoffmeister Estrid Høgdall Yun-Chul Hong John L Hopper Richard Houlston Peter J Hulick David J Hunter David G Huntsman Gregory Idos Evgeny N Imyanitov Sue Ann Ingles Claudine Isaacs Anna Jakubowska Paul James Mark A Jenkins Mattias Johansson Mikael Johansson Esther M John Amit D Joshi Radka Kaneva Beth Y Karlan Linda E Kelemen Tabea Kühl Kay-Tee Khaw Elza Khusnutdinova Adam S Kibel Lambertus A Kiemeney Jeri Kim Susanne K Kjaer Julia A Knight Manolis Kogevinas Zsofia Kote-Jarai Stella Koutros Vessela N Kristensen Jolanta Kupryjanczyk Martin Lacko Stephan Lam Diether Lambrechts Maria Teresa Landi Philip Lazarus Nhu D Le Eunjung Lee Flavio Lejbkowicz Heinz-Josef Lenz Goska Leslie Davor Lessel Jenny Lester Douglas A Levine Li Li Christopher I Li Annika Lindblom Noralane M Lindor Geoffrey Liu Fotios Loupakis Jan Lubiński Lovise Maehle Christiane Maier Arto Mannermaa Loic Le Marchand Sara Margolin Taymaa May Lesley McGuffog Alfons Meindl Pooja Middha Austin Miller Roger L Milne Robert J MacInnis Francesmary Modugno Marco Montagna Victor Moreno Kirsten B Moysich Lorelei Mucci Kenneth Muir Anna Marie Mulligan Katherine L Nathanson David E Neal Andrew R Ness Susan L Neuhausen Heli Nevanlinna Polly A Newcomb Lisa F Newcomb Finn Cilius Nielsen Liene Nikitina-Zake Børge G Nordestgaard Robert L Nussbaum Kenneth Offit Edith Olah Ali Amin Al Olama Olufunmilayo I Olopade Andrew F Olshan Håkan Olsson Ana Osorio Hardev Pandha Jong Y Park Nora Pashayan Michael T Parsons Tanja Pejovic Kathryn L Penney Wilbert H M Peters Catherine M Phelan Amanda I Phipps Dijana Plaseska-Karanfilska Miranda Pring Darya Prokofyeva Paolo Radice Kari Stefansson Susan J Ramus Leon Raskin Gad Rennert Hedy S Rennert Elizabeth J van Rensburg Marjorie J Riggan Harvey A Risch Angela Risch Monique J Roobol Barry S Rosenstein Mary Anne Rossing Kim De Ruyck Emmanouil Saloustros Dale P Sandler Elinor J Sawyer Matthew B Schabath Johanna Schleutker Marjanka K Schmidt V Wendy Setiawan Hongbing Shen Erin M Siegel Weiva Sieh Christian F Singer Martha L Slattery Karina Dalsgaard Sorensen Melissa C Southey Amanda B Spurdle Janet L Stanford Victoria L Stevens Sebastian Stintzing Jennifer Stone Karin Sundfeldt Rebecca Sutphen Anthony J Swerdlow Eloiza H Tajara Catherine M Tangen Adonina Tardon Jack A Taylor M Dawn Teare Manuel R Teixeira Mary Beth Terry Kathryn L Terry Stephen N Thibodeau Mads Thomassen Line Bjørge Marc Tischkowitz Amanda E Toland Diana Torres Paul A Townsend Ruth C Travis Nadine Tung Shelley S Tworoger Cornelia M Ulrich Nawaid Usmani Celine M Vachon Els Van Nieuwenhuysen Ana Vega Miguel Elías Aguado-Barrera Qin Wang Penelope M Webb Clarice R Weinberg Stephanie Weinstein Mark C Weissler Jeffrey N Weitzel Catharine M L West Emily White Alice S Whittemore H-Erich Wichmann Fredrik Wiklund Robert Winqvist Alicja Wolk Penella Woll Michael Woods Anna H Wu Xifeng Wu Drakoulis Yannoukakos Wei Zheng Shanbeh Zienolddiny Argyrios Ziogas Kristin K Zorn Jacqueline M Lane Richa Saxena Duncan Thomas Rayjean J Hung Brenda Diergaarde James McKay Ulrike Peters Li Hsu Montserrat García-Closas Rosalind A Eeles Georgia Chenevix-Trench Paul J Brennan Christopher A Haiman Jacques Simard Douglas F Easton Stephen B Gruber Paul D P Pharoah Alkes L Price Bogdan Pasaniuc Christopher I Amos Peter Kraft Sara Lindström

Nat Commun 2019 01 25;10(1):431. Epub 2019 Jan 25.

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, 1100 Fairview Ave. N., Seattle, WA, 98109-1024, USA.

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http://dx.doi.org/10.1038/s41467-018-08054-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6347624PMC
January 2019

A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk.

Authors:
Yingchang Lu Alicia Beeghly-Fadiel Lang Wu Xingyi Guo Bingshan Li Joellen M Schildkraut Hae Kyung Im Yian A Chen Jennifer B Permuth Brett M Reid Jamie K Teer Kirsten B Moysich Irene L Andrulis Hoda Anton-Culver Banu K Arun Elisa V Bandera Rosa B Barkardottir Daniel R Barnes Javier Benitez Line Bjorge James Brenton Ralf Butzow Trinidad Caldes Maria A Caligo Ian Campbell Jenny Chang-Claude Kathleen B M Claes Fergus J Couch Daniel W Cramer Mary B Daly Anna deFazio Joe Dennis Orland Diez Susan M Domchek Thilo Dörk Douglas F Easton Diana M Eccles Peter A Fasching Renée T Fortner George Fountzilas Eitan Friedman Patricia A Ganz Judy Garber Graham G Giles Andrew K Godwin David E Goldgar Marc T Goodman Mark H Greene Jacek Gronwald Ute Hamann Florian Heitz Michelle A T Hildebrandt Claus K Høgdall Antoinette Hollestelle Peter J Hulick David G Huntsman Evgeny N Imyanitov Claudine Isaacs Anna Jakubowska Paul James Beth Y Karlan Linda E Kelemen Lambertus A Kiemeney Susanne K Kjaer Ava Kwong Nhu D Le Goska Leslie Fabienne Lesueur Douglas A Levine Amalia Mattiello Taymaa May Lesley McGuffog Iain A McNeish Melissa A Merritt Francesmary Modugno Marco Montagna Susan L Neuhausen Heli Nevanlinna Finn C Nielsen Liene Nikitina-Zake Robert L Nussbaum Kenneth Offit Edith Olah Olufunmilayo I Olopade Sara H Olson Håkan Olsson Ana Osorio Sue K Park Michael T Parsons Petra H M Peeters Tanja Pejovic Paolo Peterlongo Catherine M Phelan Miquel Angel Pujana Susan J Ramus Gad Rennert Harvey Risch Gustavo C Rodriguez Cristina Rodríguez-Antona Isabelle Romieu Matti A Rookus Mary Anne Rossing Iwona K Rzepecka Dale P Sandler Rita K Schmutzler Veronica W Setiawan Priyanka Sharma Weiva Sieh Jacques Simard Christian F Singer Honglin Song Melissa C Southey Amanda B Spurdle Rebecca Sutphen Anthony J Swerdlow Manuel R Teixeira Soo H Teo Mads Thomassen Marc Tischkowitz Amanda E Toland Antonia Trichopoulou Nadine Tung Shelley S Tworoger Elizabeth J van Rensburg Adriaan Vanderstichele Ana Vega Digna Velez Edwards Penelope M Webb Jeffrey N Weitzel Nicolas Wentzensen Emily White Alicja Wolk Anna H Wu Drakoulis Yannoukakos Kristin K Zorn Simon A Gayther Antonis C Antoniou Andrew Berchuck Ellen L Goode Georgia Chenevix-Trench Thomas A Sellers Paul D P Pharoah Wei Zheng Jirong Long

Cancer Res 2018 Sep 27;78(18):5419-5430. Epub 2018 Jul 27.

Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee.

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http://dx.doi.org/10.1158/0008-5472.CAN-18-0951DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6139053PMC
September 2018

Penetrance estimates for , (also applied to Lynch syndrome) based on presymptomatic testing: a new unbiased method to assess risk?

J Med Genet 2018 Jul 26;55(7):442-448. Epub 2018 Feb 26.

Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1136/jmedgenet-2017-105223DOI Listing
July 2018

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Authors:
Timothy R Rebbeck Tara M Friebel Eitan Friedman Ute Hamann Dezheng Huo Ava Kwong Edith Olah Olufunmilayo I Olopade Angela R Solano Soo-Hwang Teo Mads Thomassen Jeffrey N Weitzel T L Chan Fergus J Couch David E Goldgar Torben A Kruse Edenir Inêz Palmero Sue Kyung Park Diana Torres Elizabeth J van Rensburg Lesley McGuffog Michael T Parsons Goska Leslie Cora M Aalfs Julio Abugattas Julian Adlard Simona Agata Kristiina Aittomäki Lesley Andrews Irene L Andrulis Adalgeir Arason Norbert Arnold Banu K Arun Ella Asseryanis Leo Auerbach Jacopo Azzollini Judith Balmaña Monica Barile Rosa B Barkardottir Daniel Barrowdale Javier Benitez Andreas Berger Raanan Berger Amie M Blanco Kathleen R Blazer Marinus J Blok Valérie Bonadona Bernardo Bonanni Angela R Bradbury Carole Brewer Bruno Buecher Saundra S Buys Trinidad Caldes Almuth Caliebe Maria A Caligo Ian Campbell Sandrine M Caputo Jocelyne Chiquette Wendy K Chung Kathleen B M Claes J Margriet Collée Jackie Cook Rosemarie Davidson Miguel de la Hoya Kim De Leeneer Antoine de Pauw Capucine Delnatte Orland Diez Yuan Chun Ding Nina Ditsch Susan M Domchek Cecilia M Dorfling Carolina Velazquez Bernd Dworniczak Jacqueline Eason Douglas F Easton Ros Eeles Hans Ehrencrona Bent Ejlertsen Christoph Engel Stefanie Engert D Gareth Evans Laurence Faivre Lidia Feliubadaló Sandra Fert Ferrer Lenka Foretova Jeffrey Fowler Debra Frost Henrique C R Galvão Patricia A Ganz Judy Garber Marion Gauthier-Villars Andrea Gehrig Anne-Marie Gerdes Paul Gesta Giuseppe Giannini Sophie Giraud Gord Glendon Andrew K Godwin Mark H Greene Jacek Gronwald Angelica Gutierrez-Barrera Eric Hahnen Jan Hauke Alex Henderson Julia Hentschel Frans B L Hogervorst Ellen Honisch Evgeny N Imyanitov Claudine Isaacs Louise Izatt Angel Izquierdo Anna Jakubowska Paul James Ramunas Janavicius Uffe Birk Jensen Esther M John Joseph Vijai Katarzyna Kaczmarek Beth Y Karlan Karin Kast KConFab Investigators Sung-Won Kim Irene Konstantopoulou Jacob Korach Yael Laitman Adriana Lasa Christine Lasset Conxi Lázaro Annette Lee Min Hyuk Lee Jenny Lester Fabienne Lesueur Annelie Liljegren Noralane M Lindor Michel Longy Jennifer T Loud Karen H Lu Jan Lubinski Eva Machackova Siranoush Manoukian Véronique Mari Cristina Martínez-Bouzas Zoltan Matrai Noura Mebirouk Hanne E J Meijers-Heijboer Alfons Meindl Arjen R Mensenkamp Ugnius Mickys Austin Miller Marco Montagna Kirsten B Moysich Anna Marie Mulligan Jacob Musinsky Susan L Neuhausen Heli Nevanlinna Joanne Ngeow Huu Phuc Nguyen Dieter Niederacher Henriette Roed Nielsen Finn Cilius Nielsen Robert L Nussbaum Kenneth Offit Anna Öfverholm Kai-Ren Ong Ana Osorio Laura Papi Janos Papp Barbara Pasini Inge Sokilde Pedersen Ana Peixoto Nina Peruga Paolo Peterlongo Esther Pohl Nisha Pradhan Karolina Prajzendanc Fabienne Prieur Pascal Pujol Paolo Radice Susan J Ramus Johanna Rantala Muhammad Usman Rashid Kerstin Rhiem Mark Robson Gustavo C Rodriguez Mark T Rogers Vilius Rudaitis Ane Y Schmidt Rita Katharina Schmutzler Leigha Senter Payal D Shah Priyanka Sharma Lucy E Side Jacques Simard Christian F Singer Anne-Bine Skytte Thomas P Slavin Katie Snape Hagay Sobol Melissa Southey Linda Steele Doris Steinemann Grzegorz Sukiennicki Christian Sutter Csilla I Szabo Yen Y Tan Manuel R Teixeira Mary Beth Terry Alex Teulé Abigail Thomas Darcy L Thull Marc Tischkowitz Silvia Tognazzo Amanda Ewart Toland Sabine Topka Alison H Trainer Nadine Tung Christi J van Asperen Annemieke H van der Hout Lizet E van der Kolk Rob B van der Luijt Mattias Van Heetvelde Liliana Varesco Raymonda Varon-Mateeva Ana Vega Cynthia Villarreal-Garza Anna von Wachenfeldt Lisa Walker Shan Wang-Gohrke Barbara Wappenschmidt Bernhard H F Weber Drakoulis Yannoukakos Sook-Yee Yoon Cristina Zanzottera Jamal Zidan Kristin K Zorn Christina G Hutten Selkirk Peter J Hulick Georgia Chenevix-Trench Amanda B Spurdle Antonis C Antoniou Katherine L Nathanson

Hum Mutat 2018 05 12;39(5):593-620. Epub 2018 Mar 12.

Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA.

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http://dx.doi.org/10.1002/humu.23406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5903938PMC
May 2018

Breast Cancer Family History and Contralateral Breast Cancer Risk in Young Women: An Update From the Women's Environmental Cancer and Radiation Epidemiology Study.

J Clin Oncol 2018 May 5;36(15):1513-1520. Epub 2018 Apr 5.

Anne S. Reiner, Julia Sisti, Marinela Capanu, Mark Robson, Xiaolin Liang, Meghan Woods, and Jonine L. Bernstein, Memorial Sloan Kettering Cancer Center; Mark Robson, Cornell University; Roy Shore, New York University School of Medicine, New York, NY; Esther M. John, Cancer Prevention Institute of California, Fremont, and Stanford School of Medicine, Stanford; David V. Conti, Daniel O. Stram, and Duncan C. Thomas, University of Southern California, Los Angeles; Leslie Bernstein, City of Hope National Medical Center, Duarte, CA; Charles F. Lynch, University of Iowa, Iowa City, IA; Jennifer D. Brooks and Julia A. Knight, University of Toronto; Julia A. Knight, Sinai Health System, Toronto, Ontario, Canada; Lene Mellemkjær, Danish Cancer Society Research Center, Copenhagen, Denmark; John D. Boice, Vanderbilt University Medical Center and the Vanderbilt-Ingram Cancer Center, Nashville, TN; Patrick Concannon, University of Florida, Gainesville, FL; Marc Tischkowitz, University of Cambridge, Cambridge, United Kingdom; David Duggan, Translational Genomics Research Institute, Phoenix, AZ; and Kathleen E. Malone, Fred Hutchinson Cancer Research Center, Seattle, WA.

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http://dx.doi.org/10.1200/JCO.2017.77.3424DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959199PMC
May 2018

pedigreejs: a web-based graphical pedigree editor.

Bioinformatics 2018 03;34(6):1069-1071

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Strangeways Research Laboratory.

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https://academic.oup.com/bioinformatics/article/34/6/1069/45
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http://dx.doi.org/10.1093/bioinformatics/btx705DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5860312PMC
March 2018

Clinical implications of germline mutations in breast cancer: TP53.

Breast Cancer Res Treat 2018 01 16;167(2):417-423. Epub 2017 Oct 16.

East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Trust, Cambridge, UK.

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http://dx.doi.org/10.1007/s10549-017-4531-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5790840PMC
January 2018

Universal BRCA1/BRCA2 Testing for Ovarian Cancer Patients is Welcomed, but with Care: How Women and Staff Contextualize Experiences of Expanded Access.

J Genet Couns 2017 Dec 24;26(6):1280-1291. Epub 2017 May 24.

Chester Research Unit for the Psychology of Health (CRUPH), Department of Psychology, University of Chester, Chester, UK.

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http://dx.doi.org/10.1007/s10897-017-0108-5DOI Listing
December 2017

When to Consider Risk-Reducing Mastectomy in BRCA1/BRCA2 Mutation Carriers with Advanced Stage Ovarian Cancer: a Case Study Illustrating the Genetic Counseling Challenges.

J Genet Couns 2017 Dec 5;26(6):1173-1178. Epub 2017 Aug 5.

East Anglian Medical Genetics Service, Cambridge Biomedical Campus, Box 134, Level 6, Addenbrooke's Treatment Centre, Addenbrooke's Hospital, Cambridge, CB2 0QQ, UK.

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http://dx.doi.org/10.1007/s10897-017-0136-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5672852PMC
December 2017

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.

Authors:
Roger L Milne Karoline B Kuchenbaecker Kyriaki Michailidou Jonathan Beesley Siddhartha Kar Sara Lindström Shirley Hui Audrey Lemaçon Penny Soucy Joe Dennis Xia Jiang Asha Rostamianfar Hilary Finucane Manjeet K Bolla Lesley McGuffog Qin Wang Cora M Aalfs Marcia Adams Julian Adlard Simona Agata Shahana Ahmed Habibul Ahsan Kristiina Aittomäki Fares Al-Ejeh Jamie Allen Christine B Ambrosone Christopher I Amos Irene L Andrulis Hoda Anton-Culver Natalia N Antonenkova Volker Arndt Norbert Arnold Kristan J Aronson Bernd Auber Paul L Auer Margreet G E M Ausems Jacopo Azzollini François Bacot Judith Balmaña Monica Barile Laure Barjhoux Rosa B Barkardottir Myrto Barrdahl Daniel Barnes Daniel Barrowdale Caroline Baynes Matthias W Beckmann Javier Benitez Marina Bermisheva Leslie Bernstein Yves-Jean Bignon Kathleen R Blazer Marinus J Blok Carl Blomqvist William Blot Kristie Bobolis Bram Boeckx Natalia V Bogdanova Anders Bojesen Stig E Bojesen Bernardo Bonanni Anne-Lise Børresen-Dale Aniko Bozsik Angela R Bradbury Judith S Brand Hiltrud Brauch Hermann Brenner Brigitte Bressac-de Paillerets Carole Brewer Louise Brinton Per Broberg Angela Brooks-Wilson Joan Brunet Thomas Brüning Barbara Burwinkel Saundra S Buys Jinyoung Byun Qiuyin Cai Trinidad Caldés Maria A Caligo Ian Campbell Federico Canzian Olivier Caron Angel Carracedo Brian D Carter J Esteban Castelao Laurent Castera Virginie Caux-Moncoutier Salina B Chan Jenny Chang-Claude Stephen J Chanock Xiaoqing Chen Ting-Yuan David Cheng Jocelyne Chiquette Hans Christiansen Kathleen B M Claes Christine L Clarke Thomas Conner Don M Conroy Jackie Cook Emilie Cordina-Duverger Sten Cornelissen Isabelle Coupier Angela Cox David G Cox Simon S Cross Katarina Cuk Julie M Cunningham Kamila Czene Mary B Daly Francesca Damiola Hatef Darabi Rosemarie Davidson Kim De Leeneer Peter Devilee Ed Dicks Orland Diez Yuan Chun Ding Nina Ditsch Kimberly F Doheny Susan M Domchek Cecilia M Dorfling Thilo Dörk Isabel Dos-Santos-Silva Stéphane Dubois Pierre-Antoine Dugué Martine Dumont Alison M Dunning Lorraine Durcan Miriam Dwek Bernd Dworniczak Diana Eccles Ros Eeles Hans Ehrencrona Ursula Eilber Bent Ejlertsen Arif B Ekici A Heather Eliassen Christoph Engel Mikael Eriksson Laura Fachal Laurence Faivre Peter A Fasching Ulrike Faust Jonine Figueroa Dieter Flesch-Janys Olivia Fletcher Henrik Flyger William D Foulkes Eitan Friedman Lin Fritschi Debra Frost Marike Gabrielson Pragna Gaddam Marilie D Gammon Patricia A Ganz Susan M Gapstur Judy Garber Vanesa Garcia-Barberan José A García-Sáenz Mia M Gaudet Marion Gauthier-Villars Andrea Gehrig Vassilios Georgoulias Anne-Marie Gerdes Graham G Giles Gord Glendon Andrew K Godwin Mark S Goldberg David E Goldgar Anna González-Neira Paul Goodfellow Mark H Greene Grethe I Grenaker Alnæs Mervi Grip Jacek Gronwald Anne Grundy Daphne Gschwantler-Kaulich Pascal Guénel Qi Guo Lothar Haeberle Eric Hahnen Christopher A Haiman Niclas Håkansson Emily Hallberg Ute Hamann Nathalie Hamel Susan Hankinson Thomas V O Hansen Patricia Harrington Steven N Hart Jaana M Hartikainen Catherine S Healey Alexander Hein Sonja Helbig Alex Henderson Jane Heyworth Belynda Hicks Peter Hillemanns Shirley Hodgson Frans B Hogervorst Antoinette Hollestelle Maartje J Hooning Bob Hoover John L Hopper Chunling Hu Guanmengqian Huang Peter J Hulick Keith Humphreys David J Hunter Evgeny N Imyanitov Claudine Isaacs Motoki Iwasaki Louise Izatt Anna Jakubowska Paul James Ramunas Janavicius Wolfgang Janni Uffe Birk Jensen Esther M John Nichola Johnson Kristine Jones Michael Jones Arja Jukkola-Vuorinen Rudolf Kaaks Maria Kabisch Katarzyna Kaczmarek Daehee Kang Karin Kast Renske Keeman Michael J Kerin Carolien M Kets Machteld Keupers Sofia Khan Elza Khusnutdinova Johanna I Kiiski Sung-Won Kim Julia A Knight Irene Konstantopoulou Veli-Matti Kosma Vessela N Kristensen Torben A Kruse Ava Kwong Anne-Vibeke Lænkholm Yael Laitman Fiona Lalloo Diether Lambrechts Keren Landsman Christine Lasset Conxi Lazaro Loic Le Marchand Julie Lecarpentier Andrew Lee Eunjung Lee Jong Won Lee Min Hyuk Lee Flavio Lejbkowicz Fabienne Lesueur Jingmei Li Jenna Lilyquist Anne Lincoln Annika Lindblom Jolanta Lissowska Wing-Yee Lo Sibylle Loibl Jirong Long Jennifer T Loud Jan Lubinski Craig Luccarini Michael Lush Robert J MacInnis Tom Maishman Enes Makalic Ivana Maleva Kostovska Kathleen E Malone Siranoush Manoukian JoAnn E Manson Sara Margolin John W M Martens Maria Elena Martinez Keitaro Matsuo Dimitrios Mavroudis Sylvie Mazoyer Catriona McLean Hanne Meijers-Heijboer Primitiva Menéndez Jeffery Meyer Hui Miao Austin Miller Nicola Miller Gillian Mitchell Marco Montagna Kenneth Muir Anna Marie Mulligan Claire Mulot Sue Nadesan Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Ines Nevelsteen Dieter Niederacher Sune F Nielsen Børge G Nordestgaard Aaron Norman Robert L Nussbaum Edith Olah Olufunmilayo I Olopade Janet E Olson Curtis Olswold Kai-Ren Ong Jan C Oosterwijk Nick Orr Ana Osorio V Shane Pankratz Laura Papi Tjoung-Won Park-Simon Ylva Paulsson-Karlsson Rachel Lloyd Inge Søkilde Pedersen Bernard Peissel Ana Peixoto Jose I A Perez Paolo Peterlongo Julian Peto Georg Pfeiler Catherine M Phelan Mila Pinchev Dijana Plaseska-Karanfilska Bruce Poppe Mary E Porteous Ross Prentice Nadege Presneau Darya Prokofieva Elizabeth Pugh Miquel Angel Pujana Katri Pylkäs Brigitte Rack Paolo Radice Nazneen Rahman Johanna Rantala Christine Rappaport-Fuerhauser Gad Rennert Hedy S Rennert Valerie Rhenius Kerstin Rhiem Andrea Richardson Gustavo C Rodriguez Atocha Romero Jane Romm Matti A Rookus Anja Rudolph Thomas Ruediger Emmanouil Saloustros Joyce Sanders Dale P Sandler Suleeporn Sangrajrang Elinor J Sawyer Daniel F Schmidt Minouk J Schoemaker Fredrick Schumacher Peter Schürmann Lukas Schwentner Christopher Scott Rodney J Scott Sheila Seal Leigha Senter Caroline Seynaeve Mitul Shah Priyanka Sharma Chen-Yang Shen Xin Sheng Hermela Shimelis Martha J Shrubsole Xiao-Ou Shu Lucy E Side Christian F Singer Christof Sohn Melissa C Southey John J Spinelli Amanda B Spurdle Christa Stegmaier Dominique Stoppa-Lyonnet Grzegorz Sukiennicki Harald Surowy Christian Sutter Anthony Swerdlow Csilla I Szabo Rulla M Tamimi Yen Y Tan Jack A Taylor Maria-Isabel Tejada Maria Tengström Soo H Teo Mary B Terry Daniel C Tessier Alex Teulé Kathrin Thöne Darcy L Thull Maria Grazia Tibiletti Laima Tihomirova Marc Tischkowitz Amanda E Toland Rob A E M Tollenaar Ian Tomlinson Ling Tong Diana Torres Martine Tranchant Thérèse Truong Kathy Tucker Nadine Tung Jonathan Tyrer Hans-Ulrich Ulmer Celine Vachon Christi J van Asperen David Van Den Berg Ans M W van den Ouweland Elizabeth J van Rensburg Liliana Varesco Raymonda Varon-Mateeva Ana Vega Alessandra Viel Joseph Vijai Daniel Vincent Jason Vollenweider Lisa Walker Zhaoming Wang Shan Wang-Gohrke Barbara Wappenschmidt Clarice R Weinberg Jeffrey N Weitzel Camilla Wendt Jelle Wesseling Alice S Whittemore Juul T Wijnen Walter Willett Robert Winqvist Alicja Wolk Anna H Wu Lucy Xia Xiaohong R Yang Drakoulis Yannoukakos Daniela Zaffaroni Wei Zheng Bin Zhu Argyrios Ziogas Elad Ziv Kristin K Zorn Manuela Gago-Dominguez Arto Mannermaa Håkan Olsson Manuel R Teixeira Jennifer Stone Kenneth Offit Laura Ottini Sue K Park Mads Thomassen Per Hall Alfons Meindl Rita K Schmutzler Arnaud Droit Gary D Bader Paul D P Pharoah Fergus J Couch Douglas F Easton Peter Kraft Georgia Chenevix-Trench Montserrat García-Closas Marjanka K Schmidt Antonis C Antoniou Jacques Simard

Nat Genet 2017 Dec 23;49(12):1767-1778. Epub 2017 Oct 23.

Genomics Center, Centre Hospitalier Universitaire de Québec Research Center, Laval University, Québec City, Québec, Canada.

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http://dx.doi.org/10.1038/ng.3785DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5808456PMC
December 2017

The use of panel testing in familial breast and ovarian cancer.

Clin Med (Lond) 2017 Dec;17(6):568-572

East Anglian Medical Genetics Service, Cambridge, UK.

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http://dx.doi.org/10.7861/clinmedicine.17-6-568DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6297688PMC
December 2017

Pathology update to the Manchester Scoring System based on testing in over 4000 families.

J Med Genet 2017 10 10;54(10):674-681. Epub 2017 May 10.

Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1136/jmedgenet-2017-104584DOI Listing
October 2017

Jejunal atresia, periodic fevers and psoriatic arthropathy in Baraitser-Winter malformation syndrome.

Clin Dysmorphol 2017 Oct;26(4):235-237

aDepartment of Medical Genetics, McGill University, Montreal, Quebec, Canada bWellcome Trust Sanger Institute cDepartment of Medical Genetics, University of Cambridge, Cambridge, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000197DOI Listing
October 2017

Genetics of gynaecological cancers.

Best Pract Res Clin Obstet Gynaecol 2017 Jul 24;42:114-124. Epub 2017 Jan 24.

Department of Clinical Genetics, East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK; Department of Medical Genetics, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.

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http://dx.doi.org/10.1016/j.bpobgyn.2017.01.004DOI Listing
July 2017

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores.

Authors:
Julie Lecarpentier Valentina Silvestri Karoline B Kuchenbaecker Daniel Barrowdale Joe Dennis Lesley McGuffog Penny Soucy Goska Leslie Piera Rizzolo Anna Sara Navazio Virginia Valentini Veronica Zelli Andrew Lee Ali Amin Al Olama Jonathan P Tyrer Melissa Southey Esther M John Thomas A Conner David E Goldgar Saundra S Buys Ramunas Janavicius Linda Steele Yuan Chun Ding Susan L Neuhausen Thomas V O Hansen Ana Osorio Jeffrey N Weitzel Angela Toss Veronica Medici Laura Cortesi Ines Zanna Domenico Palli Paolo Radice Siranoush Manoukian Bernard Peissel Jacopo Azzollini Alessandra Viel Giulia Cini Giuseppe Damante Stefania Tommasi Paolo Peterlongo Florentia Fostira Ute Hamann D Gareth Evans Alex Henderson Carole Brewer Diana Eccles Jackie Cook Kai-Ren Ong Lisa Walker Lucy E Side Mary E Porteous Rosemarie Davidson Shirley Hodgson Debra Frost Julian Adlard Louise Izatt Ros Eeles Steve Ellis Marc Tischkowitz Andrew K Godwin Alfons Meindl Andrea Gehrig Bernd Dworniczak Christian Sutter Christoph Engel Dieter Niederacher Doris Steinemann Eric Hahnen Jan Hauke Kerstin Rhiem Karin Kast Norbert Arnold Nina Ditsch Shan Wang-Gohrke Barbara Wappenschmidt Dorothea Wand Christine Lasset Dominique Stoppa-Lyonnet Muriel Belotti Francesca Damiola Laure Barjhoux Sylvie Mazoyer Mattias Van Heetvelde Bruce Poppe Kim De Leeneer Kathleen B M Claes Miguel de la Hoya Vanesa Garcia-Barberan Trinidad Caldes Pedro Perez Segura Johanna I Kiiski Kristiina Aittomäki Sofia Khan Heli Nevanlinna Christi J van Asperen Tibor Vaszko Miklos Kasler Edith Olah Judith Balmaña Sara Gutiérrez-Enríquez Orland Diez Alex Teulé Angel Izquierdo Esther Darder Joan Brunet Jesús Del Valle Lidia Feliubadalo Miquel Angel Pujana Conxi Lazaro Adalgeir Arason Bjarni A Agnarsson Oskar Th Johannsson Rosa B Barkardottir Elisa Alducci Silvia Tognazzo Marco Montagna Manuel R Teixeira Pedro Pinto Amanda B Spurdle Helene Holland Jong Won Lee Min Hyuk Lee Jihyoun Lee Sung-Won Kim Eunyoung Kang Zisun Kim Priyanka Sharma Timothy R Rebbeck Joseph Vijai Mark Robson Anne Lincoln Jacob Musinsky Pragna Gaddam Yen Y Tan Andreas Berger Christian F Singer Jennifer T Loud Mark H Greene Anna Marie Mulligan Gord Glendon Irene L Andrulis Amanda Ewart Toland Leigha Senter Anders Bojesen Henriette Roed Nielsen Anne-Bine Skytte Lone Sunde Uffe Birk Jensen Inge Sokilde Pedersen Lotte Krogh Torben A Kruse Maria A Caligo Sook-Yee Yoon Soo-Hwang Teo Anna von Wachenfeldt Dezheng Huo Sarah M Nielsen Olufunmilayo I Olopade Katherine L Nathanson Susan M Domchek Christa Lorenchick Rachel C Jankowitz Ian Campbell Paul James Gillian Mitchell Nick Orr Sue Kyung Park Mads Thomassen Kenneth Offit Fergus J Couch Jacques Simard Douglas F Easton Georgia Chenevix-Trench Rita K Schmutzler Antonis C Antoniou Laura Ottini

J Clin Oncol 2017 Jul 27;35(20):2240-2250. Epub 2017 Apr 27.

Julie Lecarpentier, Karoline B. Kuchenbaecker, Daniel Barrowdale, Joe Dennis, Lesley McGuffog, Goska Leslie, Andrew Lee, Ali Amin Al Olama, Jonathan P. Tyrer, Debra Frost, Steve Ellis, Douglas F. Easton, and Antonis C. Antoniou, University of Cambridge; Karoline B. Kuchenbaecker, The Wellcome Trust Sanger Institute, Hinxton; Marc Tischkowitz, Addenbrooke's Treatment Centre, Addenbrooke's Hospital, Cambridge; D. Gareth Evans, Manchester University, Central Manchester University Hospitals NHS Foundation Trust, Manchester; Alex Henderson, Newcastle Upon Tyne Hospitals NHS Trust, Newcastle upon Tyne; Carole Brewer, Royal Devon and Exeter Hospital, Exeter; Diana Eccles, Southampton University Hospitals NHS Trust, Southampton; Jackie Cook, Sheffield Children's Hospital, Sheffield; Kai-ren Ong, Birmingham Women's Hospital Healthcare NHS Trust, Edgbaston, Birmingham; Lisa Walker, Churchill Hospital, Oxford; Lucy E. Side, Great Ormond Street Hospital for Children NHS Trust; Shirley Hodgson, St George's, University of London; Louise Izatt, Guy's and St Thomas' NHS Foundation Trust; Ros Eeles, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust; Nick Orr, The Institute of Cancer Research, London; Mary E. Porteous, Western General Hospital, Edinburgh; Rosemarie Davidson, South Glasgow University Hospitals, Glasgow; Julian Adlard, Chapel Allerton Hospital, Leeds, United Kingdom; Valentina Silvestri, Piera Rizzolo, Anna Sara Navazio, Virginia Valentini, Veronica Zelli, and Laura Ottini, Sapienza University of Rome, Rome; Angela Toss, Veronica Medici, and Laura Cortesi, University of Modena and Reggio Emilia, Modena; Ines Zanna and Domenico Palli, Cancer Research and Prevention Institute, Florence; Paolo Radice, Siranoush Manoukian, Bernard Peissel, and Jacopo Azzollini, Fondazione Istituto Di Ricovero e Cura a Carattere Scientifico (IRCCS) Istituto Nazionale Tumori (INT); Paolo Peterlongo, Italian Foundation for Cancer Research Institute of Molecular Oncology (IFOM), Milan; Alessandra Viel and Giulia Cini, CRO Aviano, National Cancer Institute, Aviano; Giuseppe Damante, University of Udine, Udine; Stefania Tommasi, Istituto Nazionale Tumori "Giovanni Paolo II", Bari; Elisa Alducci, Silvia Tognazzo, and Marco Montagna, Veneto Institute of Oncology IOV - IRCCS, Padua; Maria A. Caligo, University and University Hospital of Pisa, Pisa, Italy; Penny Soucy and Jacques Simard, Centre Hospitalier Universitaire de Québec Research Center and Laval University, Quebec City, Quebec; Anna Marie Mulligan and Irene L. Andrulis, University of Toronto; Gord Glendon and Irene L. Andrulis, Mount Sinai Hospital, Toronto, Ontario, Canada; Melissa Southey, Ian Campbell, Paul James, and Gillian Mitchell, University of Melbourne, Parkville, Victoria; Amanda B. Spurdle, Helene Holland, and Georgia Chenevix-Trench, QIMR Berghofer Medical Research Institute, Brisbane, Queensland; Ian Campbell, Paul James, and Gillian Mitchell, Peter MacCallum Cancer Centre, East Melbourne, New South Wales, Australia; Esther M. John, Cancer Prevention Institute of California, Fremont; Linda Steele, Yuan Chun Ding, Susan L. Neuhausen, and Jeffrey N. Weitzel, City of Hope, Duarte, CA; Thomas A. Conner and Saundra S. Buys, Huntsman Cancer Institute; David E. Goldgar, University of Utah School of Medicine, Salt Lake City, UT; Andrew K. Godwin, University of Kansas Medical Center, Kansas City; Priyanka Sharma, University of Kansas Medical Center, Westwood, KS; Timothy R. Rebbeck, Harvard TH Chan School of Public Health and Dana Farber Cancer Institute, Boston, MA; Joseph Vijai, Mark Robson, Anne Lincoln, Jacob Musinsky, Pragna Gaddam, and Kenneth Offit, Memorial Sloan Kettering Cancer Center, New York, NY; Jennifer T. Loud and Mark H. Greene, National Cancer Institute, Bethesda, MD; Amanda Ewart Toland and Leigha Senter, The Ohio State University, Columbus, OH; Dezheng Huo, Sarah M. Nielsen, and Olufunmilayo I. Olopade, University of Chicago Medical Center, Chicago, IL; Katherine L. Nathanson and Susan M. Domchek, University of Pennsylvania, Philadelphia; Christa Lorenchick and Rachel C. Jankowitz, University of Pittsburgh Medical Center, Pittsburgh, PA; Fergus J. Couch, Mayo Clinic, Rochester, MN; Ramunas Janavicius, State Research Institute Innovative Medicine Center, Vilnius, Lithuania; Thomas V.O. Hansen, Rigshospitalet, Copenhagen University Hospital, Copenhagen; Anders Bojesen and Henriette Roed Nielsen, Vejle Hospital, Vejle; Anne-Bine Skytte, Lone Sunde, and Uffe Birk Jensen, Aarhus University Hospital, Aarhus; Inge Sokilde Pedersen, Aalborg University Hospital, Aalborg; Lotte Krogh, Torben A. Kruse, and Mads Thomassen, Odense University Hospital, Odense, Denmark; Ana Osorio, National Cancer Research Centre and Spanish Network on Rare Diseases; Miguel de la Hoya, Vanesa Garcia-Barberan, Trinidad Caldes, and Pedro Perez Segura, Hospital Clinico San Carlos, El Instituto de Investigación Sanitaria del Hospital Clínico San Carlos, Madrid; Judith Balmaña, University Hospital, Vall d'Hebron; Sara Gutiérrez-Enríquez and Orland Diez, Vall d'Hebron Institute of Oncology; Orland Diez, University Hospital Vall d'Hebron; Alex Teulé, Jesús Del Valle, Lidia Feliubadalo, Miquel Angel Pujana, and Conxi Lazaro, Bellvitge Biomedical Research Institute, Catalan Institute of Oncology, Barcelona; Angel Izquierdo, Esther Darder, and Joan Brunet, Institut d'Investigació Biomèdica de Girona, Catalan Institute of Oncology, Girona, Spain; Florentia Fostira, National Centre for Scientific Research "Demokritos," Athens, Greece; Ute Hamann, German Cancer Research Center (DKFZ); Christian Sutter, University Hospital Heidelberg, Heidelberg; Alfons Meindl, Klinikumrechts der Isar, Technical University Munich; Nina Ditsch, Ludwig-Maximilian University, Munich; Andrea Gehrig, University Würzburg, Würzburg; Bernd Dworniczak, University of Münster, Münster; Christoph Engel, University of Leipzig; Dorothea Wand, University Hospital, Leipzig; Dieter Niederacher, University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf; Doris Steinemann, Hannover Medical School, Hannover; Eric Hahnen, Jan Hauke, Kerstin Rhiem, Barbara Wappenschmidt, and Rita K. Schmutzler, University Hospital Cologne, Cologne; Karin Kast, University Hospital Carl Gustav Carus, Technical University Dresden, Dresden; Norbert Arnold, University Hospital of Schleswig-Holstein, Christian-Albrechts University Kiel, Kiel; Shan Wang-Gohrke, University Hospital Ulm, Ulm, Germany; Christine Lasset, Francesca Damiola, and Laure Barjhoux, Centre Léon Bérard; Sylvie Mazoyer, University of Lyon, Lyon; Dominique Stoppa-Lyonnet and Muriel Belotti, Institut Curie, Paris, France; Mattias Van Heetvelde, Bruce Poppe, Kim De Leeneer, and Kathleen B.M. Claes, Ghent University, Gent, Belgium; Johanna I. Kiiski, Sofia Khan, and Heli Nevanlinna, University of Helsinki; Johanna I. Kiiski, Kristiina Aittomäki, Sofia Khan, and Heli Nevanlinna, Helsinki University Hospital, Helsinki, Finland; Christi J. van Asperen, Leiden University Medical Center, Leiden, the Netherlands; Tibor Vaszko, Miklos Kasler, and Edith Olah, National Institute of Oncology, Budapest, Hungary; Adalgeir Arason, Bjarni A. Agnarsson, Oskar Th. Johannsson, and Rosa B. Barkardottir, Landspitali University Hospital and Biomedical Centre, University of Iceland, Reykjavik, Iceland; Manuel R. Teixeira and Pedro Pinto, Portuguese Oncology Institute; Manuel R. Teixeira, Porto University, Porto, Portugal; Jong Won Lee, Ulsan College of Medicine and Asan Medical Center; Min Hyuk Lee and Jihyoun Lee, Soonchunhyang University and Hospital; Sung-Won Kim and Eunyoung Kang, Daerim St Mary's Hospital; Sue Kyung Park, Seoul National University College of Medicine, Seoul; Zisun Kim, Soonchunhyang University Bucheon Hospital, Bucheon, Korea; Yen Y. Tan, Andreas Berger, and Christian F. Singer, Medical University of Vienna, Vienna, Austria; Sook-Yee Yoon and Soo-Hwang Teo, Sime Darby Medical Centre, Subang Jaya, Malaysia; and Anna von Wachenfeldt, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1200/JCO.2016.69.4935DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501359PMC
July 2017

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.

Authors:
Catherine M Phelan Karoline B Kuchenbaecker Jonathan P Tyrer Siddhartha P Kar Kate Lawrenson Stacey J Winham Joe Dennis Ailith Pirie Marjorie J Riggan Ganna Chornokur Madalene A Earp Paulo C Lyra Janet M Lee Simon Coetzee Jonathan Beesley Lesley McGuffog Penny Soucy Ed Dicks Andrew Lee Daniel Barrowdale Julie Lecarpentier Goska Leslie Cora M Aalfs Katja K H Aben Marcia Adams Julian Adlard Irene L Andrulis Hoda Anton-Culver Natalia Antonenkova Gerasimos Aravantinos Norbert Arnold Banu K Arun Brita Arver Jacopo Azzollini Judith Balmaña Susana N Banerjee Laure Barjhoux Rosa B Barkardottir Yukie Bean Matthias W Beckmann Alicia Beeghly-Fadiel Javier Benitez Marina Bermisheva Marcus Q Bernardini Michael J Birrer Line Bjorge Amanda Black Kenneth Blankstein Marinus J Blok Clara Bodelon Natalia Bogdanova Anders Bojesen Bernardo Bonanni Åke Borg Angela R Bradbury James D Brenton Carole Brewer Louise Brinton Per Broberg Angela Brooks-Wilson Fiona Bruinsma Joan Brunet Bruno Buecher Ralf Butzow Saundra S Buys Trinidad Caldes Maria A Caligo Ian Campbell Rikki Cannioto Michael E Carney Terence Cescon Salina B Chan Jenny Chang-Claude Stephen Chanock Xiao Qing Chen Yoke-Eng Chiew Jocelyne Chiquette Wendy K Chung Kathleen B M Claes Thomas Conner Linda S Cook Jackie Cook Daniel W Cramer Julie M Cunningham Aimee A D'Aloisio Mary B Daly Francesca Damiola Sakaeva Dina Damirovna Agnieszka Dansonka-Mieszkowska Fanny Dao Rosemarie Davidson Anna DeFazio Capucine Delnatte Kimberly F Doheny Orland Diez Yuan Chun Ding Jennifer Anne Doherty Susan M Domchek Cecilia M Dorfling Thilo Dörk Laure Dossus Mercedes Duran Matthias Dürst Bernd Dworniczak Diana Eccles Todd Edwards Ros Eeles Ursula Eilber Bent Ejlertsen Arif B Ekici Steve Ellis Mingajeva Elvira Kevin H Eng Christoph Engel D Gareth Evans Peter A Fasching Sarah Ferguson Sandra Fert Ferrer James M Flanagan Zachary C Fogarty Renée T Fortner Florentia Fostira William D Foulkes George Fountzilas Brooke L Fridley Tara M Friebel Eitan Friedman Debra Frost Patricia A Ganz Judy Garber María J García Vanesa Garcia-Barberan Andrea Gehrig Aleksandra Gentry-Maharaj Anne-Marie Gerdes Graham G Giles Rosalind Glasspool Gord Glendon Andrew K Godwin David E Goldgar Teodora Goranova Martin Gore Mark H Greene Jacek Gronwald Stephen Gruber Eric Hahnen Christopher A Haiman Niclas Håkansson Ute Hamann Thomas V O Hansen Patricia A Harrington Holly R Harris Jan Hauke Alexander Hein Alex Henderson Michelle A T Hildebrandt Peter Hillemanns Shirley Hodgson Claus K Høgdall Estrid Høgdall Frans B L Hogervorst Helene Holland Maartje J Hooning Karen Hosking Ruea-Yea Huang Peter J Hulick Jillian Hung David J Hunter David G Huntsman Tomasz Huzarski Evgeny N Imyanitov Claudine Isaacs Edwin S Iversen Louise Izatt Angel Izquierdo Anna Jakubowska Paul James Ramunas Janavicius Mats Jernetz Allan Jensen Uffe Birk Jensen Esther M John Sharon Johnatty Michael E Jones Päivi Kannisto Beth Y Karlan Anthony Karnezis Karin Kast Catherine J Kennedy Elza Khusnutdinova Lambertus A Kiemeney Johanna I Kiiski Sung-Won Kim Susanne K Kjaer Martin Köbel Reidun K Kopperud Torben A Kruse Jolanta Kupryjanczyk Ava Kwong Yael Laitman Diether Lambrechts Nerea Larrañaga Melissa C Larson Conxi Lazaro Nhu D Le Loic Le Marchand Jong Won Lee Shashikant B Lele Arto Leminen Dominique Leroux Jenny Lester Fabienne Lesueur Douglas A Levine Dong Liang Clemens Liebrich Jenna Lilyquist Loren Lipworth Jolanta Lissowska Karen H Lu Jan Lubinński Craig Luccarini Lene Lundvall Phuong L Mai Gustavo Mendoza-Fandiño Siranoush Manoukian Leon F A G Massuger Taymaa May Sylvie Mazoyer Jessica N McAlpine Valerie McGuire John R McLaughlin Iain McNeish Hanne Meijers-Heijboer Alfons Meindl Usha Menon Arjen R Mensenkamp Melissa A Merritt Roger L Milne Gillian Mitchell Francesmary Modugno Joanna Moes-Sosnowska Melissa Moffitt Marco Montagna Kirsten B Moysich Anna Marie Mulligan Jacob Musinsky Katherine L Nathanson Lotte Nedergaard Roberta B Ness Susan L Neuhausen Heli Nevanlinna Dieter Niederacher Robert L Nussbaum Kunle Odunsi Edith Olah Olufunmilayo I Olopade Håkan Olsson Curtis Olswold David M O'Malley Kai-Ren Ong N Charlotte Onland-Moret Nicholas Orr Sandra Orsulic Ana Osorio Domenico Palli Laura Papi Tjoung-Won Park-Simon James Paul Celeste L Pearce Inge Søkilde Pedersen Petra H M Peeters Bernard Peissel Ana Peixoto Tanja Pejovic Liisa M Pelttari Jennifer B Permuth Paolo Peterlongo Lidia Pezzani Georg Pfeiler Kelly-Anne Phillips Marion Piedmonte Malcolm C Pike Anna M Piskorz Samantha R Poblete Timea Pocza Elizabeth M Poole Bruce Poppe Mary E Porteous Fabienne Prieur Darya Prokofyeva Elizabeth Pugh Miquel Angel Pujana Pascal Pujol Paolo Radice Johanna Rantala Christine Rappaport-Fuerhauser Gad Rennert Kerstin Rhiem Patricia Rice Andrea Richardson Mark Robson Gustavo C Rodriguez Cristina Rodríguez-Antona Jane Romm Matti A Rookus Mary Anne Rossing Joseph H Rothstein Anja Rudolph Ingo B Runnebaum Helga B Salvesen Dale P Sandler Minouk J Schoemaker Leigha Senter V Wendy Setiawan Gianluca Severi Priyanka Sharma Tameka Shelford Nadeem Siddiqui Lucy E Side Weiva Sieh Christian F Singer Hagay Sobol Honglin Song Melissa C Southey Amanda B Spurdle Zsofia Stadler Doris Steinemann Dominique Stoppa-Lyonnet Lara E Sucheston-Campbell Grzegorz Sukiennicki Rebecca Sutphen Christian Sutter Anthony J Swerdlow Csilla I Szabo Lukasz Szafron Yen Y Tan Jack A Taylor Muy-Kheng Tea Manuel R Teixeira Soo-Hwang Teo Kathryn L Terry Pamela J Thompson Liv Cecilie Vestrheim Thomsen Darcy L Thull Laima Tihomirova Anna V Tinker Marc Tischkowitz Silvia Tognazzo Amanda Ewart Toland Alicia Tone Britton Trabert Ruth C Travis Antonia Trichopoulou Nadine Tung Shelley S Tworoger Anne M van Altena David Van Den Berg Annemarie H van der Hout Rob B van der Luijt Mattias Van Heetvelde Els Van Nieuwenhuysen Elizabeth J van Rensburg Adriaan Vanderstichele Raymonda Varon-Mateeva Ana Vega Digna Velez Edwards Ignace Vergote Robert A Vierkant Joseph Vijai Athanassios Vratimos Lisa Walker Christine Walsh Dorothea Wand Shan Wang-Gohrke Barbara Wappenschmidt Penelope M Webb Clarice R Weinberg Jeffrey N Weitzel Nicolas Wentzensen Alice S Whittemore Juul T Wijnen Lynne R Wilkens Alicja Wolk Michelle Woo Xifeng Wu Anna H Wu Hannah Yang Drakoulis Yannoukakos Argyrios Ziogas Kristin K Zorn Steven A Narod Douglas F Easton Christopher I Amos Joellen M Schildkraut Susan J Ramus Laura Ottini Marc T Goodman Sue K Park Linda E Kelemen Harvey A Risch Mads Thomassen Kenneth Offit Jacques Simard Rita Katharina Schmutzler Dennis Hazelett Alvaro N Monteiro Fergus J Couch Andrew Berchuck Georgia Chenevix-Trench Ellen L Goode Thomas A Sellers Simon A Gayther Antonis C Antoniou Paul D P Pharoah

Nat Genet 2017 May 27;49(5):680-691. Epub 2017 Mar 27.

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.3826DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5612337PMC
May 2017

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

Authors:
Yosr Hamdi Penny Soucy Karoline B Kuchenbaeker Tomi Pastinen Arnaud Droit Audrey Lemaçon Julian Adlard Kristiina Aittomäki Irene L Andrulis Adalgeir Arason Norbert Arnold Banu K Arun Jacopo Azzollini Anita Bane Laure Barjhoux Daniel Barrowdale Javier Benitez Pascaline Berthet Marinus J Blok Kristie Bobolis Valérie Bonadona Bernardo Bonanni Angela R Bradbury Carole Brewer Bruno Buecher Saundra S Buys Maria A Caligo Jocelyne Chiquette Wendy K Chung Kathleen B M Claes Mary B Daly Francesca Damiola Rosemarie Davidson Miguel De la Hoya Kim De Leeneer Orland Diez Yuan Chun Ding Riccardo Dolcetti Susan M Domchek Cecilia M Dorfling Diana Eccles Ros Eeles Zakaria Einbeigi Bent Ejlertsen Christoph Engel D Gareth Evans Lidia Feliubadalo Lenka Foretova Florentia Fostira William D Foulkes George Fountzilas Eitan Friedman Debra Frost Pamela Ganschow Patricia A Ganz Judy Garber Simon A Gayther Anne-Marie Gerdes Gord Glendon Andrew K Godwin David E Goldgar Mark H Greene Jacek Gronwald Eric Hahnen Ute Hamann Thomas V O Hansen Steven Hart John L Hays Frans B L Hogervorst Peter J Hulick Evgeny N Imyanitov Claudine Isaacs Louise Izatt Anna Jakubowska Paul James Ramunas Janavicius Uffe Birk Jensen Esther M John Vijai Joseph Walter Just Katarzyna Kaczmarek Beth Y Karlan Carolien M Kets Judy Kirk Mieke Kriege Yael Laitman Maïté Laurent Conxi Lazaro Goska Leslie Jenny Lester Fabienne Lesueur Annelie Liljegren Niklas Loman Jennifer T Loud Siranoush Manoukian Milena Mariani Sylvie Mazoyer Lesley McGuffog Hanne E J Meijers-Heijboer Alfons Meindl Austin Miller Marco Montagna Anna Marie Mulligan Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Robert L Nussbaum Edith Olah Olufunmilayo I Olopade Kai-Ren Ong Jan C Oosterwijk Ana Osorio Laura Papi Sue Kyung Park Inge Sokilde Pedersen Bernard Peissel Pedro Perez Segura Paolo Peterlongo Catherine M Phelan Paolo Radice Johanna Rantala Christine Rappaport-Fuerhauser Gad Rennert Andrea Richardson Mark Robson Gustavo C Rodriguez Matti A Rookus Rita Katharina Schmutzler Nicolas Sevenet Payal D Shah Christian F Singer Thomas P Slavin Katie Snape Johanna Sokolowska Ida Marie Heeholm Sønderstrup Melissa Southey Amanda B Spurdle Zsofia Stadler Dominique Stoppa-Lyonnet Grzegorz Sukiennicki Christian Sutter Yen Tan Muy-Kheng Tea Manuel R Teixeira Alex Teulé Soo-Hwang Teo Mary Beth Terry Mads Thomassen Laima Tihomirova Marc Tischkowitz Silvia Tognazzo Amanda Ewart Toland Nadine Tung Ans M W van den Ouweland Rob B van der Luijt Klaartje van Engelen Elizabeth J van Rensburg Raymonda Varon-Mateeva Barbara Wappenschmidt Juul T Wijnen Timothy Rebbeck Georgia Chenevix-Trench Kenneth Offit Fergus J Couch Silje Nord Douglas F Easton Antonis C Antoniou Jacques Simard

Breast Cancer Res Treat 2017 01 28;161(1):117-134. Epub 2016 Oct 28.

Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec, QC, G1V 4G2, Canada.

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http://dx.doi.org/10.1007/s10549-016-4018-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5222911PMC
January 2017

Incorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model.

Genet Med 2016 12 14;18(12):1190-1198. Epub 2016 Apr 14.

Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, The University of Cambridge, Strangeways Research Laboratory, Cambridge, UK.

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http://dx.doi.org/10.1038/gim.2016.31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5086091PMC
December 2016

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.

Authors:
Melissa C Southey David E Goldgar Robert Winqvist Katri Pylkäs Fergus Couch Marc Tischkowitz William D Foulkes Joe Dennis Kyriaki Michailidou Elizabeth J van Rensburg Tuomas Heikkinen Heli Nevanlinna John L Hopper Thilo Dörk Kathleen Bm Claes Jorge Reis-Filho Zhi Ling Teo Paolo Radice Irene Catucci Paolo Peterlongo Helen Tsimiklis Fabrice A Odefrey James G Dowty Marjanka K Schmidt Annegien Broeks Frans B Hogervorst Senno Verhoef Jane Carpenter Christine Clarke Rodney J Scott Peter A Fasching Lothar Haeberle Arif B Ekici Matthias W Beckmann Julian Peto Isabel Dos-Santos-Silva Olivia Fletcher Nichola Johnson Manjeet K Bolla Elinor J Sawyer Ian Tomlinson Michael J Kerin Nicola Miller Federik Marme Barbara Burwinkel Rongxi Yang Pascal Guénel Thérèse Truong Florence Menegaux Marie Sanchez Stig Bojesen Sune F Nielsen Henrik Flyger Javier Benitez M Pilar Zamora Jose Ignacio Arias Perez Primitiva Menéndez Hoda Anton-Culver Susan Neuhausen Argyrios Ziogas Christina A Clarke Hermann Brenner Volker Arndt Christa Stegmaier Hiltrud Brauch Thomas Brüning Yon-Dschun Ko Taru A Muranen Kristiina Aittomäki Carl Blomqvist Natalia V Bogdanova Natalia N Antonenkova Annika Lindblom Sara Margolin Arto Mannermaa Vesa Kataja Veli-Matti Kosma Jaana M Hartikainen Amanda B Spurdle kConFab Investigators Els Wauters Dominiek Smeets Benoit Beuselinck Giuseppe Floris Jenny Chang-Claude Anja Rudolph Petra Seibold Dieter Flesch-Janys Janet E Olson Celine Vachon Vernon S Pankratz Catriona McLean Christopher A Haiman Brian E Henderson Fredrick Schumacher Loic Le Marchand Vessela Kristensen Grethe Grenaker Alnæs Wei Zheng David J Hunter Sara Lindstrom Susan E Hankinson Peter Kraft Irene Andrulis Julia A Knight Gord Glendon Anna Marie Mulligan Arja Jukkola-Vuorinen Mervi Grip Saila Kauppila Peter Devilee Robert A E M Tollenaar Caroline Seynaeve Antoinette Hollestelle Montserrat Garcia-Closas Jonine Figueroa Stephen J Chanock Jolanta Lissowska Kamila Czene Hatef Darabi Mikael Eriksson Diana M Eccles Sajjad Rafiq William J Tapper Sue M Gerty Maartje J Hooning John W M Martens J Margriet Collée Madeleine Tilanus-Linthorst Per Hall Jingmei Li Judith S Brand Keith Humphreys Angela Cox Malcolm W R Reed Craig Luccarini Caroline Baynes Alison M Dunning Ute Hamann Diana Torres Hans Ulrich Ulmer Thomas Rüdiger Anna Jakubowska Jan Lubinski Katarzyna Jaworska Katarzyna Durda Susan Slager Amanda E Toland Christine B Ambrosone Drakoulis Yannoukakos Anthony Swerdlow Alan Ashworth Nick Orr Michael Jones Anna González-Neira Guillermo Pita M Rosario Alonso Nuria Álvarez Daniel Herrero Daniel C Tessier Daniel Vincent Francois Bacot Jacques Simard Martine Dumont Penny Soucy Rosalind Eeles Kenneth Muir Fredrik Wiklund Henrik Gronberg Johanna Schleutker Børge G Nordestgaard Maren Weischer Ruth C Travis David Neal Jenny L Donovan Freddie C Hamdy Kay-Tee Khaw Janet L Stanford William J Blot Stephen Thibodeau Daniel J Schaid Joseph L Kelley Christiane Maier Adam S Kibel Cezary Cybulski Lisa Cannon-Albright Katja Butterbach Jong Park Radka Kaneva Jyotsna Batra Manuel R Teixeira Zsofia Kote-Jarai Ali Amin Al Olama Sara Benlloch Stefan P Renner Arndt Hartmann Alexander Hein Matthias Ruebner Diether Lambrechts Els Van Nieuwenhuysen Ignace Vergote Sandrina Lambretchs Jennifer A Doherty Mary Anne Rossing Stefan Nickels Ursula Eilber Shan Wang-Gohrke Kunle Odunsi Lara E Sucheston-Campbell Grace Friel Galina Lurie Jeffrey L Killeen Lynne R Wilkens Marc T Goodman Ingo Runnebaum Peter A Hillemanns Liisa M Pelttari Ralf Butzow Francesmary Modugno Robert P Edwards Roberta B Ness Kirsten B Moysich Andreas du Bois Florian Heitz Philipp Harter Stefan Kommoss Beth Y Karlan Christine Walsh Jenny Lester Allan Jensen Susanne Krüger Kjaer Estrid Høgdall Bernard Peissel Bernardo Bonanni Loris Bernard Ellen L Goode Brooke L Fridley Robert A Vierkant Julie M Cunningham Melissa C Larson Zachary C Fogarty Kimberly R Kalli Dong Liang Karen H Lu Michelle A T Hildebrandt Xifeng Wu Douglas A Levine Fanny Dao Maria Bisogna Andrew Berchuck Edwin S Iversen Jeffrey R Marks Lucy Akushevich Daniel W Cramer Joellen Schildkraut Kathryn L Terry Elizabeth M Poole Meir Stampfer Shelley S Tworoger Elisa V Bandera Irene Orlow Sara H Olson Line Bjorge Helga B Salvesen Anne M van Altena Katja K H Aben Lambertus A Kiemeney Leon F A G Massuger Tanja Pejovic Yukie Bean Angela Brooks-Wilson Linda E Kelemen Linda S Cook Nhu D Le Bohdan Górski Jacek Gronwald Janusz Menkiszak Claus K Høgdall Lene Lundvall Lotte Nedergaard Svend Aage Engelholm Ed Dicks Jonathan Tyrer Ian Campbell Iain McNeish James Paul Nadeem Siddiqui Rosalind Glasspool Alice S Whittemore Joseph H Rothstein Valerie McGuire Weiva Sieh Hui Cai Xiao-Ou Shu Rachel T Teten Rebecca Sutphen John R McLaughlin Steven A Narod Catherine M Phelan Alvaro N Monteiro David Fenstermacher Hui-Yi Lin Jennifer B Permuth Thomas A Sellers Y Ann Chen Ya-Yu Tsai Zhihua Chen Aleksandra Gentry-Maharaj Simon A Gayther Susan J Ramus Usha Menon Anna H Wu Celeste L Pearce David Van Den Berg Malcolm C Pike Agnieszka Dansonka-Mieszkowska Joanna Plisiecka-Halasa Joanna Moes-Sosnowska Jolanta Kupryjanczyk Paul Dp Pharoah Honglin Song Ingrid Winship Georgia Chenevix-Trench Graham G Giles Sean V Tavtigian Doug F Easton Roger L Milne

J Med Genet 2016 12 5;53(12):800-811. Epub 2016 Sep 5.

Centre for Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Melbourne, Australia.

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http://dx.doi.org/10.1136/jmedgenet-2016-103839DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5200636PMC
December 2016

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.

Authors:
Timothy R Rebbeck Tara M Friebel Nandita Mitra Fei Wan Stephanie Chen Irene L Andrulis Paraskevi Apostolou Norbert Arnold Banu K Arun Daniel Barrowdale Javier Benitez Raanan Berger Pascaline Berthet Ake Borg Saundra S Buys Trinidad Caldes Jonathan Carter Jocelyne Chiquette Kathleen B M Claes Fergus J Couch Cezary Cybulski Mary B Daly Miguel de la Hoya Orland Diez Susan M Domchek Katherine L Nathanson Katarzyna Durda Steve Ellis D Gareth Evans Lenka Foretova Eitan Friedman Debra Frost Patricia A Ganz Judy Garber Gord Glendon Andrew K Godwin Mark H Greene Jacek Gronwald Eric Hahnen Emily Hallberg Ute Hamann Thomas V O Hansen Evgeny N Imyanitov Claudine Isaacs Anna Jakubowska Ramunas Janavicius Katarzyna Jaworska-Bieniek Esther M John Beth Y Karlan Bella Kaufman KConFab Investigators Ava Kwong Yael Laitman Christine Lasset Conxi Lazaro Jenny Lester Niklas Loman Jan Lubinski Siranoush Manoukian Gillian Mitchell Marco Montagna Susan L Neuhausen Heli Nevanlinna Dieter Niederacher Robert L Nussbaum Kenneth Offit Edith Olah Olufunmilayo I Olopade Sue Kyung Park Marion Piedmonte Paolo Radice Christine Rappaport-Fuerhauser Matti A Rookus Caroline Seynaeve Jacques Simard Christian F Singer Penny Soucy Melissa Southey Dominique Stoppa-Lyonnet Grzegorz Sukiennicki Csilla I Szabo Mariella Tancredi Manuel R Teixeira Soo-Hwang Teo Mary Beth Terry Mads Thomassen Laima Tihomirova Marc Tischkowitz Amanda Ewart Toland Aleksandra Toloczko-Grabarek Nadine Tung Elizabeth J van Rensburg Danylo Villano Shan Wang-Gohrke Barbara Wappenschmidt Jeffrey N Weitzel Jamal Zidan Kristin K Zorn Lesley McGuffog Douglas Easton Georgia Chenevix-Trench Antonis C Antoniou Susan J Ramus

Breast Cancer Res 2016 11 11;18(1):112. Epub 2016 Nov 11.

Department of Preventive Medicine, Keck School of Medicine, USC/Norris Comprehensive Cancer Center, University of Southern California, California, USA.

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http://breast-cancer-research.biomedcentral.com/articles/10.
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http://dx.doi.org/10.1186/s13058-016-0768-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5106833PMC
November 2016

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus.

Authors:
Chenjie Zeng Xingyi Guo Jirong Long Karoline B Kuchenbaecker Arnaud Droit Kyriaki Michailidou Maya Ghoussaini Siddhartha Kar Adam Freeman John L Hopper Roger L Milne Manjeet K Bolla Qin Wang Joe Dennis Simona Agata Shahana Ahmed Kristiina Aittomäki Irene L Andrulis Hoda Anton-Culver Natalia N Antonenkova Adalgeir Arason Volker Arndt Banu K Arun Brita Arver Francois Bacot Daniel Barrowdale Caroline Baynes Alicia Beeghly-Fadiel Javier Benitez Marina Bermisheva Carl Blomqvist William J Blot Natalia V Bogdanova Stig E Bojesen Bernardo Bonanni Anne-Lise Borresen-Dale Judith S Brand Hiltrud Brauch Paul Brennan Hermann Brenner Annegien Broeks Thomas Brüning Barbara Burwinkel Saundra S Buys Qiuyin Cai Trinidad Caldes Ian Campbell Jane Carpenter Jenny Chang-Claude Ji-Yeob Choi Kathleen B M Claes Christine Clarke Angela Cox Simon S Cross Kamila Czene Mary B Daly Miguel de la Hoya Kim De Leeneer Peter Devilee Orland Diez Susan M Domchek Michele Doody Cecilia M Dorfling Thilo Dörk Isabel Dos-Santos-Silva Martine Dumont Miriam Dwek Bernd Dworniczak Kathleen Egan Ursula Eilber Zakaria Einbeigi Bent Ejlertsen Steve Ellis Debra Frost Fiona Lalloo Peter A Fasching Jonine Figueroa Henrik Flyger Michael Friedlander Eitan Friedman Gaetana Gambino Yu-Tang Gao Judy Garber Montserrat García-Closas Andrea Gehrig Francesca Damiola Fabienne Lesueur Sylvie Mazoyer Dominique Stoppa-Lyonnet Graham G Giles Andrew K Godwin David E Goldgar Anna González-Neira Mark H Greene Pascal Guénel Lothar Haeberle Christopher A Haiman Emily Hallberg Ute Hamann Thomas V O Hansen Steven Hart Jaana M Hartikainen Mikael Hartman Norhashimah Hassan Sue Healey Frans B L Hogervorst Senno Verhoef Carolyn B Hendricks Peter Hillemanns Antoinette Hollestelle Peter J Hulick David J Hunter Evgeny N Imyanitov Claudine Isaacs Hidemi Ito Anna Jakubowska Ramunas Janavicius Katarzyna Jaworska-Bieniek Uffe Birk Jensen Esther M John Charles Joly Beauparlant Michael Jones Maria Kabisch Daehee Kang Beth Y Karlan Saila Kauppila Michael J Kerin Sofia Khan Elza Khusnutdinova Julia A Knight Irene Konstantopoulou Peter Kraft Ava Kwong Yael Laitman Diether Lambrechts Conxi Lazaro Loic Le Marchand Chuen Neng Lee Min Hyuk Lee Jenny Lester Jingmei Li Annelie Liljegren Annika Lindblom Artitaya Lophatananon Jan Lubinski Phuong L Mai Arto Mannermaa Siranoush Manoukian Sara Margolin Frederik Marme Keitaro Matsuo Lesley McGuffog Alfons Meindl Florence Menegaux Marco Montagna Kenneth Muir Anna Marie Mulligan Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Polly A Newcomb Silje Nord Robert L Nussbaum Kenneth Offit Edith Olah Olufunmilayo I Olopade Curtis Olswold Ana Osorio Laura Papi Tjoung-Won Park-Simon Ylva Paulsson-Karlsson Stephanie Peeters Bernard Peissel Paolo Peterlongo Julian Peto Georg Pfeiler Catherine M Phelan Nadege Presneau Paolo Radice Nazneen Rahman Susan J Ramus Muhammad Usman Rashid Gad Rennert Kerstin Rhiem Anja Rudolph Ritu Salani Suleeporn Sangrajrang Elinor J Sawyer Marjanka K Schmidt Rita K Schmutzler Minouk J Schoemaker Peter Schürmann Caroline Seynaeve Chen-Yang Shen Martha J Shrubsole Xiao-Ou Shu Alice Sigurdson Christian F Singer Susan Slager Penny Soucy Melissa Southey Doris Steinemann Anthony Swerdlow Csilla I Szabo Sandrine Tchatchou Manuel R Teixeira Soo H Teo Mary Beth Terry Daniel C Tessier Alex Teulé Mads Thomassen Laima Tihomirova Marc Tischkowitz Amanda E Toland Nadine Tung Clare Turnbull Ans M W van den Ouweland Elizabeth J van Rensburg David Ven den Berg Joseph Vijai Shan Wang-Gohrke Jeffrey N Weitzel Alice S Whittemore Robert Winqvist Tien Y Wong Anna H Wu Drakoulis Yannoukakos Jyh-Cherng Yu Paul D P Pharoah Per Hall Georgia Chenevix-Trench Alison M Dunning Jacques Simard Fergus J Couch Antonis C Antoniou Douglas F Easton Wei Zheng

Breast Cancer Res 2016 06 21;18(1):64. Epub 2016 Jun 21.

Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, 2525 West End Avenue, 8th Floor, Nashville, TN, 37203-1738, USA.

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http://dx.doi.org/10.1186/s13058-016-0718-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4962376PMC
June 2016

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

Authors:
Antoinette Hollestelle Frederieke H van der Baan Andrew Berchuck Sharon E Johnatty Katja K Aben Bjarni A Agnarsson Kristiina Aittomäki Elisa Alducci Irene L Andrulis Hoda Anton-Culver Natalia N Antonenkova Antonis C Antoniou Carmel Apicella Volker Arndt Norbert Arnold Banu K Arun Brita Arver Alan Ashworth Laura Baglietto Rosemary Balleine Elisa V Bandera Daniel Barrowdale Yukie T Bean Lars Beckmann Matthias W Beckmann Javier Benitez Andreas Berger Raanan Berger Benoit Beuselinck Maria Bisogna Line Bjorge Carl Blomqvist Natalia V Bogdanova Anders Bojesen Stig E Bojesen Manjeet K Bolla Bernardo Bonanni Judith S Brand Hiltrud Brauch Hermann Brenner Louise Brinton Angela Brooks-Wilson Fiona Bruinsma Joan Brunet Thomas Brüning Agnieszka Budzilowska Clareann H Bunker Barbara Burwinkel Ralf Butzow Saundra S Buys Maria A Caligo Ian Campbell Jonathan Carter Jenny Chang-Claude Stephen J Chanock Kathleen B M Claes J Margriet Collée Linda S Cook Fergus J Couch Angela Cox Daniel Cramer Simon S Cross Julie M Cunningham Cezary Cybulski Kamila Czene Francesca Damiola Agnieszka Dansonka-Mieszkowska Hatef Darabi Miguel de la Hoya Anna deFazio Joseph Dennis Peter Devilee Ed M Dicks Orland Diez Jennifer A Doherty Susan M Domchek Cecilia M Dorfling Thilo Dörk Isabel Dos Santos Silva Andreas du Bois Martine Dumont Alison M Dunning Mercedes Duran Douglas F Easton Diana Eccles Robert P Edwards Hans Ehrencrona Bent Ejlertsen Arif B Ekici Steve D Ellis Christoph Engel Mikael Eriksson Peter A Fasching Lidia Feliubadalo Jonine Figueroa Dieter Flesch-Janys Olivia Fletcher Annette Fontaine Stefano Fortuzzi Florentia Fostira Brooke L Fridley Tara Friebel Eitan Friedman Grace Friel Debra Frost Judy Garber Montserrat García-Closas Simon A Gayther Aleksandra Gentry-Maharaj Anne-Marie Gerdes Graham G Giles Rosalind Glasspool Gord Glendon Andrew K Godwin Marc T Goodman Martin Gore Mark H Greene Mervi Grip Jacek Gronwald Daphne Gschwantler Kaulich Pascal Guénel Starr R Guzman Lothar Haeberle Christopher A Haiman Per Hall Sandra L Halverson Ute Hamann Thomas V O Hansen Philipp Harter Jaana M Hartikainen Sue Healey Alexander Hein Florian Heitz Brian E Henderson Josef Herzog Michelle A T Hildebrandt Claus K Høgdall Estrid Høgdall Frans B L Hogervorst John L Hopper Keith Humphreys Tomasz Huzarski Evgeny N Imyanitov Claudine Isaacs Anna Jakubowska Ramunas Janavicius Katarzyna Jaworska Allan Jensen Uffe Birk Jensen Nichola Johnson Arja Jukkola-Vuorinen Maria Kabisch Beth Y Karlan Vesa Kataja Noah Kauff Linda E Kelemen Michael J Kerin Lambertus A Kiemeney Susanne K Kjaer Julia A Knight Jacoba P Knol-Bout Irene Konstantopoulou Veli-Matti Kosma Camilla Krakstad Vessela Kristensen Karoline B Kuchenbaecker Jolanta Kupryjanczyk Yael Laitman Diether Lambrechts Sandrina Lambrechts Melissa C Larson Adriana Lasa Pierre Laurent-Puig Conxi Lazaro Nhu D Le Loic Le Marchand Arto Leminen Jenny Lester Douglas A Levine Jingmei Li Dong Liang Annika Lindblom Noralane Lindor Jolanta Lissowska Jirong Long Karen H Lu Jan Lubinski Lene Lundvall Galina Lurie Phuong L Mai Arto Mannermaa Sara Margolin Frederique Mariette Frederik Marme John W M Martens Leon F A G Massuger Christine Maugard Sylvie Mazoyer Lesley McGuffog Valerie McGuire Catriona McLean Iain McNeish Alfons Meindl Florence Menegaux Primitiva Menéndez Janusz Menkiszak Usha Menon Arjen R Mensenkamp Nicola Miller Roger L Milne Francesmary Modugno Marco Montagna Kirsten B Moysich Heiko Müller Anna Marie Mulligan Taru A Muranen Steven A Narod Katherine L Nathanson Roberta B Ness Susan L Neuhausen Heli Nevanlinna Patrick Neven Finn C Nielsen Sune F Nielsen Børge G Nordestgaard Robert L Nussbaum Kunle Odunsi Kenneth Offit Edith Olah Olufunmilayo I Olopade Janet E Olson Sara H Olson Jan C Oosterwijk Irene Orlow Nick Orr Sandra Orsulic Ana Osorio Laura Ottini James Paul Celeste L Pearce Inge Sokilde Pedersen Bernard Peissel Tanja Pejovic Liisa M Pelttari Jo Perkins Jenny Permuth-Wey Paolo Peterlongo Julian Peto Catherine M Phelan Kelly-Anne Phillips Marion Piedmonte Malcolm C Pike Radka Platte Joanna Plisiecka-Halasa Elizabeth M Poole Bruce Poppe Katri Pylkäs Paolo Radice Susan J Ramus Timothy R Rebbeck Malcolm W R Reed Gad Rennert Harvey A Risch Mark Robson Gustavo C Rodriguez Atocha Romero Mary Anne Rossing Joseph H Rothstein Anja Rudolph Ingo Runnebaum Ritu Salani Helga B Salvesen Elinor J Sawyer Joellen M Schildkraut Marjanka K Schmidt Rita K Schmutzler Andreas Schneeweiss Minouk J Schoemaker Michael G Schrauder Fredrick Schumacher Ira Schwaab Giulietta Scuvera Thomas A Sellers Gianluca Severi Caroline M Seynaeve Mitul Shah Martha Shrubsole Nadeem Siddiqui Weiva Sieh Jacques Simard Christian F Singer Olga M Sinilnikova Dominiek Smeets Christof Sohn Maria Soller Honglin Song Penny Soucy Melissa C Southey Christa Stegmaier Dominique Stoppa-Lyonnet Lara Sucheston Anthony Swerdlow Ingvild L Tangen Muy-Kheng Tea Manuel R Teixeira Kathryn L Terry Mary Beth Terry Mads Thomassen Pamela J Thompson Laima Tihomirova Marc Tischkowitz Amanda Ewart Toland Rob A E M Tollenaar Ian Tomlinson Diana Torres Thérèse Truong Helen Tsimiklis Nadine Tung Shelley S Tworoger Jonathan P Tyrer Celine M Vachon Laura J Van 't Veer Anne M van Altena C J Van Asperen David van den Berg Ans M W van den Ouweland Helena C van Doorn Els Van Nieuwenhuysen Elizabeth J van Rensburg Ignace Vergote Senno Verhoef Robert A Vierkant Joseph Vijai Allison F Vitonis Anna von Wachenfeldt Christine Walsh Qin Wang Shan Wang-Gohrke Barbara Wappenschmidt Maren Weischer Jeffrey N Weitzel Caroline Weltens Nicolas Wentzensen Alice S Whittemore Lynne R Wilkens Robert Winqvist Anna H Wu Xifeng Wu Hannah P Yang Daniela Zaffaroni M Pilar Zamora Wei Zheng Argyrios Ziogas Georgia Chenevix-Trench Paul D P Pharoah Matti A Rookus Maartje J Hooning Ellen L Goode

Gynecol Oncol 2016 05 2;141(2):386-401. Epub 2015 May 2.

Department of Health Sciences Research, Division of Epidemiology, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1016/j.ygyno.2015.04.034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4630206PMC
May 2016

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

Authors:
Alison M Dunning Kyriaki Michailidou Karoline B Kuchenbaecker Deborah Thompson Juliet D French Jonathan Beesley Catherine S Healey Siddhartha Kar Karen A Pooley Elena Lopez-Knowles Ed Dicks Daniel Barrowdale Nicholas A Sinnott-Armstrong Richard C Sallari Kristine M Hillman Susanne Kaufmann Haran Sivakumaran Mahdi Moradi Marjaneh Jason S Lee Margaret Hills Monika Jarosz Suzie Drury Sander Canisius Manjeet K Bolla Joe Dennis Qin Wang John L Hopper Melissa C Southey Annegien Broeks Marjanka K Schmidt Artitaya Lophatananon Kenneth Muir Matthias W Beckmann Peter A Fasching Isabel Dos-Santos-Silva Julian Peto Elinor J Sawyer Ian Tomlinson Barbara Burwinkel Frederik Marme Pascal Guénel Thérèse Truong Stig E Bojesen Henrik Flyger Anna González-Neira Jose I A Perez Hoda Anton-Culver Lee Eunjung Volker Arndt Hermann Brenner Alfons Meindl Rita K Schmutzler Hiltrud Brauch Ute Hamann Kristiina Aittomäki Carl Blomqvist Hidemi Ito Keitaro Matsuo Natasha Bogdanova Thilo Dörk Annika Lindblom Sara Margolin Veli-Matti Kosma Arto Mannermaa Chiu-Chen Tseng Anna H Wu Diether Lambrechts Hans Wildiers Jenny Chang-Claude Anja Rudolph Paolo Peterlongo Paolo Radice Janet E Olson Graham G Giles Roger L Milne Christopher A Haiman Brian E Henderson Mark S Goldberg Soo H Teo Cheng Har Yip Silje Nord Anne-Lise Borresen-Dale Vessela Kristensen Jirong Long Wei Zheng Katri Pylkäs Robert Winqvist Irene L Andrulis Julia A Knight Peter Devilee Caroline Seynaeve Jonine Figueroa Mark E Sherman Kamila Czene Hatef Darabi Antoinette Hollestelle Ans M W van den Ouweland Keith Humphreys Yu-Tang Gao Xiao-Ou Shu Angela Cox Simon S Cross William Blot Qiuyin Cai Maya Ghoussaini Barbara J Perkins Mitul Shah Ji-Yeob Choi Daehee Kang Soo Chin Lee Mikael Hartman Maria Kabisch Diana Torres Anna Jakubowska Jan Lubinski Paul Brennan Suleeporn Sangrajrang Christine B Ambrosone Amanda E Toland Chen-Yang Shen Pei-Ei Wu Nick Orr Anthony Swerdlow Lesley McGuffog Sue Healey Andrew Lee Miroslav Kapuscinski Esther M John Mary Beth Terry Mary B Daly David E Goldgar Saundra S Buys Ramunas Janavicius Laima Tihomirova Nadine Tung Cecilia M Dorfling Elizabeth J van Rensburg Susan L Neuhausen Bent Ejlertsen Thomas V O Hansen Ana Osorio Javier Benitez Rachel Rando Jeffrey N Weitzel Bernardo Bonanni Bernard Peissel Siranoush Manoukian Laura Papi Laura Ottini Irene Konstantopoulou Paraskevi Apostolou Judy Garber Muhammad Usman Rashid Debra Frost Louise Izatt Steve Ellis Andrew K Godwin Norbert Arnold Dieter Niederacher Kerstin Rhiem Nadja Bogdanova-Markov Charlotte Sagne Dominique Stoppa-Lyonnet Francesca Damiola Olga M Sinilnikova Sylvie Mazoyer Claudine Isaacs Kathleen B M Claes Kim De Leeneer Miguel de la Hoya Trinidad Caldes Heli Nevanlinna Sofia Khan Arjen R Mensenkamp Maartje J Hooning Matti A Rookus Ava Kwong Edith Olah Orland Diez Joan Brunet Miquel Angel Pujana Jacek Gronwald Tomasz Huzarski Rosa B Barkardottir Rachel Laframboise Penny Soucy Marco Montagna Simona Agata Manuel R Teixeira Sue Kyung Park Noralane Lindor Fergus J Couch Marc Tischkowitz Lenka Foretova Joseph Vijai Kenneth Offit Christian F Singer Christine Rappaport Catherine M Phelan Mark H Greene Phuong L Mai Gad Rennert Evgeny N Imyanitov Peter J Hulick Kelly-Anne Phillips Marion Piedmonte Anna Marie Mulligan Gord Glendon Anders Bojesen Mads Thomassen Maria A Caligo Sook-Yee Yoon Eitan Friedman Yael Laitman Ake Borg Anna von Wachenfeldt Hans Ehrencrona Johanna Rantala Olufunmilayo I Olopade Patricia A Ganz Robert L Nussbaum Simon A Gayther Katherine L Nathanson Susan M Domchek Banu K Arun Gillian Mitchell Beth Y Karlan Jenny Lester Gertraud Maskarinec Christy Woolcott Christopher Scott Jennifer Stone Carmel Apicella Rulla Tamimi Robert Luben Kay-Tee Khaw Åslaug Helland Vilde Haakensen Mitch Dowsett Paul D P Pharoah Jacques Simard Per Hall Montserrat García-Closas Celine Vachon Georgia Chenevix-Trench Antonis C Antoniou Douglas F Easton Stacey L Edwards

Nat Genet 2016 Apr 29;48(4):374-86. Epub 2016 Feb 29.

Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.

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April 2016

Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review.

JAMA Oncol 2016 Mar;2(3):373-9

Department of Medical Genetics, University of Cambridge and Cambridge NIHR Biomedical Research Centre, Cambridge, England.

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March 2016

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers.

Authors:
Huong D Meeks Honglin Song Kyriaki Michailidou Manjeet K Bolla Joe Dennis Qin Wang Daniel Barrowdale Debra Frost Lesley McGuffog Steve Ellis Bingjian Feng Saundra S Buys John L Hopper Melissa C Southey Andrea Tesoriero Paul A James Fiona Bruinsma Ian G Campbell Annegien Broeks Marjanka K Schmidt Frans B L Hogervorst Matthias W Beckman Peter A Fasching Olivia Fletcher Nichola Johnson Elinor J Sawyer Elio Riboli Susana Banerjee Usha Menon Ian Tomlinson Barbara Burwinkel Ute Hamann Frederik Marme Anja Rudolph Ramunas Janavicius Laima Tihomirova Nadine Tung Judy Garber Daniel Cramer Kathryn L Terry Elizabeth M Poole Shelley S Tworoger Cecilia M Dorfling Elizabeth J van Rensburg Andrew K Godwin Pascal Guénel Thérèse Truong Dominique Stoppa-Lyonnet Francesca Damiola Sylvie Mazoyer Olga M Sinilnikova Claudine Isaacs Christine Maugard Stig E Bojesen Henrik Flyger Anne-Marie Gerdes Thomas V O Hansen Allen Jensen Susanne K Kjaer Claus Hogdall Estrid Hogdall Inge Sokilde Pedersen Mads Thomassen Javier Benitez Anna González-Neira Ana Osorio Miguel de la Hoya Pedro Perez Segura Orland Diez Conxi Lazaro Joan Brunet Hoda Anton-Culver Lee Eunjung Esther M John Susan L Neuhausen Yuan Chun Ding Danielle Castillo Jeffrey N Weitzel Patricia A Ganz Robert L Nussbaum Salina B Chan Beth Y Karlan Jenny Lester Anna Wu Simon Gayther Susan J Ramus Weiva Sieh Alice S Whittermore Alvaro N A Monteiro Catherine M Phelan Mary Beth Terry Marion Piedmonte Kenneth Offit Mark Robson Douglas Levine Kirsten B Moysich Rikki Cannioto Sara H Olson Mary B Daly Katherine L Nathanson Susan M Domchek Karen H Lu Dong Liang Michelle A T Hildebrant Roberta Ness Francesmary Modugno Leigh Pearce Marc T Goodman Pamela J Thompson Hermann Brenner Katja Butterbach Alfons Meindl Eric Hahnen Barbara Wappenschmidt Hiltrud Brauch Thomas Brüning Carl Blomqvist Sofia Khan Heli Nevanlinna Liisa M Pelttari Kristiina Aittomäki Ralf Butzow Natalia V Bogdanova Thilo Dörk Annika Lindblom Sara Margolin Johanna Rantala Veli-Matti Kosma Arto Mannermaa Diether Lambrechts Patrick Neven Kathleen B M Claes Tom Van Maerken Jenny Chang-Claude Dieter Flesch-Janys Florian Heitz Raymonda Varon-Mateeva Paolo Peterlongo Paolo Radice Alessandra Viel Monica Barile Bernard Peissel Siranoush Manoukian Marco Montagna Cristina Oliani Ana Peixoto Manuel R Teixeira Anita Collavoli Emily Hallberg Janet E Olson Ellen L Goode Steven N Hart Hermela Shimelis Julie M Cunningham Graham G Giles Roger L Milne Sue Healey Kathy Tucker Christopher A Haiman Brian E Henderson Mark S Goldberg Marc Tischkowitz Jacques Simard Penny Soucy Diana M Eccles Nhu Le Anne-Lise Borresen-Dale Vessela Kristensen Helga B Salvesen Line Bjorge Elisa V Bandera Harvey Risch Wei Zheng Alicia Beeghly-Fadiel Hui Cai Katri Pylkäs Robert A E M Tollenaar Ans M W van der Ouweland Irene L Andrulis Julia A Knight Steven Narod Peter Devilee Robert Winqvist Jonine Figueroa Mark H Greene Phuong L Mai Jennifer T Loud Montserrat García-Closas Minouk J Schoemaker Kamila Czene Hatef Darabi Iain McNeish Nadeem Siddiquil Rosalind Glasspool Ava Kwong Sue K Park Soo Hwang Teo Sook-Yee Yoon Keitaro Matsuo Satoyo Hosono Yin Ling Woo Yu-Tang Gao Lenka Foretova Christian F Singer Christine Rappaport-Feurhauser Eitan Friedman Yael Laitman Gad Rennert Evgeny N Imyanitov Peter J Hulick Olufunmilayo I Olopade Leigha Senter Edith Olah Jennifer A Doherty Joellen Schildkraut Linetta B Koppert Lambertus A Kiemeney Leon F A G Massuger Linda S Cook Tanja Pejovic Jingmei Li Ake Borg Anna Öfverholm Mary Anne Rossing Nicolas Wentzensen Karin Henriksson Angela Cox Simon S Cross Barbara J Pasini Mitul Shah Maria Kabisch Diana Torres Anna Jakubowska Jan Lubinski Jacek Gronwald Bjarni A Agnarsson Jolanta Kupryjanczyk Joanna Moes-Sosnowska Florentia Fostira Irene Konstantopoulou Susan Slager Michael Jones Antonis C Antoniou Andrew Berchuck Anthony Swerdlow Georgia Chenevix-Trench Alison M Dunning Paul D P Pharoah Per Hall Douglas F Easton Fergus J Couch Amanda B Spurdle David E Goldgar

Risk reducing salpingectomy and delayed oophorectomy in high risk women: views of cancer geneticists, genetic counsellors and gynaecological oncologists in the UK.

Fam Cancer 2015 Dec;14(4):521-30

Department of Women's Cancer, EGA Institute for Women's Health, Gynaecological Cancer Research Centre, University College London, First Floor, Maple House, 149 Tottenham Court Road, London, W1T 7DN, UK.

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December 2015

Breast cancer risk in women with PALB2 mutations in different populations.

Lancet Oncol 2015 Aug;16(8):e375-6

Department of Medical Genetics, University of Cambridge, Cambridge, UK. Electronic address:

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August 2015

Gene-panel sequencing and the prediction of breast-cancer risk.

N Engl J Med 2015 Jun 27;372(23):2243-57. Epub 2015 May 27.

From the Departments of Public Health and Primary Care (D.F.E., P.D.P.P., A.C.A.), Oncology (D.F.E., P.D.P.P.), and Medical Genetics (M.T.), University of Cambridge, Cambridge, the Centre for Genomic Medicine, Institute of Human Development, Manchester Academic Health Science Centre, University of Manchester and St. Mary's Hospital, Manchester (D.G.R.E.), and the Division of Genetics and Epidemiology, Institute of Cancer Research, London (N.R.) - all in the United Kingdom; the Departments of Oncological Sciences (S.V.T.) and Dermatology (D.E.G.), Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City; the Basser Research Center for BRCA and Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia (K.L.N., S.M.D.); the Department of Human Genetics and Department of Pathology, Leiden University Medical Center, Leiden, the Netherlands (P.D.); the Department of Obstetrics and Gynecology, Division of Tumor Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany (A.M.); the Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN (F.J.C.); the Department of Pathology, School of Biomedical Sciences, Faculty of Medicine, Dentistry, and Health Sciences at the University of Melbourne, Parkville, VIC (M.S.), and the QIMR Berghofer Medical Research Institute, Herston, QLD (G.C.-T.) - both in Australia; the Clinical Genetics Service, Division of Solid Tumor Oncology, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York (M.R.); and the Program in Cancer Genetics, Departments of Human Genetics and Oncology, the Lady Davis Institute for Medical Research, and the Research Institute of the McGill University Health Center, McGill University, Montreal (W.D.F.).

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4610139PMC
June 2015

A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.

J Med Genet 2015 May 17;52(5):348-52. Epub 2015 Feb 17.

Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada Department of Human Genetics, McGill University, Montreal, Quebec, Canada Department of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, Quebec, Canada.

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May 2015

Malignant peripheral nerve sheath tumor in cowden syndrome: a first report.

J Neuropathol Exp Neurol 2015 Apr;74(4):288-92

From the East Anglian Medical Genetics Service (AT, ID, JT, SA, MT), Department of Histopathology (KA), and Molecular Malignancy Laboratory (HL), Addenbrooke's Hospital; and Department of Medical Genetics and National Institute for Health Research Cambridge Biomedical Research Center, University of Cambridge (MT), Cambridge, United Kingdom.

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April 2015

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

Authors:
Timothy R Rebbeck Nandita Mitra Fei Wan Olga M Sinilnikova Sue Healey Lesley McGuffog Sylvie Mazoyer Georgia Chenevix-Trench Douglas F Easton Antonis C Antoniou Katherine L Nathanson Yael Laitman Anya Kushnir Shani Paluch-Shimon Raanan Berger Jamal Zidan Eitan Friedman Hans Ehrencrona Marie Stenmark-Askmalm Zakaria Einbeigi Niklas Loman Katja Harbst Johanna Rantala Beatrice Melin Dezheng Huo Olufunmilayo I Olopade Joyce Seldon Patricia A Ganz Robert L Nussbaum Salina B Chan Kunle Odunsi Simon A Gayther Susan M Domchek Banu K Arun Karen H Lu Gillian Mitchell Beth Y Karlan Christine Walsh Jenny Lester Andrew K Godwin Harsh Pathak Eric Ross Mary B Daly Alice S Whittemore Esther M John Alexander Miron Mary Beth Terry Wendy K Chung David E Goldgar Saundra S Buys Ramunas Janavicius Laima Tihomirova Nadine Tung Cecilia M Dorfling Elizabeth J van Rensburg Linda Steele Susan L Neuhausen Yuan Chun Ding Bent Ejlertsen Anne-Marie Gerdes Thomas v O Hansen Teresa Ramón y Cajal Ana Osorio Javier Benitez Javier Godino Maria-Isabel Tejada Mercedes Duran Jeffrey N Weitzel Kristie A Bobolis Sharon R Sand Annette Fontaine Antonella Savarese Barbara Pasini Bernard Peissel Bernardo Bonanni Daniela Zaffaroni Francesca Vignolo-Lutati Giulietta Scuvera Giuseppe Giannini Loris Bernard Maurizio Genuardi Paolo Radice Riccardo Dolcetti Siranoush Manoukian Valeria Pensotti Viviana Gismondi Drakoulis Yannoukakos Florentia Fostira Judy Garber Diana Torres Muhammad Usman Rashid Ute Hamann Susan Peock Debra Frost Radka Platte D Gareth Evans Rosalind Eeles Rosemarie Davidson Diana Eccles Trevor Cole Jackie Cook Carole Brewer Shirley Hodgson Patrick J Morrison Lisa Walker Mary E Porteous M John Kennedy Louise Izatt Julian Adlard Alan Donaldson Steve Ellis Priyanka Sharma Rita Katharina Schmutzler Barbara Wappenschmidt Alexandra Becker Kerstin Rhiem Eric Hahnen Christoph Engel Alfons Meindl Stefanie Engert Nina Ditsch Norbert Arnold Hans Jörg Plendl Christoph Mundhenke Dieter Niederacher Markus Fleisch Christian Sutter C R Bartram Nicola Dikow Shan Wang-Gohrke Dorothea Gadzicki Doris Steinemann Karin Kast Marit Beer Raymonda Varon-Mateeva Andrea Gehrig Bernhard H Weber Dominique Stoppa-Lyonnet Olga M Sinilnikova Sylvie Mazoyer Claude Houdayer Muriel Belotti Marion Gauthier-Villars Francesca Damiola Nadia Boutry-Kryza Christine Lasset Hagay Sobol Jean-Philippe Peyrat Danièle Muller Jean-Pierre Fricker Marie-Agnès Collonge-Rame Isabelle Mortemousque Catherine Nogues Etienne Rouleau Claudine Isaacs Anne De Paepe Bruce Poppe Kathleen Claes Kim De Leeneer Marion Piedmonte Gustavo Rodriguez Katie Wakely John Boggess Stephanie V Blank Jack Basil Masoud Azodi Kelly-Anne Phillips Trinidad Caldes Miguel de la Hoya Atocha Romero Heli Nevanlinna Kristiina Aittomäki Annemarie H van der Hout Frans B L Hogervorst Senno Verhoef J Margriet Collée Caroline Seynaeve Jan C Oosterwijk Johannes J P Gille Juul T Wijnen Encarna B Gómez Garcia Carolien M Kets Margreet G E M Ausems Cora M Aalfs Peter Devilee Arjen R Mensenkamp Ava Kwong Edith Olah Janos Papp Orland Diez Conxi Lazaro Esther Darder Ignacio Blanco Mónica Salinas Anna Jakubowska Jan Lubinski Jacek Gronwald Katarzyna Jaworska-Bieniek Katarzyna Durda Grzegorz Sukiennicki Tomasz Huzarski Tomasz Byrski Cezary Cybulski Aleksandra Toloczko-Grabarek Elżbieta Złowocka-Perłowska Janusz Menkiszak Adalgeir Arason Rosa B Barkardottir Jacques Simard Rachel Laframboise Marco Montagna Simona Agata Elisa Alducci Ana Peixoto Manuel R Teixeira Amanda B Spurdle Min Hyuk Lee Sue K Park Sung-Won Kim Tara M Friebel Fergus J Couch Noralane M Lindor Vernon S Pankratz Lucia Guidugli Xianshu Wang Marc Tischkowitz Lenka Foretova Joseph Vijai Kenneth Offit Mark Robson Rohini Rau-Murthy Noah Kauff Anneliese Fink-Retter Christian F Singer Christine Rappaport Daphne Gschwantler-Kaulich Georg Pfeiler Muy-Kheng Tea Andreas Berger Mark H Greene Phuong L Mai Evgeny N Imyanitov Amanda Ewart Toland Leigha Senter Anders Bojesen Inge Sokilde Pedersen Anne-Bine Skytte Lone Sunde Mads Thomassen Sanne Traasdahl Moeller Torben A Kruse Uffe Birk Jensen Maria Adelaide Caligo Paolo Aretini Soo-Hwang Teo Christina G Selkirk Peter J Hulick Irene Andrulis

JAMA 2015 Apr;313(13):1347-61

Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital and University of Toronto, Toronto, Ontario, Canada.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4537700PMC
April 2015

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.

Authors:
Sophie Blein Claire Bardel Vincent Danjean Lesley McGuffog Sue Healey Daniel Barrowdale Andrew Lee Joe Dennis Karoline B Kuchenbaecker Penny Soucy Mary Beth Terry Wendy K Chung David E Goldgar Saundra S Buys Ramunas Janavicius Laima Tihomirova Nadine Tung Cecilia M Dorfling Elizabeth J van Rensburg Susan L Neuhausen Yuan Chun Ding Anne-Marie Gerdes Bent Ejlertsen Finn C Nielsen Thomas Vo Hansen Ana Osorio Javier Benitez Raquel Andrés Conejero Ena Segota Jeffrey N Weitzel Margo Thelander Paolo Peterlongo Paolo Radice Valeria Pensotti Riccardo Dolcetti Bernardo Bonanni Bernard Peissel Daniela Zaffaroni Giulietta Scuvera Siranoush Manoukian Liliana Varesco Gabriele L Capone Laura Papi Laura Ottini Drakoulis Yannoukakos Irene Konstantopoulou Judy Garber Ute Hamann Alan Donaldson Angela Brady Carole Brewer Claire Foo D Gareth Evans Debra Frost Diana Eccles Fiona Douglas Jackie Cook Julian Adlard Julian Barwell Lisa Walker Louise Izatt Lucy E Side M John Kennedy Marc Tischkowitz Mark T Rogers Mary E Porteous Patrick J Morrison Radka Platte Ros Eeles Rosemarie Davidson Shirley Hodgson Trevor Cole Andrew K Godwin Claudine Isaacs Kathleen Claes Kim De Leeneer Alfons Meindl Andrea Gehrig Barbara Wappenschmidt Christian Sutter Christoph Engel Dieter Niederacher Doris Steinemann Hansjoerg Plendl Karin Kast Kerstin Rhiem Nina Ditsch Norbert Arnold Raymonda Varon-Mateeva Rita K Schmutzler Sabine Preisler-Adams Nadja Bogdanova Markov Shan Wang-Gohrke Antoine de Pauw Cédrick Lefol Christine Lasset Dominique Leroux Etienne Rouleau Francesca Damiola Hélène Dreyfus Laure Barjhoux Lisa Golmard Nancy Uhrhammer Valérie Bonadona Valérie Sornin Yves-Jean Bignon Jonathan Carter Linda Van Le Marion Piedmonte Paul A DiSilvestro Miguel de la Hoya Trinidad Caldes Heli Nevanlinna Kristiina Aittomäki Agnes Jager Ans Mw van den Ouweland Carolien M Kets Cora M Aalfs Flora E van Leeuwen Frans Bl Hogervorst Hanne Ej Meijers-Heijboer Jan C Oosterwijk Kees Ep van Roozendaal Matti A Rookus Peter Devilee Rob B van der Luijt Edith Olah Orland Diez Alex Teulé Conxi Lazaro Ignacio Blanco Jesús Del Valle Anna Jakubowska Grzegorz Sukiennicki Jacek Gronwald Jan Lubinski Katarzyna Durda Katarzyna Jaworska-Bieniek Bjarni A Agnarsson Christine Maugard Alberto Amadori Marco Montagna Manuel R Teixeira Amanda B Spurdle William Foulkes Curtis Olswold Noralane M Lindor Vernon S Pankratz Csilla I Szabo Anne Lincoln Lauren Jacobs Marina Corines Mark Robson Joseph Vijai Andreas Berger Anneliese Fink-Retter Christian F Singer Christine Rappaport Daphne Geschwantler Kaulich Georg Pfeiler Muy-Kheng Tea Mark H Greene Phuong L Mai Gad Rennert Evgeny N Imyanitov Anna Marie Mulligan Gord Glendon Irene L Andrulis Sandrine Tchatchou Amanda Ewart Toland Inge Sokilde Pedersen Mads Thomassen Torben A Kruse Uffe Birk Jensen Maria A Caligo Eitan Friedman Jamal Zidan Yael Laitman Annika Lindblom Beatrice Melin Brita Arver Niklas Loman Richard Rosenquist Olufunmilayo I Olopade Robert L Nussbaum Susan J Ramus Katherine L Nathanson Susan M Domchek Timothy R Rebbeck Banu K Arun Gillian Mitchell Beth Y Karlan Jenny Lester Sandra Orsulic Dominique Stoppa-Lyonnet Gilles Thomas Jacques Simard Fergus J Couch Kenneth Offit Douglas F Easton Georgia Chenevix-Trench Antonis C Antoniou Sylvie Mazoyer Catherine M Phelan Olga M Sinilnikova David G Cox

Breast Cancer Res 2015 Apr 25;17:61. Epub 2015 Apr 25.

INSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478717PMC
April 2015

Germline mutation in BRCA1 or BRCA2 and ten-year survival for women diagnosed with epithelial ovarian cancer.

Clin Cancer Res 2015 Feb 14;21(3):652-7. Epub 2014 Nov 14.

Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, United Kingdom.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4338615PMC
February 2015

Identification of six new susceptibility loci for invasive epithelial ovarian cancer.

Authors:
Karoline B Kuchenbaecker Susan J Ramus Jonathan Tyrer Andrew Lee Howard C Shen Jonathan Beesley Kate Lawrenson Lesley McGuffog Sue Healey Janet M Lee Tassja J Spindler Yvonne G Lin Tanja Pejovic Yukie Bean Qiyuan Li Simon Coetzee Dennis Hazelett Alexander Miron Melissa Southey Mary Beth Terry David E Goldgar Saundra S Buys Ramunas Janavicius Cecilia M Dorfling Elizabeth J van Rensburg Susan L Neuhausen Yuan Chun Ding Thomas V O Hansen Lars Jønson Anne-Marie Gerdes Bent Ejlertsen Daniel Barrowdale Joe Dennis Javier Benitez Ana Osorio Maria Jose Garcia Ian Komenaka Jeffrey N Weitzel Pamela Ganschow Paolo Peterlongo Loris Bernard Alessandra Viel Bernardo Bonanni Bernard Peissel Siranoush Manoukian Paolo Radice Laura Papi Laura Ottini Florentia Fostira Irene Konstantopoulou Judy Garber Debra Frost Jo Perkins Radka Platte Steve Ellis Andrew K Godwin Rita Katharina Schmutzler Alfons Meindl Christoph Engel Christian Sutter Olga M Sinilnikova Francesca Damiola Sylvie Mazoyer Dominique Stoppa-Lyonnet Kathleen Claes Kim De Leeneer Judy Kirk Gustavo C Rodriguez Marion Piedmonte David M O'Malley Miguel de la Hoya Trinidad Caldes Kristiina Aittomäki Heli Nevanlinna J Margriet Collée Matti A Rookus Jan C Oosterwijk Laima Tihomirova Nadine Tung Ute Hamann Claudine Isaccs Marc Tischkowitz Evgeny N Imyanitov Maria A Caligo Ian G Campbell Frans B L Hogervorst Edith Olah Orland Diez Ignacio Blanco Joan Brunet Conxi Lazaro Miquel Angel Pujana Anna Jakubowska Jacek Gronwald Jan Lubinski Grzegorz Sukiennicki Rosa B Barkardottir Marie Plante Jacques Simard Penny Soucy Marco Montagna Silvia Tognazzo Manuel R Teixeira Vernon S Pankratz Xianshu Wang Noralane Lindor Csilla I Szabo Noah Kauff Joseph Vijai Carol A Aghajanian Georg Pfeiler Andreas Berger Christian F Singer Muy-Kheng Tea Catherine M Phelan Mark H Greene Phuong L Mai Gad Rennert Anna Marie Mulligan Sandrine Tchatchou Irene L Andrulis Gord Glendon Amanda Ewart Toland Uffe Birk Jensen Torben A Kruse Mads Thomassen Anders Bojesen Jamal Zidan Eitan Friedman Yael Laitman Maria Soller Annelie Liljegren Brita Arver Zakaria Einbeigi Marie Stenmark-Askmalm Olufunmilayo I Olopade Robert L Nussbaum Timothy R Rebbeck Katherine L Nathanson Susan M Domchek Karen H Lu Beth Y Karlan Christine Walsh Jenny Lester Alexander Hein Arif B Ekici Matthias W Beckmann Peter A Fasching Diether Lambrechts Els Van Nieuwenhuysen Ignace Vergote Sandrina Lambrechts Ed Dicks Jennifer A Doherty Kristine G Wicklund Mary Anne Rossing Anja Rudolph Jenny Chang-Claude Shan Wang-Gohrke Ursula Eilber Kirsten B Moysich Kunle Odunsi Lara Sucheston Shashi Lele Lynne R Wilkens Marc T Goodman Pamela J Thompson Yurii B Shvetsov Ingo B Runnebaum Matthias Dürst Peter Hillemanns Thilo Dörk Natalia Antonenkova Natalia Bogdanova Arto Leminen Liisa M Pelttari Ralf Butzow Francesmary Modugno Joseph L Kelley Robert P Edwards Roberta B Ness Andreas du Bois Florian Heitz Ira Schwaab Philipp Harter Keitaro Matsuo Satoyo Hosono Sandra Orsulic Allan Jensen Susanne Kruger Kjaer Estrid Hogdall Hanis Nazihah Hasmad Mat Adenan Noor Azmi Soo-Hwang Teo Yin-Ling Woo Brooke L Fridley Ellen L Goode Julie M Cunningham Robert A Vierkant Fiona Bruinsma Graham G Giles Dong Liang Michelle A T Hildebrandt Xifeng Wu Douglas A Levine Maria Bisogna Andrew Berchuck Edwin S Iversen Joellen M Schildkraut Patrick Concannon Rachel Palmieri Weber Daniel W Cramer Kathryn L Terry Elizabeth M Poole Shelley S Tworoger Elisa V Bandera Irene Orlow Sara H Olson Camilla Krakstad Helga B Salvesen Ingvild L Tangen Line Bjorge Anne M van Altena Katja K H Aben Lambertus A Kiemeney Leon F A G Massuger Melissa Kellar Angela Brooks-Wilson Linda E Kelemen Linda S Cook Nhu D Le Cezary Cybulski Hannah Yang Jolanta Lissowska Louise A Brinton Nicolas Wentzensen Claus Hogdall Lene Lundvall Lotte Nedergaard Helen Baker Honglin Song Diana Eccles Ian McNeish James Paul Karen Carty Nadeem Siddiqui Rosalind Glasspool Alice S Whittemore Joseph H Rothstein Valerie McGuire Weiva Sieh Bu-Tian Ji Wei Zheng Xiao-Ou Shu Yu-Tang Gao Barry Rosen Harvey A Risch John R McLaughlin Steven A Narod Alvaro N Monteiro Ann Chen Hui-Yi Lin Jenny Permuth-Wey Thomas A Sellers Ya-Yu Tsai Zhihua Chen Argyrios Ziogas Hoda Anton-Culver Aleksandra Gentry-Maharaj Usha Menon Patricia Harrington Alice W Lee Anna H Wu Celeste L Pearce Gerry Coetzee Malcolm C Pike Agnieszka Dansonka-Mieszkowska Agnieszka Timorek Iwona K Rzepecka Jolanta Kupryjanczyk Matt Freedman Houtan Noushmehr Douglas F Easton Kenneth Offit Fergus J Couch Simon Gayther Paul P Pharoah Antonis C Antoniou Georgia Chenevix-Trench

Nat Genet 2015 Feb 12;47(2):164-71. Epub 2015 Jan 12.

Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4445140PMC
February 2015

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.

Authors:
Paolo Peterlongo Jenny Chang-Claude Kirsten B Moysich Anja Rudolph Rita K Schmutzler Jacques Simard Penny Soucy Rosalind A Eeles Douglas F Easton Ute Hamann Stefan Wilkening Bowang Chen Matti A Rookus Marjanka K Schmidt Frederieke H van der Baan Amanda B Spurdle Logan C Walker Felicity Lose Ana-Teresa Maia Marco Montagna Laura Matricardi Jan Lubinski Anna Jakubowska Encarna B Gómez Garcia Olufunmilayo I Olopade Robert L Nussbaum Katherine L Nathanson Susan M Domchek Timothy R Rebbeck Banu K Arun Beth Y Karlan Sandra Orsulic Jenny Lester Wendy K Chung Alex Miron Melissa C Southey David E Goldgar Saundra S Buys Ramunas Janavicius Cecilia M Dorfling Elizabeth J van Rensburg Yuan Chun Ding Susan L Neuhausen Thomas V O Hansen Anne-Marie Gerdes Bent Ejlertsen Lars Jønson Ana Osorio Cristina Martínez-Bouzas Javier Benitez Edye E Conway Kathleen R Blazer Jeffrey N Weitzel Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Giulietta Scuvera Monica Barile Filomena Ficarazzi Frederique Mariette Stefano Fortuzzi Alessandra Viel Giuseppe Giannini Laura Papi Aline Martayan Maria Grazia Tibiletti Paolo Radice Athanassios Vratimos Florentia Fostira Judy E Garber Alan Donaldson Carole Brewer Claire Foo D Gareth R Evans Debra Frost Diana Eccles Angela Brady Jackie Cook Marc Tischkowitz Julian Adlard Julian Barwell Lisa Walker Louise Izatt Lucy E Side M John Kennedy Mark T Rogers Mary E Porteous Patrick J Morrison Radka Platte Rosemarie Davidson Shirley V Hodgson Steve Ellis Trevor Cole Andrew K Godwin Kathleen Claes Tom Van Maerken Alfons Meindl Andrea Gehrig Christian Sutter Christoph Engel Dieter Niederacher Doris Steinemann Hansjoerg Plendl Karin Kast Kerstin Rhiem Nina Ditsch Norbert Arnold Raymonda Varon-Mateeva Barbara Wappenschmidt Shan Wang-Gohrke Brigitte Bressac-de Paillerets Bruno Buecher Capucine Delnatte Claude Houdayer Dominique Stoppa-Lyonnet Francesca Damiola Isabelle Coupier Laure Barjhoux Laurence Venat-Bouvet Lisa Golmard Nadia Boutry-Kryza Olga M Sinilnikova Olivier Caron Pascal Pujol Sylvie Mazoyer Muriel Belotti Marion Piedmonte Michael L Friedlander Gustavo C Rodriguez Larry J Copeland Miguel de la Hoya Pedro Perez Segura Heli Nevanlinna Kristiina Aittomäki Theo A M van Os Hanne E J Meijers-Heijboer Annemarie H van der Hout Maaike P G Vreeswijk Nicoline Hoogerbrugge Margreet G E M Ausems Helena C van Doorn J Margriet Collée Edith Olah Orland Diez Ignacio Blanco Conxi Lazaro Joan Brunet Lidia Feliubadalo Cezary Cybulski Jacek Gronwald Katarzyna Durda Katarzyna Jaworska-Bieniek Grzegorz Sukiennicki Adalgeir Arason Jocelyne Chiquette Manuel R Teixeira Curtis Olswold Fergus J Couch Noralane M Lindor Xianshu Wang Csilla I Szabo Kenneth Offit Marina Corines Lauren Jacobs Mark E Robson Liying Zhang Vijai Joseph Andreas Berger Christian F Singer Christine Rappaport Daphne Geschwantler Kaulich Georg Pfeiler Muy-Kheng M Tea Catherine M Phelan Mark H Greene Phuong L Mai Gad Rennert Anna Marie Mulligan Gord Glendon Sandrine Tchatchou Irene L Andrulis Amanda Ewart Toland Anders Bojesen Inge Sokilde Pedersen Mads Thomassen Uffe Birk Jensen Yael Laitman Johanna Rantala Anna von Wachenfeldt Hans Ehrencrona Marie Stenmark Askmalm Åke Borg Karoline B Kuchenbaecker Lesley McGuffog Daniel Barrowdale Sue Healey Andrew Lee Paul D P Pharoah Georgia Chenevix-Trench Antonis C Antoniou Eitan Friedman

Cancer Epidemiol Biomarkers Prev 2015 Jan 21;24(1):308-16. Epub 2014 Oct 21.

Sheba Medical Center, Tel Aviv, Israel.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4294951PMC
January 2015

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers.

Authors:
Karoline B Kuchenbaecker Susan L Neuhausen Mark Robson Daniel Barrowdale Lesley McGuffog Anna Marie Mulligan Irene L Andrulis Amanda B Spurdle Marjanka K Schmidt Rita K Schmutzler Christoph Engel Barbara Wappenschmidt Heli Nevanlinna Mads Thomassen Melissa Southey Paolo Radice Susan J Ramus Susan M Domchek Katherine L Nathanson Andrew Lee Sue Healey Robert L Nussbaum Timothy R Rebbeck Banu K Arun Paul James Beth Y Karlan Jenny Lester Ilana Cass Mary Beth Terry Mary B Daly David E Goldgar Saundra S Buys Ramunas Janavicius Laima Tihomirova Nadine Tung Cecilia M Dorfling Elizabeth J van Rensburg Linda Steele Thomas v O Hansen Bent Ejlertsen Anne-Marie Gerdes Finn C Nielsen Joe Dennis Julie Cunningham Steven Hart Susan Slager Ana Osorio Javier Benitez Mercedes Duran Jeffrey N Weitzel Isaac Tafur Mary Hander Paolo Peterlongo Siranoush Manoukian Bernard Peissel Gaia Roversi Giulietta Scuvera Bernardo Bonanni Paolo Mariani Sara Volorio Riccardo Dolcetti Liliana Varesco Laura Papi Maria Grazia Tibiletti Giuseppe Giannini Florentia Fostira Irene Konstantopoulou Judy Garber Ute Hamann Alan Donaldson Carole Brewer Claire Foo D Gareth Evans Debra Frost Diana Eccles Fiona Douglas Angela Brady Jackie Cook Marc Tischkowitz Julian Adlard Julian Barwell Kai-ren Ong Lisa Walker Louise Izatt Lucy E Side M John Kennedy Mark T Rogers Mary E Porteous Patrick J Morrison Radka Platte Ros Eeles Rosemarie Davidson Shirley Hodgson Steve Ellis Andrew K Godwin Kerstin Rhiem Alfons Meindl Nina Ditsch Norbert Arnold Hansjoerg Plendl Dieter Niederacher Christian Sutter Doris Steinemann Nadja Bogdanova-Markov Karin Kast Raymonda Varon-Mateeva Shan Wang-Gohrke Andrea Gehrig Birgid Markiefka Bruno Buecher Cédrick Lefol Dominique Stoppa-Lyonnet Etienne Rouleau Fabienne Prieur Francesca Damiola Laure Barjhoux Laurence Faivre Michel Longy Nicolas Sevenet Olga M Sinilnikova Sylvie Mazoyer Valérie Bonadona Virginie Caux-Moncoutier Claudine Isaacs Tom Van Maerken Kathleen Claes Marion Piedmonte Lesley Andrews John Hays Gustavo C Rodriguez Trinidad Caldes Miguel de la Hoya Sofia Khan Frans B L Hogervorst Cora M Aalfs J L de Lange Hanne E J Meijers-Heijboer Annemarie H van der Hout Juul T Wijnen K E P van Roozendaal Arjen R Mensenkamp Ans M W van den Ouweland Carolien H M van Deurzen Rob B van der Luijt Edith Olah Orland Diez Conxi Lazaro Ignacio Blanco Alex Teulé Mireia Menendez Anna Jakubowska Jan Lubinski Cezary Cybulski Jacek Gronwald Katarzyna Jaworska-Bieniek Katarzyna Durda Adalgeir Arason Christine Maugard Penny Soucy Marco Montagna Simona Agata Manuel R Teixeira Curtis Olswold Noralane Lindor Vernon S Pankratz Emily Hallberg Xianshu Wang Csilla I Szabo Joseph Vijai Lauren Jacobs Marina Corines Anne Lincoln Andreas Berger Anneliese Fink-Retter Christian F Singer Christine Rappaport Daphne Gschwantler Kaulich Georg Pfeiler Muy-Kheng Tea Catherine M Phelan Phuong L Mai Mark H Greene Gad Rennert Evgeny N Imyanitov Gord Glendon Amanda Ewart Toland Anders Bojesen Inge Sokilde Pedersen Uffe Birk Jensen Maria A Caligo Eitan Friedman Raanan Berger Yael Laitman Johanna Rantala Brita Arver Niklas Loman Ake Borg Hans Ehrencrona Olufunmilayo I Olopade Jacques Simard Douglas F Easton Georgia Chenevix-Trench Kenneth Offit Fergus J Couch Antonis C Antoniou

Breast Cancer Res 2014 Dec 31;16(6):3416. Epub 2014 Dec 31.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4406179PMC
December 2014

Breast-cancer risk in families with mutations in PALB2.

N Engl J Med 2014 10;371(17):1651-2

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October 2014

Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study.

Authors:
Elizabeth K Bancroft Elizabeth C Page Elena Castro Hans Lilja Andrew Vickers Daniel Sjoberg Melissa Assel Christopher S Foster Gillian Mitchell Kate Drew Lovise Mæhle Karol Axcrona D Gareth Evans Barbara Bulman Diana Eccles Donna McBride Christi van Asperen Hans Vasen Lambertus A Kiemeney Janneke Ringelberg Cezary Cybulski Dominika Wokolorczyk Christina Selkirk Peter J Hulick Anders Bojesen Anne-Bine Skytte Jimmy Lam Louise Taylor Rogier Oldenburg Ruben Cremers Gerald Verhaegh Wendy A van Zelst-Stams Jan C Oosterwijk Ignacio Blanco Monica Salinas Jackie Cook Derek J Rosario Saundra Buys Tom Conner Margreet G Ausems Kai-ren Ong Jonathan Hoffman Susan Domchek Jacquelyn Powers Manuel R Teixeira Sofia Maia William D Foulkes Nassim Taherian Marielle Ruijs Apollonia T Helderman-van den Enden Louise Izatt Rosemarie Davidson Muriel A Adank Lisa Walker Rita Schmutzler Kathy Tucker Judy Kirk Shirley Hodgson Marion Harris Fiona Douglas Geoffrey J Lindeman Janez Zgajnar Marc Tischkowitz Virginia E Clowes Rachel Susman Teresa Ramón y Cajal Nicholas Patcher Neus Gadea Allan Spigelman Theo van Os Annelie Liljegren Lucy Side Carole Brewer Angela F Brady Alan Donaldson Vigdis Stefansdottir Eitan Friedman Rakefet Chen-Shtoyerman David J Amor Lucia Copakova Julian Barwell Veda N Giri Vedang Murthy Nicola Nicolai Soo-Hwang Teo Lynn Greenhalgh Sara Strom Alex Henderson John McGrath David Gallagher Neil Aaronson Audrey Ardern-Jones Chris Bangma David Dearnaley Philandra Costello Jorunn Eyfjord Jeanette Rothwell Alison Falconer Henrik Gronberg Freddie C Hamdy Oskar Johannsson Vincent Khoo Zsofia Kote-Jarai Jan Lubinski Ulrika Axcrona Jane Melia Joanne McKinley Anita V Mitra Clare Moynihan Gad Rennert Mohnish Suri Penny Wilson Emma Killick Sue Moss Rosalind A Eeles

Eur Urol 2014 Sep 15;66(3):489-99. Epub 2014 Jan 15.

Oncogenetics Team, Institute of Cancer Research, London, UK; Cancer Genetics Unit and Academic Urology Unit, Royal Marsden NHS Foundation Trust, London, UK. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4105321PMC
September 2014

Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada.

Hered Cancer Clin Pract 2014 28;12(1):19. Epub 2014 Aug 28.

Program in Cancer Genetics, Departments of Oncology and Human Genetics, Gerald Bronfman Centre for Clinical Research in Oncology, McGill University, Montreal, QC, Canada ; Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, McGill University, Montreal, QC, Canada ; Department of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4163678PMC
September 2014

Breast-cancer risk in families with mutations in PALB2.

N Engl J Med 2014 Aug;371(6):497-506

From the Departments of Public Health and Primary Care (A.C.A., D.B., A.L., D.F.E.) and Oncology (D.F.E.), Centre for Cancer Genetic Epidemiology, Department of Oncology (D.F.E.), and Department of Medical Genetics and National Institute for Health Research Cambridge Biomedical Research Centre (M.T.), University of Cambridge, and the Department of Clinical Genetics, East Anglian Regional Genetics Service, Addenbrooke's Hospital (J.R., D.S., M.T.), Cambridge, and the Oncogenetics Team, Institute of Cancer Research and Royal Marsden National Health Service Foundation Trust, London (C.T., S.S., N.R.) - all in the United Kingdom; the Division of Medical Genetics, Department of Medicine, University of Washington, Seattle (S.C., M.-C.K.); the Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital (T.H., S.K., H.N.), and the Department of Clinical Genetics, Helsinki University Central Hospital (K.A.), Helsinki, the Laboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu, University of Oulu, and the Laboratory of Cancer Genetics and Tumor Biology, Northern Finland Laboratory Center NordLab, Oulu University Hospital (K.P., R.W.), and the Department of Clinical Genetics, University of Oulu and Oulu University Hospital (J.S.M.), Oulu, Biocenter Kuopio and Cancer Center of Eastern Finland, University of Eastern Finland, Kuopio (A.M.), and the Institute of Biomedical Technology-Cancer Genomics, University of Tampere, Tampere (A.K.) - all in Finland; the Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium (K.D.L., B.P., K.B.M.C.); the Molecular Diagnostics Laboratory, Institute of Nuclear and Radiologic Sciences and Technology, Energy and Safety, National Center for Scientific Research Demokritos, Athens (F.F., D.Y.); the Department of Genetics, Eastern Ontario Regional Genetics Program, Children's Hospital of Eastern Ontario, Ottawa (E.T.), Samuel Lunenfeld Research

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157599PMC
August 2014

Lymphocyte telomere length is long in BRCA1 and BRCA2 mutation carriers regardless of cancer-affected status.

Cancer Epidemiol Biomarkers Prev 2014 Jun 18;23(6):1018-24. Epub 2014 Mar 18.

Authors' Affiliations: Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care; Centre for Cancer Genetic Epidemiology, Department of Oncology, Strangeways Research Laboratory, University of Cambridge; Department of Epigenetics, Babraham Institute, Babraham Research Campus; Department of Medical Genetics, University of Cambridge, Cambridge; South East Thames Regional Genetics Service, Guy's Hospital; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust; Clinical Genetics Department, St. Georges Hospital, University of London, London; Yorkshire Regional Genetics Service, Leeds; Leicestershire Clinical Genetics Service, University Hospitals of Leicester NHS Trust; Department of Clinical Genetics, Royal Devon & Exeter Hospital, Exeter; West Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare NHS Trust, Edgbaston, Birmingham;Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield; Ferguson-Smith Centre for Clinical Genetics, Yorkhill Hospitals, Glasgow; South West Regional Genetics Service, Bristol; North West Thames Regional Genetics Service, Kennedy-Galton Centre, Harrow; Institute of Human Genetics, Centre for Life, Newcastle Upon Tyne Hospitals NHS Trust, Newcastle upon Tyne; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust; Cheshire & Merseyside Clinical Genetics Service, Liverpool Women's NHS Foundation Trust, Liverpool; All Wales Medical Genetics Service, Glan Clwyd Hospital, Rhyl; North of Scotland Regional Genetics Service, NHS Grampian & University of Aberdeen, Foresterhill, Aberdeen; All Wales Medical Genetics Services, Singleton Hospital, Swansea; South East of Scotland Regional Genetics Service, Western General Hospital, Edinburgh; All Wales Medical Genetics Services, University Hospital of Wales, Cardiff; Oxford Regional Genetics Service, Churchill Hospital, Oxford; Wessex Clinical Genetics Service, Princess A

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266102PMC
June 2014

Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.

Nat Genet 2014 May 23;46(5):438-43. Epub 2014 Mar 23.

1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Medical Genetics, Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital, McGill University, Montreal, Quebec, Canada. [3] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [4] Department of Medical Genetics, Research Institute, McGill University Health Centre, Montreal, Quebec, Canada.

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May 2014

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers.

Authors:
Ana Osorio Roger L Milne Karoline Kuchenbaecker Tereza Vaclová Guillermo Pita Rosario Alonso Paolo Peterlongo Ignacio Blanco Miguel de la Hoya Mercedes Duran Orland Díez Teresa Ramón Y Cajal Irene Konstantopoulou Cristina Martínez-Bouzas Raquel Andrés Conejero Penny Soucy Lesley McGuffog Daniel Barrowdale Andrew Lee Swe-Brca Brita Arver Johanna Rantala Niklas Loman Hans Ehrencrona Olufunmilayo I Olopade Mary S Beattie Susan M Domchek Katherine Nathanson Timothy R Rebbeck Banu K Arun Beth Y Karlan Christine Walsh Jenny Lester Esther M John Alice S Whittemore Mary B Daly Melissa Southey John Hopper Mary B Terry Saundra S Buys Ramunas Janavicius Cecilia M Dorfling Elizabeth J van Rensburg Linda Steele Susan L Neuhausen Yuan Chun Ding Thomas V O Hansen Lars Jønson Bent Ejlertsen Anne-Marie Gerdes Mar Infante Belén Herráez Leticia Thais Moreno Jeffrey N Weitzel Josef Herzog Kisa Weeman Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Giulietta Scuvera Bernardo Bonanni Frederique Mariette Sara Volorio Alessandra Viel Liliana Varesco Laura Papi Laura Ottini Maria Grazia Tibiletti Paolo Radice Drakoulis Yannoukakos Judy Garber Steve Ellis Debra Frost Radka Platte Elena Fineberg Gareth Evans Fiona Lalloo Louise Izatt Ros Eeles Julian Adlard Rosemarie Davidson Trevor Cole Diana Eccles Jackie Cook Shirley Hodgson Carole Brewer Marc Tischkowitz Fiona Douglas Mary Porteous Lucy Side Lisa Walker Patrick Morrison Alan Donaldson John Kennedy Claire Foo Andrew K Godwin Rita Katharina Schmutzler Barbara Wappenschmidt Kerstin Rhiem Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Hans Jörg Plendl Dieter Niederacher Christian Sutter Shan Wang-Gohrke Doris Steinemann Sabine Preisler-Adams Karin Kast Raymonda Varon-Mateeva Andrea Gehrig Dominique Stoppa-Lyonnet Olga M Sinilnikova Sylvie Mazoyer Francesca Damiola Bruce Poppe Kathleen Claes Marion Piedmonte Kathy Tucker Floor Backes Gustavo Rodríguez Wendy Brewster Katie Wakeley Thomas Rutherford Trinidad Caldés Heli Nevanlinna Kristiina Aittomäki Matti A Rookus Theo A M van Os Lizet van der Kolk J L de Lange Hanne E J Meijers-Heijboer A H van der Hout Christi J van Asperen Encarna B Gómez Garcia Nicoline Hoogerbrugge J Margriet Collée Carolien H M van Deurzen Rob B van der Luijt Peter Devilee Hebon Edith Olah Conxi Lázaro Alex Teulé Mireia Menéndez Anna Jakubowska Cezary Cybulski Jacek Gronwald Jan Lubinski Katarzyna Durda Katarzyna Jaworska-Bieniek Oskar Th Johannsson Christine Maugard Marco Montagna Silvia Tognazzo Manuel R Teixeira Sue Healey Kconfab Investigators Curtis Olswold Lucia Guidugli Noralane Lindor Susan Slager Csilla I Szabo Joseph Vijai Mark Robson Noah Kauff Liying Zhang Rohini Rau-Murthy Anneliese Fink-Retter Christian F Singer Christine Rappaport Daphne Geschwantler Kaulich Georg Pfeiler Muy-Kheng Tea Andreas Berger Catherine M Phelan Mark H Greene Phuong L Mai Flavio Lejbkowicz Irene Andrulis Anna Marie Mulligan Gord Glendon Amanda Ewart Toland Anders Bojesen Inge Sokilde Pedersen Lone Sunde Mads Thomassen Torben A Kruse Uffe Birk Jensen Eitan Friedman Yael Laitman Shani Paluch Shimon Jacques Simard Douglas F Easton Kenneth Offit Fergus J Couch Georgia Chenevix-Trench Antonis C Antoniou Javier Benitez

PLoS Genet 2014 Apr 3;10(4):e1004256. Epub 2014 Apr 3.

Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain; Biomedical Network on Rare Diseases (CIBERER), Madrid, Spain; Genotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3974638PMC
April 2014

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk.

Authors:
Mia M Gaudet Karoline B Kuchenbaecker Joseph Vijai Robert J Klein Tomas Kirchhoff Lesley McGuffog Daniel Barrowdale Alison M Dunning Andrew Lee Joe Dennis Sue Healey Ed Dicks Penny Soucy Olga M Sinilnikova Vernon S Pankratz Xianshu Wang Ronald C Eldridge Daniel C Tessier Daniel Vincent Francois Bacot Frans B L Hogervorst Susan Peock Dominique Stoppa-Lyonnet Paolo Peterlongo Rita K Schmutzler Katherine L Nathanson Marion Piedmonte Christian F Singer Mads Thomassen Thomas v O Hansen Susan L Neuhausen Ignacio Blanco Mark H Greene Judith Garber Jeffrey N Weitzel Irene L Andrulis David E Goldgar Emma D'Andrea Trinidad Caldes Heli Nevanlinna Ana Osorio Elizabeth J van Rensburg Adalgeir Arason Gad Rennert Ans M W van den Ouweland Annemarie H van der Hout Carolien M Kets Cora M Aalfs Juul T Wijnen Margreet G E M Ausems Debra Frost Steve Ellis Elena Fineberg Radka Platte D Gareth Evans Chris Jacobs Julian Adlard Marc Tischkowitz Mary E Porteous Francesca Damiola Lisa Golmard Laure Barjhoux Michel Longy Muriel Belotti Sandra Fert Ferrer Sylvie Mazoyer Amanda B Spurdle Siranoush Manoukian Monica Barile Maurizio Genuardi Norbert Arnold Alfons Meindl Christian Sutter Barbara Wappenschmidt Susan M Domchek Georg Pfeiler Eitan Friedman Uffe Birk Jensen Mark Robson Sohela Shah Conxi Lazaro Phuong L Mai Javier Benitez Melissa C Southey Marjanka K Schmidt Peter A Fasching Julian Peto Manjeet K Humphreys Qin Wang Kyriaki Michailidou Elinor J Sawyer Barbara Burwinkel Pascal Guénel Stig E Bojesen Roger L Milne Hermann Brenner Magdalena Lochmann Kristiina Aittomäki Thilo Dörk Sara Margolin Arto Mannermaa Diether Lambrechts Jenny Chang-Claude Paolo Radice Graham G Giles Christopher A Haiman Robert Winqvist Peter Devillee Montserrat García-Closas Nils Schoof Maartje J Hooning Angela Cox Paul D P Pharoah Anna Jakubowska Nick Orr Anna González-Neira Guillermo Pita M Rosario Alonso Per Hall Fergus J Couch Jacques Simard David Altshuler Douglas F Easton Georgia Chenevix-Trench Antonis C Antoniou Kenneth Offit

PLoS Genet 2013 27;9(3):e1003173. Epub 2013 Mar 27.

Epidemiology Research Program, American Cancer Society, Atlanta, Georgia, USA.

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http://dx.plos.org/10.1371/journal.pgen.1003173
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3609647PMC
June 2013

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.

Authors:
Fergus J Couch Xianshu Wang Lesley McGuffog Andrew Lee Curtis Olswold Karoline B Kuchenbaecker Penny Soucy Zachary Fredericksen Daniel Barrowdale Joe Dennis Mia M Gaudet Ed Dicks Matthew Kosel Sue Healey Olga M Sinilnikova Adam Lee François Bacot Daniel Vincent Frans B L Hogervorst Susan Peock Dominique Stoppa-Lyonnet Anna Jakubowska Paolo Radice Rita Katharina Schmutzler Susan M Domchek Marion Piedmonte Christian F Singer Eitan Friedman Mads Thomassen Thomas V O Hansen Susan L Neuhausen Csilla I Szabo Ignacio Blanco Mark H Greene Beth Y Karlan Judy Garber Catherine M Phelan Jeffrey N Weitzel Marco Montagna Edith Olah Irene L Andrulis Andrew K Godwin Drakoulis Yannoukakos David E Goldgar Trinidad Caldes Heli Nevanlinna Ana Osorio Mary Beth Terry Mary B Daly Elizabeth J van Rensburg Ute Hamann Susan J Ramus Amanda Ewart Toland Maria A Caligo Olufunmilayo I Olopade Nadine Tung Kathleen Claes Mary S Beattie Melissa C Southey Evgeny N Imyanitov Marc Tischkowitz Ramunas Janavicius Esther M John Ava Kwong Orland Diez Judith Balmaña Rosa B Barkardottir Banu K Arun Gad Rennert Soo-Hwang Teo Patricia A Ganz Ian Campbell Annemarie H van der Hout Carolien H M van Deurzen Caroline Seynaeve Encarna B Gómez Garcia Flora E van Leeuwen Hanne E J Meijers-Heijboer Johannes J P Gille Margreet G E M Ausems Marinus J Blok Marjolijn J L Ligtenberg Matti A Rookus Peter Devilee Senno Verhoef Theo A M van Os Juul T Wijnen Debra Frost Steve Ellis Elena Fineberg Radka Platte D Gareth Evans Louise Izatt Rosalind A Eeles Julian Adlard Diana M Eccles Jackie Cook Carole Brewer Fiona Douglas Shirley Hodgson Patrick J Morrison Lucy E Side Alan Donaldson Catherine Houghton Mark T Rogers Huw Dorkins Jacqueline Eason Helen Gregory Emma McCann Alex Murray Alain Calender Agnès Hardouin Pascaline Berthet Capucine Delnatte Catherine Nogues Christine Lasset Claude Houdayer Dominique Leroux Etienne Rouleau Fabienne Prieur Francesca Damiola Hagay Sobol Isabelle Coupier Laurence Venat-Bouvet Laurent Castera Marion Gauthier-Villars Mélanie Léoné Pascal Pujol Sylvie Mazoyer Yves-Jean Bignon Elżbieta Złowocka-Perłowska Jacek Gronwald Jan Lubinski Katarzyna Durda Katarzyna Jaworska Tomasz Huzarski Amanda B Spurdle Alessandra Viel Bernard Peissel Bernardo Bonanni Giulia Melloni Laura Ottini Laura Papi Liliana Varesco Maria Grazia Tibiletti Paolo Peterlongo Sara Volorio Siranoush Manoukian Valeria Pensotti Norbert Arnold Christoph Engel Helmut Deissler Dorothea Gadzicki Andrea Gehrig Karin Kast Kerstin Rhiem Alfons Meindl Dieter Niederacher Nina Ditsch Hansjoerg Plendl Sabine Preisler-Adams Stefanie Engert Christian Sutter Raymonda Varon-Mateeva Barbara Wappenschmidt Bernhard H F Weber Brita Arver Marie Stenmark-Askmalm Niklas Loman Richard Rosenquist Zakaria Einbeigi Katherine L Nathanson Timothy R Rebbeck Stephanie V Blank David E Cohn Gustavo C Rodriguez Laurie Small Michael Friedlander Victoria L Bae-Jump Anneliese Fink-Retter Christine Rappaport Daphne Gschwantler-Kaulich Georg Pfeiler Muy-Kheng Tea Noralane M Lindor Bella Kaufman Shani Shimon Paluch Yael Laitman Anne-Bine Skytte Anne-Marie Gerdes Inge Sokilde Pedersen Sanne Traasdahl Moeller Torben A Kruse Uffe Birk Jensen Joseph Vijai Kara Sarrel Mark Robson Noah Kauff Anna Marie Mulligan Gord Glendon Hilmi Ozcelik Bent Ejlertsen Finn C Nielsen Lars Jønson Mette K Andersen Yuan Chun Ding Linda Steele Lenka Foretova Alex Teulé Conxi Lazaro Joan Brunet Miquel Angel Pujana Phuong L Mai Jennifer T Loud Christine Walsh Jenny Lester Sandra Orsulic Steven A Narod Josef Herzog Sharon R Sand Silvia Tognazzo Simona Agata Tibor Vaszko Joellen Weaver Alexandra V Stavropoulou Saundra S Buys Atocha Romero Miguel de la Hoya Kristiina Aittomäki Taru A Muranen Mercedes Duran Wendy K Chung Adriana Lasa Cecilia M Dorfling Alexander Miron Javier Benitez Leigha Senter Dezheng Huo Salina B Chan Anna P Sokolenko Jocelyne Chiquette Laima Tihomirova Tara M Friebel Bjarni A Agnarsson Karen H Lu Flavio Lejbkowicz Paul A James Per Hall Alison M Dunning Daniel Tessier Julie Cunningham Susan L Slager Chen Wang Steven Hart Kristen Stevens Jacques Simard Tomi Pastinen Vernon S Pankratz Kenneth Offit Douglas F Easton Georgia Chenevix-Trench Antonis C Antoniou

PLoS Genet 2013 27;9(3):e1003212. Epub 2013 Mar 27.

Department of Laboratory Medicine and Pathology, and Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3609646PMC
June 2013

Heterozygous mutations in the PALB2 hereditary breast cancer predisposition gene impact on the three-dimensional nuclear organization of patient-derived cell lines.

Genes Chromosomes Cancer 2013 May 23;52(5):480-94. Epub 2013 Jan 23.

The Genomic Centre for Cancer Research and Diagnosis, Manitoba Institute of Cell Biology, CancerCare Manitoba, University of Manitoba, Winnipeg, MB, Canada.

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May 2013

Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.

Cancer Discov 2013 Apr 26;3(4):399-405. Epub 2012 Dec 26.

Abramson Cancer Center, Department of Medicine, Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104-6160, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3625496PMC
April 2013

Germ-line DICER1 mutations do not make a major contribution to the etiology of familial testicular germ cell tumours.

BMC Res Notes 2013 Apr 1;6:127. Epub 2013 Apr 1.

Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, QC, Canada.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3642033PMC
April 2013

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers.

Authors:
Yuan C Ding Lesley McGuffog Sue Healey Eitan Friedman Yael Laitman Shani- Paluch-Shimon Bella Kaufman Annelie Liljegren Annika Lindblom Håkan Olsson Ulf Kristoffersson Marie Stenmark-Askmalm Beatrice Melin Susan M Domchek Katherine L Nathanson Timothy R Rebbeck Anna Jakubowska Jan Lubinski Katarzyna Jaworska Katarzyna Durda Jacek Gronwald Tomasz Huzarski Cezary Cybulski Tomasz Byrski Ana Osorio Teresa Ramóny Cajal Alexandra V Stavropoulou Javier Benítez Ute Hamann Matti Rookus Cora M Aalfs Judith L de Lange Hanne E J Meijers-Heijboer Jan C Oosterwijk Christi J van Asperen Encarna B Gómez García Nicoline Hoogerbrugge Agnes Jager Rob B van der Luijt Douglas F Easton Susan Peock Debra Frost Steve D Ellis Radka Platte Elena Fineberg D Gareth Evans Fiona Lalloo Louise Izatt Ros Eeles Julian Adlard Rosemarie Davidson Diana Eccles Trevor Cole Jackie Cook Carole Brewer Marc Tischkowitz Andrew K Godwin Harsh Pathak Dominique Stoppa-Lyonnet Olga M Sinilnikova Sylvie Mazoyer Laure Barjhoux Mélanie Léoné Marion Gauthier-Villars Virginie Caux-Moncoutier Antoine de Pauw Agnès Hardouin Pascaline Berthet Hélène Dreyfus Sandra Fert Ferrer Marie-Agnès Collonge-Rame Johanna Sokolowska Saundra Buys Mary Daly Alex Miron Mary Beth Terry Wendy Chung Esther M John Melissa Southey David Goldgar Christian F Singer Muy-Kheng Maria Tea Daphne Gschwantler-Kaulich Anneliese Fink-Retter Thomas V O Hansen Bent Ejlertsen Oskar T Johannsson Kenneth Offit Kara Sarrel Mia M Gaudet Joseph Vijai Mark Robson Marion R Piedmonte Lesley Andrews David Cohn Leslie R DeMars Paul DiSilvestro Gustavo Rodriguez Amanda Ewart Toland Marco Montagna Simona Agata Evgeny Imyanitov Claudine Isaacs Ramunas Janavicius Conxi Lazaro Ignacio Blanco Susan J Ramus Lara Sucheston Beth Y Karlan Jenny Gross Patricia A Ganz Mary S Beattie Rita K Schmutzler Barbara Wappenschmidt Alfons Meindl Norbert Arnold Dieter Niederacher Sabine Preisler-Adams Dorotehea Gadzicki Raymonda Varon-Mateeva Helmut Deissler Andrea Gehrig Christian Sutter Karin Kast Heli Nevanlinna Kristiina Aittomäki Jacques Simard Amanda B Spurdle Jonathan Beesley Xiaoqing Chen Gail E Tomlinson Jeffrey Weitzel Judy E Garber Olufunmilayo I Olopade Wendy S Rubinstein Nadine Tung Joanne L Blum Steven A Narod Sean Brummel Daniel L Gillen Noralane Lindor Zachary Fredericksen Vernon S Pankratz Fergus J Couch Paolo Radice Paolo Peterlongo Mark H Greene Jennifer T Loud Phuong L Mai Irene L Andrulis Gord Glendon Hilmi Ozcelik Anne-Marie Gerdes Mads Thomassen Uffe Birk Jensen Anne-Bine Skytte Maria A Caligo Andrew Lee Georgia Chenevix-Trench Antonis C Antoniou Susan L Neuhausen

Cancer Epidemiol Biomarkers Prev 2012 Aug 22;21(8):1362-70. Epub 2012 Jun 22.

Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California 91010, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3415567PMC
August 2012

Alagille syndrome and Wilson disease in siblings: a diagnostic conundrum.

Can J Gastroenterol 2012 Jun;26(6):330-2

Department of Medical Genetics, Jewish General Hospital, Quebec.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3378278PMC
http://dx.doi.org/10.1155/2012/176543DOI Listing
June 2012

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.

Authors:
Fergus J Couch Mia M Gaudet Antonis C Antoniou Susan J Ramus Karoline B Kuchenbaecker Penny Soucy Jonathan Beesley Xiaoqing Chen Xianshu Wang Tomas Kirchhoff Lesley McGuffog Daniel Barrowdale Andrew Lee Sue Healey Olga M Sinilnikova Irene L Andrulis Hilmi Ozcelik Anna Marie Mulligan Mads Thomassen Anne-Marie Gerdes Uffe Birk Jensen Anne-Bine Skytte Torben A Kruse Maria A Caligo Anna von Wachenfeldt Gisela Barbany-Bustinza Niklas Loman Maria Soller Hans Ehrencrona Per Karlsson Katherine L Nathanson Timothy R Rebbeck Susan M Domchek Ania Jakubowska Jan Lubinski Katarzyna Jaworska Katarzyna Durda Elzbieta Zlowocka Tomasz Huzarski Tomasz Byrski Jacek Gronwald Cezary Cybulski Bohdan Górski Ana Osorio Mercedes Durán María Isabel Tejada Javier Benitez Ute Hamann Frans B L Hogervorst Theo A van Os Flora E van Leeuwen Hanne E J Meijers-Heijboer Juul Wijnen Marinus J Blok Marleen Kets Maartje J Hooning Rogier A Oldenburg Margreet G E M Ausems Susan Peock Debra Frost Steve D Ellis Radka Platte Elena Fineberg D Gareth Evans Chris Jacobs Rosalind A Eeles Julian Adlard Rosemarie Davidson Diana M Eccles Trevor Cole Jackie Cook Joan Paterson Carole Brewer Fiona Douglas Shirley V Hodgson Patrick J Morrison Lisa Walker Mary E Porteous M John Kennedy Lucy E Side Betsy Bove Andrew K Godwin Dominique Stoppa-Lyonnet Marion Fassy-Colcombet Laurent Castera François Cornelis Sylvie Mazoyer Mélanie Léoné Nadia Boutry-Kryza Brigitte Bressac-de Paillerets Olivier Caron Pascal Pujol Isabelle Coupier Capucine Delnatte Linda Akloul Henry T Lynch Carrie L Snyder Saundra S Buys Mary B Daly Marybeth Terry Wendy K Chung Esther M John Alexander Miron Melissa C Southey John L Hopper David E Goldgar Christian F Singer Christine Rappaport Muy-Kheng M Tea Anneliese Fink-Retter Thomas V O Hansen Finn C Nielsen Aðalgeir Arason Joseph Vijai Sohela Shah Kara Sarrel Mark E Robson Marion Piedmonte Kelly Phillips Jack Basil Wendy S Rubinstein John Boggess Katie Wakeley Amanda Ewart-Toland Marco Montagna Simona Agata Evgeny N Imyanitov Claudine Isaacs Ramunas Janavicius Conxi Lazaro Ignacio Blanco Lidia Feliubadalo Joan Brunet Simon A Gayther Paul P D Pharoah Kunle O Odunsi Beth Y Karlan Christine S Walsh Edith Olah Soo Hwang Teo Patricia A Ganz Mary S Beattie Elizabeth J van Rensburg Cecelia M Dorfling Orland Diez Ava Kwong Rita K Schmutzler Barbara Wappenschmidt Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Simone Heidemann Dieter Niederacher Sabine Preisler-Adams Dorothea Gadzicki Raymonda Varon-Mateeva Helmut Deissler Andrea Gehrig Christian Sutter Karin Kast Britta Fiebig Wolfram Heinritz Trinidad Caldes Miguel de la Hoya Taru A Muranen Heli Nevanlinna Marc D Tischkowitz Amanda B Spurdle Susan L Neuhausen Yuan Chun Ding Noralane M Lindor Zachary Fredericksen V Shane Pankratz Paolo Peterlongo Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Monica Barile Loris Bernard Alessandra Viel Giuseppe Giannini Liliana Varesco Paolo Radice Mark H Greene Phuong L Mai Douglas F Easton Georgia Chenevix-Trench Kenneth Offit Jacques Simard

Cancer Epidemiol Biomarkers Prev 2012 Apr 20;21(4):645-57. Epub 2012 Feb 20.

Departments of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1158/1055-9965.EPI-11-0888DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3319317PMC
April 2012

The BRCA2 c.9004G>A (E2002K) [corrected] variant is likely pathogenic and recurs in breast and/or ovarian cancer families of French Canadian descent.

Breast Cancer Res Treat 2012 Jan 27;131(1):333-40. Epub 2011 Sep 27.

Service de Médecine Génique, Département de Médecine, Centre Hospitalier de l'Université de Montréal, Montreal, Canada.

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http://link.springer.com/10.1007/s10549-011-1796-4
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http://dx.doi.org/10.1007/s10549-011-1796-4DOI Listing
January 2012

A survey of APC mutations in Quebec.

Fam Cancer 2011 Dec;10(4):659-65

Molecular Pathology Unit, Department of Pathology, Jewish General Hospital, McGill University, Room D-112, 3755, chemin de la Cote-Ste-Catherine, Montreal, QC H3T 1E2, Canada.

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http://link.springer.com/content/pdf/10.1007/s10689-011-9468
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http://link.springer.com/10.1007/s10689-011-9468-4
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http://dx.doi.org/10.1007/s10689-011-9468-4DOI Listing
December 2011

Acinic cell carcinoma of the retromolar trigone region: expanding the tumor phenotype in Cowden syndrome?

Fam Cancer 2011 Dec;10(4):691-4

Department of Radiation Oncology, Centre hospitalier de l'Université de Montréal, Montreal, QC, Canada.

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http://link.springer.com/10.1007/s10689-011-9472-8
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http://dx.doi.org/10.1007/s10689-011-9472-8DOI Listing
December 2011

miRNA processing and human cancer: DICER1 cuts the mustard.

Sci Transl Med 2011 Nov;3(111):111ps46

Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec H2W 1S6, Canada.

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http://dx.doi.org/10.1126/scitranslmed.3002493DOI Listing
November 2011

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers.

Authors:
Antonis C Antoniou Christiana Kartsonaki Olga M Sinilnikova Penny Soucy Lesley McGuffog Sue Healey Andrew Lee Paolo Peterlongo Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Elisa Cattaneo Monica Barile Valeria Pensotti Barbara Pasini Riccardo Dolcetti Giuseppe Giannini Anna Laura Putignano Liliana Varesco Paolo Radice Phuong L Mai Mark H Greene Irene L Andrulis Gord Glendon Hilmi Ozcelik Mads Thomassen Anne-Marie Gerdes Torben A Kruse Uffe Birk Jensen Dorthe G Crüger Maria A Caligo Yael Laitman Roni Milgrom Bella Kaufman Shani Paluch-Shimon Eitan Friedman Niklas Loman Katja Harbst Annika Lindblom Brita Arver Hans Ehrencrona Beatrice Melin Katherine L Nathanson Susan M Domchek Timothy Rebbeck Ania Jakubowska Jan Lubinski Jacek Gronwald Tomasz Huzarski Tomasz Byrski Cezary Cybulski Bohdan Gorski Ana Osorio Teresa Ramón y Cajal Florentia Fostira Raquel Andrés Javier Benitez Ute Hamann Frans B Hogervorst Matti A Rookus Maartje J Hooning Marcel R Nelen Rob B van der Luijt Theo A M van Os Christi J van Asperen Peter Devilee Hanne E J Meijers-Heijboer Encarna B Gómez Garcia Susan Peock Margaret Cook Debra Frost Radka Platte Jean Leyland D Gareth Evans Fiona Lalloo Ros Eeles Louise Izatt Julian Adlard Rosemarie Davidson Diana Eccles Kai-ren Ong Jackie Cook Fiona Douglas Joan Paterson M John Kennedy Zosia Miedzybrodzka Andrew Godwin Dominique Stoppa-Lyonnet Bruno Buecher Muriel Belotti Carole Tirapo Sylvie Mazoyer Laure Barjhoux Christine Lasset Dominique Leroux Laurence Faivre Myriam Bronner Fabienne Prieur Catherine Nogues Etienne Rouleau Pascal Pujol Isabelle Coupier Marc Frénay John L Hopper Mary B Daly Mary B Terry Esther M John Saundra S Buys Yosuf Yassin Alexander Miron David Goldgar Christian F Singer Muy-Kheng Tea Georg Pfeiler Anne Catharina Dressler Thomas v O Hansen Lars Jønson Bent Ejlertsen Rosa Bjork Barkardottir Tomas Kirchhoff Kenneth Offit Marion Piedmonte Gustavo Rodriguez Laurie Small John Boggess Stephanie Blank Jack Basil Masoud Azodi Amanda Ewart Toland Marco Montagna Silvia Tognazzo Simona Agata Evgeny Imyanitov Ramunas Janavicius Conxi Lazaro Ignacio Blanco Paul D P Pharoah Lara Sucheston Beth Y Karlan Christine S Walsh Edith Olah Aniko Bozsik Soo-Hwang Teo Joyce L Seldon Mary S Beattie Elizabeth J van Rensburg Michelle D Sluiter Orland Diez Rita K Schmutzler Barbara Wappenschmidt Christoph Engel Alfons Meindl Ina Ruehl Raymonda Varon-Mateeva Karin Kast Helmut Deissler Dieter Niederacher Norbert Arnold Dorothea Gadzicki Ines Schönbuchner Trinidad Caldes Miguel de la Hoya Heli Nevanlinna Kristiina Aittomäki Martine Dumont Jocelyne Chiquette Marc Tischkowitz Xiaoqing Chen Jonathan Beesley Amanda B Spurdle Susan L Neuhausen Yuan Chun Ding Zachary Fredericksen Xianshu Wang Vernon S Pankratz Fergus Couch Jacques Simard Douglas F Easton Georgia Chenevix-Trench

Hum Mol Genet 2011 Aug 18;20(16):3304-21. Epub 2011 May 18.

Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.

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http://dx.doi.org/10.1093/hmg/ddr226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3652640PMC
August 2011