Louise Izatt

Louise Izatt

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Louise Izatt

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Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers.

Authors:
Frank Qian Matti A Rookus Goska Leslie Harvey A Risch Mark H Greene Cora M Aalfs Muriel A Adank Julian Adlard Bjarni A Agnarsson Munaza Ahmed Kristiina Aittomäki Irene L Andrulis Norbert Arnold Banu K Arun Margreet G E M Ausems Jacopo Azzollini Daniel Barrowdale Julian Barwell Javier Benitez Katarzyna Białkowska Valérie Bonadona Julika Borde Ake Borg Angela R Bradbury Joan Brunet Saundra S Buys Trinidad Caldés Maria A Caligo Ian Campbell Jonathan Carter Jocelyne Chiquette Wendy K Chung Kathleen B M Claes J Margriet Collée Marie-Agnès Collonge-Rame Fergus J Couch Mary B Daly Capucine Delnatte Orland Diez Susan M Domchek Cecilia M Dorfling Jacqueline Eason Douglas F Easton Ros Eeles Christoph Engel D Gareth Evans Laurence Faivre Lidia Feliubadaló Lenka Foretova Eitan Friedman Debra Frost Patricia A Ganz Judy Garber Vanesa Garcia-Barberan Andrea Gehrig Gord Glendon Andrew K Godwin Encarna B Gómez Garcia Ute Hamann Jan Hauke John L Hopper Peter J Hulick Evgeny N Imyanitov Claudine Isaacs Louise Izatt Anna Jakubowska Ramunas Janavicius Esther M John Beth Y Karlan Carolien M Kets Yael Laitman Conxi Lázaro Dominique Leroux Jenny Lester Fabienne Lesueur Jennifer T Loud Jan Lubiński Alicja Łukomska Lesley McGuffog Noura Mebirouk Hanne E J Meijers-Heijboer Alfons Meindl Austin Miller Marco Montagna Thea M Mooij Emmanuelle Mouret-Fourme Katherine L Nathanson Bita Nehoray Susan L Neuhausen Heli Nevanlinna Finn C Nielsen Kenneth Offit Edith Olah Kai-Ren Ong Jan C Oosterwijk Laura Ottini Michael T Parsons Paolo Peterlongo Georg Pfeiler Nisha Pradhan Paolo Radice Susan J Ramus Johanna Rantala Gad Rennert Mark Robson Gustavo C Rodriguez Ritu Salani Maren T Scheuner Rita K Schmutzler Payal D Shah Lucy E Side Jacques Simard Christian F Singer Doris Steinemann Dominique Stoppa-Lyonnet Yen Yen Tan Manuel R Teixeira Mary Beth Terry Mads Thomassen Marc Tischkowitz Silvia Tognazzo Amanda E Toland Nadine Tung Christi J van Asperen Klaartje van Engelen Elizabeth J van Rensburg Laurence Venat-Bouvet Jeroen Vierstraete Gabriel Wagner Lisa Walker Jeffrey N Weitzel Drakoulis Yannoukakos Antonis C Antoniou David E Goldgar Olufunmilayo I Olopade Georgia Chenevix-Trench Timothy R Rebbeck Dezheng Huo

Br J Cancer 2019 Jun 19. Epub 2019 Jun 19.

Center for Clinical Cancer Genetics, The University of Chicago, Chicago, IL, USA.

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http://dx.doi.org/10.1038/s41416-019-0492-8DOI Listing
June 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

Response to Letter to the Editor: "p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer".

J Clin Endocrinol Metab 2018 09;103(9):3518-3519

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, United Kingdom.

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http://dx.doi.org/10.1210/jc.2018-01094DOI Listing
September 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

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.

Authors:
Mara Colombo Irene Lòpez-Perolio Huong D Meeks Laura Caleca Michael T Parsons Hongyan Li Giovanna De Vecchi Emma Tudini Claudia Foglia Patrizia Mondini Siranoush Manoukian Raquel Behar Encarna B Gómez Garcia Alfons Meindl Marco Montagna Dieter Niederacher Ane Y Schmidt Liliana Varesco Barbara Wappenschmidt Manjeet K Bolla Joe Dennis Kyriaki Michailidou Qin Wang Kristiina Aittomäki Irene L Andrulis Hoda Anton-Culver Volker Arndt Matthias W Beckmann Alicia Beeghly-Fadel Javier Benitez Bram Boeckx Natalia V Bogdanova Stig E Bojesen Bernardo Bonanni Hiltrud Brauch Hermann Brenner Barbara Burwinkel Jenny Chang-Claude Don M Conroy Fergus J Couch Angela Cox Simon S Cross Kamila Czene Peter Devilee Thilo Dörk Mikael Eriksson Peter A Fasching Jonine Figueroa Olivia Fletcher Henrik Flyger Marike Gabrielson Montserrat García-Closas Graham G Giles Anna González-Neira Pascal Guénel Christopher A Haiman Per Hall Ute Hamann Mikael Hartman Jan Hauke Antoinette Hollestelle John L Hopper Anna Jakubowska Audrey Jung Veli-Matti Kosma Diether Lambrechts Loid Le Marchand Annika Lindblom Jan Lubinski Arto Mannermaa Sara Margolin Hui Miao Roger L Milne Susan L Neuhausen Heli Nevanlinna Janet E Olson Paolo Peterlongo Julian Peto Katri Pylkäs Elinor J Sawyer Marjanka K Schmidt Rita K Schmutzler Andreas Schneeweiss Minouk J Schoemaker Mee Hoong See Melissa C Southey Anthony Swerdlow Soo H Teo Amanda E Toland Ian Tomlinson Thérèse Truong Christi J van Asperen Ans M W van den Ouweland Lizet E van der Kolk Robert Winqvist Drakoulis Yannoukakos Wei Zheng Alison M Dunning Douglas F Easton Alex Henderson Frans B L Hogervorst Louise Izatt Kenneth Offitt Lucy E Side Elizabeth J van Rensburg Study Embrace Study Hebon Lesley McGuffog Antonis C Antoniou Georgia Chenevix-Trench Amanda B Spurdle David E Goldgar Miguel de la Hoya Paolo Radice

Hum Mutat 2018 05 6;39(5):729-741. Epub 2018 Apr 6.

Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Milan, Italy.

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http://dx.doi.org/10.1002/humu.23411DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5947288PMC
May 2018

Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.

Authors:
Christos Mikropoulos Christina G Hutten Selkirk Sibel Saya Elizabeth Bancroft Emily Vertosick Tokhir Dadaev Charles Brendler Elizabeth Page Alexander Dias D Gareth Evans Jeanette Rothwell Lovise Maehle Karol Axcrona Kate Richardson Diana Eccles Thomas Jensen Palle J Osther Christi J van Asperen Hans Vasen Lambertus A Kiemeney Janneke Ringelberg Cezary Cybulski Dominika Wokolorczyk Rachel Hart Wayne Glover Jimmy Lam Louise Taylor Monica Salinas Lidia Feliubadaló Rogier Oldenburg Ruben Cremers Gerald Verhaegh Wendy A van Zelst-Stams Jan C Oosterwijk Jackie Cook Derek J Rosario Saundra S Buys Tom Conner Susan Domchek Jacquelyn Powers Margreet G E M Ausems Manuel R Teixeira Sofia Maia Louise Izatt Rita Schmutzler Kerstin Rhiem William D Foulkes Talia Boshari Rosemarie Davidson Marielle Ruijs Apollonia T J M Helderman-van den Enden Lesley Andrews Lisa Walker Katie Snape Alex Henderson Irene Jobson Geoffrey J Lindeman Annelie Liljegren Marion Harris Muriel A Adank Judy Kirk Amy Taylor Rachel Susman Rakefet Chen-Shtoyerman Nicholas Pachter Allan Spigelman Lucy Side Janez Zgajnar Josefina Mora Carole Brewer Neus Gadea Angela F Brady David Gallagher Theo van Os Alan Donaldson Vigdis Stefansdottir Julian Barwell Paul A James Declan Murphy Eitan Friedman Nicola Nicolai Lynn Greenhalgh Elias Obeid Vedang Murthy Lucia Copakova John McGrath Soo-Hwang Teo Sara Strom Karin Kast Daniel A Leongamornlert Anthony Chamberlain Jenny Pope Anna C Newlin Neil Aaronson Audrey Ardern-Jones Chris Bangma Elena Castro David Dearnaley Jorunn Eyfjord Alison Falconer Christopher S Foster Henrik Gronberg Freddie C Hamdy Oskar Johannsson Vincent Khoo Jan Lubinski Eli Marie Grindedal Joanne McKinley Kylie Shackleton Anita V Mitra Clare Moynihan Gad Rennert Mohnish Suri Karen Tricker Sue Moss Zsofia Kote-Jarai Andrew Vickers Hans Lilja Brian T Helfand Rosalind A Eeles

Br J Cancer 2018 03 6;118(6):e17. Epub 2018 Mar 6.

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http://dx.doi.org/10.1038/bjc.2018.11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5877440PMC
March 2018

Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.

Authors:
Christos Mikropoulos Christina G Hutten Selkirk Sibel Saya Elizabeth Bancroft Emily Vertosick Tokhir Dadaev Charles Brendler Elizabeth Page Alexander Dias D Gareth Evans Jeanette Rothwell Lovise Maehle Karol Axcrona Kate Richardson Diana Eccles Thomas Jensen Palle J Osther Christi J van Asperen Hans Vasen Lambertus A Kiemeney Janneke Ringelberg Cezary Cybulski Dominika Wokolorczyk Rachel Hart Wayne Glover Jimmy Lam Louise Taylor Monica Salinas Lidia Feliubadaló Rogier Oldenburg Ruben Cremers Gerald Verhaegh Wendy A van Zelst-Stams Jan C Oosterwijk Jackie Cook Derek J Rosario Saundra S Buys Tom Conner Susan Domchek Jacquelyn Powers Margreet Gem Ausems Manuel R Teixeira Sofia Maia Louise Izatt Rita Schmutzler Kerstin Rhiem William D Foulkes Talia Boshari Rosemarie Davidson Marielle Ruijs Apollonia Tjm Helderman-van den Enden Lesley Andrews Lisa Walker Katie Snape Alex Henderson Irene Jobson Geoffrey J Lindeman Annelie Liljegren Marion Harris Muriel A Adank Judy Kirk Amy Taylor Rachel Susman Rakefet Chen-Shtoyerman Nicholas Pachter Allan Spigelman Lucy Side Janez Zgajnar Josefina Mora Carole Brewer Neus Gadea Angela F Brady David Gallagher Theo van Os Alan Donaldson Vigdis Stefansdottir Julian Barwell Paul A James Declan Murphy Eitan Friedman Nicola Nicolai Lynn Greenhalgh Elias Obeid Vedang Murthy Lucia Copakova John McGrath Soo-Hwang Teo Sara Strom Karin Kast Daniel A Leongamornlert Anthony Chamberlain Jenny Pope Anna C Newlin Neil Aaronson Audrey Ardern-Jones Chris Bangma Elena Castro David Dearnaley Jorunn Eyfjord Alison Falconer Christopher S Foster Henrik Gronberg Freddie C Hamdy Oskar Johannsson Vincent Khoo Jan Lubinski Eli Marie Grindedal Joanne McKinley Kylie Shackleton Anita V Mitra Clare Moynihan Gad Rennert Mohnish Suri Karen Tricker Sue Moss Zsofia Kote-Jarai Andrew Vickers Hans Lilja Brian T Helfand Rosalind A Eeles

Br J Cancer 2018 01 4;118(2):266-276. Epub 2018 Jan 4.

The Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK.

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http://dx.doi.org/10.1038/bjc.2017.429DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5785754PMC
January 2018

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

Making (mis) sense of asymptomatic marked hypercalcemia in pregnancy.

Clin Case Rep 2017 10 17;5(10):1587-1590. Epub 2017 Aug 17.

Department of Diabetes and Endocrinology Guy's and St Thomas' Hospital NHS Foundation Trust London SE1 7EH UK.

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http://dx.doi.org/10.1002/ccr3.1074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5628236PMC
October 2017

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.

Authors:
Elena Vigorito Karoline B Kuchenbaecker Jonathan Beesley Julian Adlard Bjarni A Agnarsson Irene L Andrulis Banu K Arun Laure Barjhoux Muriel Belotti Javier Benitez Andreas Berger Anders Bojesen Bernardo Bonanni Carole Brewer Trinidad Caldes Maria A Caligo Ian Campbell Salina B Chan Kathleen B M Claes David E Cohn Jackie Cook Mary B Daly Francesca Damiola Rosemarie Davidson Antoine de Pauw Capucine Delnatte Orland Diez Susan M Domchek Martine Dumont Katarzyna Durda Bernd Dworniczak Douglas F Easton Diana Eccles Christina Edwinsdotter Ardnor Ros Eeles Bent Ejlertsen Steve Ellis D Gareth Evans Lidia Feliubadalo Florentia Fostira William D Foulkes Eitan Friedman Debra Frost Pragna Gaddam Patricia A Ganz Judy Garber Vanesa Garcia-Barberan Marion Gauthier-Villars Andrea Gehrig Anne-Marie Gerdes Sophie Giraud Andrew K Godwin David E Goldgar Christopher R Hake Thomas V O Hansen Sue Healey Shirley Hodgson Frans B L Hogervorst Claude Houdayer Peter J Hulick Evgeny N Imyanitov Claudine Isaacs Louise Izatt Angel Izquierdo Lauren Jacobs Anna Jakubowska Ramunas Janavicius Katarzyna Jaworska-Bieniek Uffe Birk Jensen Esther M John Joseph Vijai Beth Y Karlan Karin Kast KConFab Investigators Sofia Khan Ava Kwong Yael Laitman Jenny Lester Fabienne Lesueur Annelie Liljegren Jan Lubinski Phuong L Mai Siranoush Manoukian Sylvie Mazoyer Alfons Meindl Arjen R Mensenkamp Marco Montagna Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Dieter Niederacher Edith Olah Olufunmilayo I Olopade Kai-Ren Ong Ana Osorio Sue Kyung Park Ylva Paulsson-Karlsson Inge Sokilde Pedersen Bernard Peissel Paolo Peterlongo Georg Pfeiler Catherine M Phelan Marion Piedmonte Bruce Poppe Miquel Angel Pujana Paolo Radice Gad Rennert Gustavo C Rodriguez Matti A Rookus Eric A Ross Rita Katharina Schmutzler Jacques Simard Christian F Singer Thomas P Slavin Penny Soucy Melissa Southey Doris Steinemann Dominique Stoppa-Lyonnet Grzegorz Sukiennicki Christian Sutter Csilla I Szabo Muy-Kheng Tea Manuel R Teixeira Soo-Hwang Teo Mary Beth Terry Mads Thomassen Maria Grazia Tibiletti Laima Tihomirova Silvia Tognazzo Elizabeth J van Rensburg Liliana Varesco Raymonda Varon-Mateeva Athanassios Vratimos Jeffrey N Weitzel Lesley McGuffog Judy Kirk Amanda Ewart Toland Ute Hamann Noralane Lindor Susan J Ramus Mark H Greene Fergus J Couch Kenneth Offit Paul D P Pharoah Georgia Chenevix-Trench Antonis C Antoniou

PLoS One 2016 27;11(7):e0158801. Epub 2016 Jul 27.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4963094PMC
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

The RET E616Q Variant is a Gain of Function Mutation Present in a Family with Features of Multiple Endocrine Neoplasia 2A.

Endocr Pathol 2017 Mar;28(1):41-48

Cancer Genetics, Department of Medical and Molecular Genetics, Division of Genetics and Molecular Medicine, King's College London, London, UK.

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http://dx.doi.org/10.1007/s12022-016-9451-6DOI Listing
March 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://www.ncbi.nlm.nih.gov/pmc/articles/PMC5222911PMC
January 2017

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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http://dx.doi.org/10.1038/ng.3521DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4938803PMC
April 2016

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.

Authors:
Valentina Silvestri Daniel Barrowdale Anna Marie Mulligan Susan L Neuhausen Stephen Fox Beth Y Karlan Gillian Mitchell Paul James Darcy L Thull Kristin K Zorn Natalie J Carter Katherine L Nathanson Susan M Domchek Timothy R Rebbeck Susan J Ramus Robert L Nussbaum Olufunmilayo I Olopade Johanna Rantala Sook-Yee Yoon Maria A Caligo Laura Spugnesi Anders Bojesen Inge Sokilde Pedersen Mads Thomassen Uffe Birk Jensen Amanda Ewart Toland Leigha Senter Irene L Andrulis Gord Glendon Peter J Hulick Evgeny N Imyanitov Mark H Greene Phuong L Mai Christian F Singer Christine Rappaport-Fuerhauser Gero Kramer Joseph Vijai Kenneth Offit Mark Robson Anne Lincoln Lauren Jacobs Eva Machackova Lenka Foretova Marie Navratilova Petra Vasickova Fergus J Couch Emily Hallberg Kathryn J Ruddy Priyanka Sharma Sung-Won Kim Manuel R Teixeira Pedro Pinto Marco Montagna Laura Matricardi Adalgeir Arason Oskar Th Johannsson Rosa B Barkardottir Anna Jakubowska Jan Lubinski Angel Izquierdo Miguel Angel Pujana Judith Balmaña Orland Diez Gabriella Ivady Janos Papp Edith Olah Ava Kwong Heli Nevanlinna Kristiina Aittomäki Pedro Perez Segura Trinidad Caldes Tom Van Maerken Bruce Poppe Kathleen B M Claes Claudine Isaacs Camille Elan Christine Lasset Dominique Stoppa-Lyonnet Laure Barjhoux Muriel Belotti Alfons Meindl Andrea Gehrig Christian Sutter Christoph Engel Dieter Niederacher Doris Steinemann Eric Hahnen Karin Kast Norbert Arnold Raymonda Varon-Mateeva Dorothea Wand Andrew K Godwin D Gareth Evans Debra Frost Jo Perkins Julian Adlard Louise Izatt Radka Platte Ros Eeles Steve Ellis Ute Hamann Judy Garber Florentia Fostira George Fountzilas Barbara Pasini Giuseppe Giannini Piera Rizzolo Antonio Russo Laura Cortesi Laura Papi Liliana Varesco Domenico Palli Ines Zanna Antonella Savarese Paolo Radice Siranoush Manoukian Bernard Peissel Monica Barile Bernardo Bonanni Alessandra Viel Valeria Pensotti Stefania Tommasi Paolo Peterlongo Jeffrey N Weitzel Ana Osorio Javier Benitez Lesley McGuffog Sue Healey Anne-Marie Gerdes Bent Ejlertsen Thomas V O Hansen Linda Steele Yuan Chun Ding Nadine Tung Ramunas Janavicius David E Goldgar Saundra S Buys Mary B Daly Anita Bane Mary Beth Terry Esther M John Melissa Southey Douglas F Easton Georgia Chenevix-Trench Antonis C Antoniou Laura Ottini

Breast Cancer Res 2016 Feb 9;18(1):15. Epub 2016 Feb 9.

Department of Molecular Medicine, Sapienza University of Rome, Viale Regina Elena, 324, 00161, Rome, Italy.

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http://dx.doi.org/10.1186/s13058-016-0671-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746828PMC
February 2016

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://dx.doi.org/10.1001/jama.2014.5985DOI Listing
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://dx.doi.org/10.1186/s13058-015-0567-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478717PMC
April 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://dx.doi.org/10.1158/1055-9965.EPI-14-0532DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4294951PMC
January 2015

Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia.

Authors:
Amanda B Spurdle Fergus J Couch Michael T Parsons Lesley McGuffog Daniel Barrowdale Manjeet K Bolla Qin Wang Sue Healey Rita Schmutzler Barbara Wappenschmidt Kerstin Rhiem Eric Hahnen Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Hansjoerg Plendl Dieter Niederacher Christian Sutter Shan Wang-Gohrke Doris Steinemann Sabine Preisler-Adams Karin Kast Raymonda Varon-Mateeva Steve Ellis Debra Frost Radka Platte Jo Perkins D Gareth Evans Louise Izatt Ros Eeles Julian Adlard Rosemarie Davidson Trevor Cole Giulietta Scuvera Siranoush Manoukian Bernardo Bonanni Frederique Mariette Stefano Fortuzzi Alessandra Viel Barbara Pasini Laura Papi Liliana Varesco Rosemary Balleine Katherine L Nathanson Susan M Domchek Kenneth Offitt Anna Jakubowska Noralane Lindor Mads Thomassen Uffe Birk Jensen Johanna Rantala Åke Borg Irene L Andrulis Alexander Miron Thomas V O Hansen Trinidad Caldes Susan L Neuhausen Amanda E Toland Heli Nevanlinna Marco Montagna Judy Garber Andrew K Godwin Ana Osorio Rachel E Factor Mary B Terry Timothy R Rebbeck Beth Y Karlan Melissa Southey Muhammad Usman Rashid Nadine Tung Paul D P Pharoah Fiona M Blows Alison M Dunning Elena Provenzano Per Hall Kamila Czene Marjanka K Schmidt Annegien Broeks Sten Cornelissen Senno Verhoef Peter A Fasching Matthias W Beckmann Arif B Ekici Dennis J Slamon Stig E Bojesen Børge G Nordestgaard Sune F Nielsen Henrik Flyger Jenny Chang-Claude Dieter Flesch-Janys Anja Rudolph Petra Seibold Kristiina Aittomäki Taru A Muranen Päivi Heikkilä Carl Blomqvist Jonine Figueroa Stephen J Chanock Louise Brinton Jolanta Lissowska Janet E Olson Vernon S Pankratz Esther M John Alice S Whittemore Dee W West Ute Hamann Diana Torres Hans Ulrich Ulmer Thomas Rüdiger Peter Devilee Robert A E M Tollenaar Caroline Seynaeve Christi J Van Asperen Diana M Eccles William J Tapper Lorraine Durcan Louise Jones Julian Peto Isabel dos-Santos-Silva Olivia Fletcher Nichola Johnson Miriam Dwek Ruth Swann Anita L Bane Gord Glendon Anna M Mulligan Graham G Giles Roger L Milne Laura Baglietto Catriona McLean Jane Carpenter Christine Clarke Rodney Scott Hiltrud Brauch Thomas Brüning Yon-Dschun Ko Angela Cox Simon S Cross Malcolm W R Reed Jan Lubinski Katarzyna Jaworska-Bieniek Katarzyna Durda Jacek Gronwald Thilo Dörk Natalia Bogdanova Tjoung-Won Park-Simon Peter Hillemanns Christopher A Haiman Brian E Henderson Fredrick Schumacher Loic Le Marchand Barbara Burwinkel Frederik Marme Harald Surovy Rongxi Yang Hoda Anton-Culver Argyrios Ziogas Maartje J Hooning J Margriet Collée John W M Martens Madeleine M A Tilanus-Linthorst Hermann Brenner Aida Karina Dieffenbach Volke Arndt Christa Stegmaier Robert Winqvist Katri Pylkäs Arja Jukkola-Vuorinen Mervi Grip Annika Lindblom Sara Margolin Vijai Joseph Mark Robson Rohini Rau-Murthy Anna González-Neira José Ignacio Arias Pilar Zamora Javier Benítez Arto Mannermaa Vesa Kataja Veli-Matti Kosma Jaana M Hartikainen Paolo Peterlongo Daniela Zaffaroni Monica Barile Fabio Capra Paolo Radice Soo H Teo Douglas F Easton Antonis C Antoniou Georgia Chenevix-Trench David E Goldgar

Breast Cancer Res 2014 Dec 23;16(6):3419. Epub 2014 Dec 23.

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http://dx.doi.org/10.1186/s13058-014-0474-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352262PMC
December 2014

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://dx.doi.org/10.1186/s13058-014-0492-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4406179PMC
December 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://dx.doi.org/10.1016/j.eururo.2014.01.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4105321PMC
September 2014

EGFR-mutated lung cancer in Li-Fraumeni syndrome.

Lung Cancer 2014 Sep 30;85(3):485-7. Epub 2014 Jun 30.

Department of Medical Oncology, Guy's and St. Thomas' NHS Foundation Trust, London, UK; Division of Cancer Studies, King's College London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.lungcan.2014.06.017DOI Listing
September 2014

Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).

J Clin Endocrinol Metab 2014 Jul 7;99(7):E1300-5. Epub 2014 Apr 7.

Academic Endocrine Unit (A.R., M.A.N., F.M.H., S.A.H., C.M.G., R.V.T.), Nuffield Department of Clinical Medicine, and Academic Endocrine Unit (A.R., M.A.N., F.M.H., S.A.H., C.M.G., R.V.T.), Radcliffe Department of Medicine, University of Oxford, Oxford OX3 7LJ, United Kingdom; Oxford Molecular Genetics Laboratory (T.C.) and Oxford Centre for Diabetes, Endocrinology, and Metabolism (A.B.G.), Churchill Hospital, Oxford OX3 7LJ, United Kingdom; Department of Paediatric Endocrinology (J.A., C.B.), Great Ormond Street Hospital, London WC1N 3JH, United Kingdom; Department of Paediatric Endocrinology (J.A.), Royal London Hospital, London E1 1BB, United Kingdom; Department of Endocrinology (J.S.B.), Aberdeen Royal Infirmary, Aberdeen AB25 2ZN, United Kingdom; Departments of Diabetes and Endocrinology (G.B.) and Clinical Genetics (S.V.H., K.S.), St George's Hospital, London SW17 0RE, United Kingdom; Jenny Lind Children's Department (V.D.), Norfolk and Norwich University Hospitals National Health Service Foundation Trust, Norfolk NR4 7UY, United Kingdom; Department of Clinical Genetics (L.I.), Guy's and St Thomas' Foundation Trust, Guy's Hospital, London SE1 9RT, United Kingdom; Department of Paediatrics (L.M.-J.), Royal Glamorgan Hospital, Glamorgan CF72 8XR, United Kingdom; Endocrine Unit (S.H.P.), Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, United Kingdom; Department of Clinical Genetics (L.R.), Leicester Royal Infirmary, Leicester LE1 5WW, United Kingdom; Department of Medicine (P.L.S.), Manchester Royal Infirmary, Manchester M13 9WL, United Kingdom; Department of Clinical Biochemistry (B.S.), John Radcliffe Hospital, Oxford OX3 9DU, United Kingdom; and Department of Paediatrics (J.W.), University Hospital of Wales, Cardiff CF14 4XW, United Kingdom.

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http://dx.doi.org/10.1210/jc.2013-3909DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4447854PMC
July 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

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

A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.

J Clin Endocrinol Metab 2013 Jul 10;98(7):E1248-56. Epub 2013 May 10.

Centre for Rare Diseases and Personalised Medicine, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham B15 2TH, United Kingdom.

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http://dx.doi.org/10.1210/jc.2013-1319DOI Listing
July 2013

Deficiency of the cyclin-dependent kinase inhibitor, CDKN1B, results in overgrowth and neurodevelopmental delay.

Hum Mutat 2013 Jun 12;34(6):864-8. Epub 2013 Apr 12.

Department of Medical & Molecular Genetics, King's College London School of Medicine, Guy's Hospital, Great Maze Pond, London, United Kingdom.

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http://dx.doi.org/10.1002/humu.22314DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3708111PMC
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

Carney Stratakis syndrome in a patient with SDHD mutation.

Endocr Pathol 2012 Sep;23(3):181-6

Department of Diabetes and Endocrinology, Guy's and St Thomas' Foundation Trust, St Thomas' Hospital, London, UK.

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http://dx.doi.org/10.1007/s12022-012-9213-zDOI Listing
September 2012

When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR).

J Clin Endocrinol Metab 2012 Sep 28;97(9):E1798-807. Epub 2012 Jun 28.

Harvard Center for Reproductive Sciences and Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, 55 Fruit Street, BHX 504, Boston, Massachusetts 02114, USA.

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http://dx.doi.org/10.1210/jc.2012-1264DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3431570PMC
September 2012

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

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.

Authors:
Anna Marie Mulligan Fergus J Couch Daniel Barrowdale Susan M Domchek Diana Eccles Heli Nevanlinna Susan J Ramus Mark Robson Mark Sherman Amanda B Spurdle Barbara Wappenschmidt Andrew Lee Lesley McGuffog Sue Healey Olga M Sinilnikova Ramunas Janavicius Thomas vO Hansen Finn C Nielsen Bent Ejlertsen Ana Osorio Iván Muñoz-Repeto Mercedes Durán Javier Godino Maroulio Pertesi Javier Benítez Paolo Peterlongo Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Elisa Cattaneo Bernardo Bonanni Alessandra Viel Barbara Pasini Laura Papi Laura Ottini Antonella Savarese Loris Bernard Paolo Radice Ute Hamann Martijn Verheus Hanne E J Meijers-Heijboer Juul Wijnen Encarna B Gómez García Marcel R Nelen C Marleen Kets Caroline Seynaeve Madeleine M A Tilanus-Linthorst Rob B van der Luijt Theo van Os Matti Rookus Debra Frost J Louise Jones D Gareth Evans Fiona Lalloo Ros Eeles Louise Izatt Julian Adlard Rosemarie Davidson Jackie Cook Alan Donaldson Huw Dorkins Helen Gregory Jacqueline Eason Catherine Houghton Julian Barwell Lucy E Side Emma McCann Alex Murray Susan Peock Andrew K Godwin Rita K Schmutzler Kerstin Rhiem Christoph Engel Alfons Meindl Ina Ruehl Norbert Arnold Dieter Niederacher Christian Sutter Helmut Deissler Dorothea Gadzicki Karin Kast Sabine Preisler-Adams Raymonda Varon-Mateeva Ines Schoenbuchner Britta Fiebig Wolfram Heinritz Dieter Schäfer Heidrun Gevensleben Virginie Caux-Moncoutier Marion Fassy-Colcombet François Cornelis Sylvie Mazoyer Mélanie Léoné Nadia Boutry-Kryza Agnès Hardouin Pascaline Berthet Danièle Muller Jean-Pierre Fricker Isabelle Mortemousque Pascal Pujol Isabelle Coupier Marine Lebrun Caroline Kientz Michel Longy Nicolas Sevenet Dominique Stoppa-Lyonnet Claudine Isaacs Trinidad Caldes Miguel de la Hoya Tuomas Heikkinen Kristiina Aittomäki Ignacio Blanco Conxi Lazaro Rosa B Barkardottir Penny Soucy Martine Dumont Jacques Simard Marco Montagna Silvia Tognazzo Emma D'Andrea Stephen Fox Max Yan Tim Rebbeck Olufunmilayo Olopade Jeffrey N Weitzel Henry T Lynch Patricia A Ganz Gail E Tomlinson Xianshu Wang Zachary Fredericksen Vernon S Pankratz Noralane M Lindor Csilla Szabo Kenneth Offit Rita Sakr Mia Gaudet Jasmine Bhatia Noah Kauff Christian F Singer Muy-Kheng Tea Daphne Gschwantler-Kaulich Anneliese Fink-Retter Phuong L Mai Mark H Greene Evgeny Imyanitov Frances P O'Malley Hilmi Ozcelik Gordon Glendon Amanda E Toland Anne-Marie Gerdes Mads Thomassen Torben A Kruse Uffe Birk Jensen Anne-Bine Skytte Maria A Caligo Maria Soller Karin Henriksson von Anna Wachenfeldt Brita Arver Marie Stenmark-Askmalm Per Karlsson Yuan Chun Ding Susan L Neuhausen Mary Beattie Paul D P Pharoah Kirsten B Moysich Katherine L Nathanson Beth Y Karlan Jenny Gross Esther M John Mary B Daly Saundra M Buys Melissa C Southey John L Hopper Mary Beth Terry Wendy Chung Alexander F Miron David Goldgar Georgia Chenevix-Trench Douglas F Easton Irene L Andrulis Antonis C Antoniou

Breast Cancer Res 2011 2;13(6):R110. Epub 2011 Nov 2.

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, 2 Worts Causeway, Cambridge, CB1 8RN, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3326552PMC
June 2012

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers.

Authors:
David G Cox Jacques Simard Daniel Sinnett Yosr Hamdi Penny Soucy Manon Ouimet Laure Barjhoux Carole Verny-Pierre Lesley McGuffog Sue Healey Csilla Szabo Mark H Greene Phuong L Mai Irene L Andrulis Mads Thomassen Anne-Marie Gerdes Maria A Caligo Eitan Friedman Yael Laitman Bella Kaufman Shani S Paluch Åke Borg Per Karlsson Marie Stenmark Askmalm Gisela Barbany Bustinza Katherine L Nathanson Susan M Domchek Timothy R Rebbeck Javier Benítez Ute Hamann Matti A Rookus Ans M W van den Ouweland Margreet G E M Ausems Cora M Aalfs Christi J van Asperen Peter Devilee Hans J J P Gille Susan Peock Debra Frost D Gareth Evans Ros Eeles Louise Izatt Julian Adlard Joan Paterson Jacqueline Eason Andrew K Godwin Marie-Alice Remon Virginie Moncoutier Marion Gauthier-Villars Christine Lasset Sophie Giraud Agnès Hardouin Pascaline Berthet Hagay Sobol François Eisinger Brigitte Bressac de Paillerets Olivier Caron Capucine Delnatte David Goldgar Alex Miron Hilmi Ozcelik Saundra Buys Melissa C Southey Mary Beth Terry Christian F Singer Anne-Catharina Dressler Muy-Kheng Tea Thomas V O Hansen Oskar Johannsson Marion Piedmonte Gustavo C Rodriguez Jack B Basil Stephanie Blank Amanda E Toland Marco Montagna Claudine Isaacs Ignacio Blanco Simon A Gayther Kirsten B Moysich Rita K Schmutzler Barbara Wappenschmidt Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Dieter Niederacher Christian Sutter Dorothea Gadzicki Britta Fiebig Trinidad Caldes Rachel Laframboise Heli Nevanlinna Xiaoqing Chen Jonathan Beesley Amanda B Spurdle Susan L Neuhausen Yuan C Ding Fergus J Couch Xianshu Wang Paolo Peterlongo Siranoush Manoukian Loris Bernard Paolo Radice Douglas F Easton Georgia Chenevix-Trench Antonis C Antoniou Dominique Stoppa-Lyonnet Sylvie Mazoyer Olga M Sinilnikova

Hum Mol Genet 2011 Dec 2;20(23):4732-47. Epub 2011 Sep 2.

INSERM U1052, CNRS UMR5286, Université Lyon 1, Cancer Research Center of Lyon, Lyon, France.

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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddr388
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http://dx.doi.org/10.1093/hmg/ddr388DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3733139PMC
December 2011

Novel one-stop multidisciplinary follow-up clinic for BRCA1/2 carriers: patient satisfaction and decision making.

Psychooncology 2011 Dec 3;20(12):1301-8. Epub 2010 Oct 3.

Clinical Genetics Department, Guy's and St. Thomas' NHS Foundation Trust, London, UK.

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http://doi.wiley.com/10.1002/pon.1846
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December 2011

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers.

Authors:
Kate M Im Tomas Kirchhoff Xianshu Wang Todd Green Clement Y Chow Joseph Vijai Joshua Korn Mia M Gaudet Zachary Fredericksen V Shane Pankratz Candace Guiducci Andrew Crenshaw Lesley McGuffog Christiana Kartsonaki Jonathan Morrison Sue Healey Olga M Sinilnikova Phuong L Mai Mark H Greene Marion Piedmonte Wendy S Rubinstein Frans B Hogervorst Matti A Rookus J Margriet Collée Nicoline Hoogerbrugge Christi J van Asperen Hanne E J Meijers-Heijboer Cees E Van Roozendaal Trinidad Caldes Pedro Perez-Segura Anna Jakubowska Jan Lubinski Tomasz Huzarski Paweł Blecharz Heli Nevanlinna Kristiina Aittomäki Conxi Lazaro Ignacio Blanco Rosa B Barkardottir Marco Montagna Emma D'Andrea Peter Devilee Olufunmilayo I Olopade Susan L Neuhausen Bernard Peissel Bernardo Bonanni Paolo Peterlongo Christian F Singer Gad Rennert Flavio Lejbkowicz Irene L Andrulis Gord Glendon Hilmi Ozcelik Amanda Ewart Toland Maria Adelaide Caligo Mary S Beattie Salina Chan Susan M Domchek Katherine L Nathanson Timothy R Rebbeck Catherine Phelan Steven Narod Esther M John John L Hopper Saundra S Buys Mary B Daly Melissa C Southey Mary-Beth Terry Nadine Tung Thomas V O Hansen Ana Osorio Javier Benitez Mercedes Durán Jeffrey N Weitzel Judy Garber Ute Hamann Susan Peock Margaret Cook Clare T Oliver Debra Frost Radka Platte D Gareth Evans Ros Eeles Louise Izatt Joan Paterson Carole Brewer Shirley Hodgson Patrick J Morrison Mary Porteous Lisa Walker Mark T Rogers Lucy E Side Andrew K Godwin Rita K Schmutzler Barbara Wappenschmidt Yael Laitman Alfons Meindl Helmut Deissler Raymonda Varon-Mateeva Sabine Preisler-Adams Karin Kast Laurence Venat-Bouvet Dominique Stoppa-Lyonnet Georgia Chenevix-Trench Douglas F Easton Robert J Klein Mark J Daly Eitan Friedman Michael Dean Andrew G Clark David M Altshuler Antonis C Antoniou Fergus J Couch Kenneth Offit Bert Gold

Hum Genet 2011 Nov 20;130(5):685-99. Epub 2011 May 20.

Center for Cancer Research, Cancer Inflammation Program, Human Genetics Section, National Cancer Institute, Frederick, MD, USA.

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http://dx.doi.org/10.1007/s00439-011-1003-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3196382PMC
November 2011

Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer.

Authors:
Christopher A Maxwell Javier Benítez Laia Gómez-Baldó Ana Osorio Núria Bonifaci Ricardo Fernández-Ramires Sylvain V Costes Elisabet Guinó Helen Chen Gareth J R Evans Pooja Mohan Isabel Català Anna Petit Helena Aguilar Alberto Villanueva Alvaro Aytes Jordi Serra-Musach Gad Rennert Flavio Lejbkowicz Paolo Peterlongo Siranoush Manoukian Bernard Peissel Carla B Ripamonti Bernardo Bonanni Alessandra Viel Anna Allavena Loris Bernard Paolo Radice Eitan Friedman Bella Kaufman Yael Laitman Maya Dubrovsky Roni Milgrom Anna Jakubowska Cezary Cybulski Bohdan Gorski Katarzyna Jaworska Katarzyna Durda Grzegorz Sukiennicki Jan Lubiński Yin Yao Shugart Susan M Domchek Richard Letrero Barbara L Weber Frans B L Hogervorst Matti A Rookus J Margriet Collee Peter Devilee Marjolijn J Ligtenberg Rob B van der Luijt Cora M Aalfs Quinten Waisfisz Juul Wijnen Cornelis E P van Roozendaal Douglas F Easton Susan Peock Margaret Cook Clare Oliver Debra Frost Patricia Harrington D Gareth Evans Fiona Lalloo Rosalind Eeles Louise Izatt Carol Chu Diana Eccles Fiona Douglas Carole Brewer Heli Nevanlinna Tuomas Heikkinen Fergus J Couch Noralane M Lindor Xianshu Wang Andrew K Godwin Maria A Caligo Grazia Lombardi Niklas Loman Per Karlsson Hans Ehrencrona Anna von Wachenfeldt Rosa Bjork Barkardottir Ute Hamann Muhammad U Rashid Adriana Lasa Trinidad Caldés Raquel Andrés Michael Schmitt Volker Assmann Kristen Stevens Kenneth Offit João Curado Hagen Tilgner Roderic Guigó Gemma Aiza Joan Brunet Joan Castellsagué Griselda Martrat Ander Urruticoechea Ignacio Blanco Laima Tihomirova David E Goldgar Saundra Buys Esther M John Alexander Miron Melissa Southey Mary B Daly Rita K Schmutzler Barbara Wappenschmidt Alfons Meindl Norbert Arnold Helmut Deissler Raymonda Varon-Mateeva Christian Sutter Dieter Niederacher Evgeny Imyamitov Olga M Sinilnikova Dominique Stoppa-Lyonne Sylvie Mazoyer Carole Verny-Pierre Laurent Castera Antoine de Pauw Yves-Jean Bignon Nancy Uhrhammer Jean-Philippe Peyrat Philippe Vennin Sandra Fert Ferrer Marie-Agnès Collonge-Rame Isabelle Mortemousque Amanda B Spurdle Jonathan Beesley Xiaoqing Chen Sue Healey Mary Helen Barcellos-Hoff Marc Vidal Stephen B Gruber Conxi Lázaro Gabriel Capellá Lesley McGuffog Katherine L Nathanson Antonis C Antoniou Georgia Chenevix-Trench Markus C Fleisch Víctor Moreno Miguel Angel Pujana

PLoS Biol 2011 Nov 15;9(11):e1001199. Epub 2011 Nov 15.

Translational Research Laboratory, Catalan Institute of Oncology, Bellvitge Biomedical Research Institute-IDIBELL, L'Hospitalet, Catalonia, Spain.

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http://dx.doi.org/10.1371/journal.pbio.1001199DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3217025PMC
November 2011

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers.

Breast Cancer Res 2010 29;12(6):R102. Epub 2010 Nov 29.

Division of Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Australia.

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http://dx.doi.org/10.1186/bcr2785DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3046447PMC
September 2011

Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridisation: what are the issues?

J Med Genet 2011 Aug 23;48(8):535-9. Epub 2011 Mar 23.

Clinical Genetics Department, Guy's and St Thomas' NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1136/jmg.2010.087593DOI Listing
August 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

UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development.

Clin Endocrinol (Oxf) 2011 Jul;75(1):12-26

Royal Hospital for Sick Children, University of Glasgow, GlasgowDevelopmental Endocrinology, UCL Institute of Child Health, University College London, LondonInstitute of Biomedical Research, University of Birmingham, BirminghamLeeds Centre for Reproductive Medicine, Leeds Teaching Hospitals, LeedsDepartment of Endocrinology, University College London Hospitals, LondonAlder Hey Children's NHS Foundation Trust, LiverpoolCLIMB CAH Support GroupDepartment of Paediatrics, University of Cambridge, CambridgeClinical Genetics Dept, Guys Hospital, LondonDept Clinical Biochemistry, Barts and the London NHS Trust, LondonDepartment Paediatric Urology, Alder Hey NHS Foundation Trust, LiverpoolAIS Support GroupDepartment of Biochemistry, Glasgow Royal Infirmary, Glasgow, UKSociety for Endocrinology, Bristol, UK.

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http://dx.doi.org/10.1111/j.1365-2265.2011.04076.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3132446PMC
July 2011

Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma.

Fam Cancer 2011 Jun;10(2):337-42

Section of Cancer Genetics, Institute of Cancer Research and Royal Marsden Hospital, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK.

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http://dx.doi.org/10.1007/s10689-010-9411-0DOI Listing
June 2011

Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers.

Cancer Epidemiol Biomarkers Prev 2011 May 10;20(5):1032-8. Epub 2011 Mar 10.

QueenslanInstitute for Medical Research, Brisbane, Australia.

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http://dx.doi.org/10.1158/1055-9965.EPI-10-0909DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3089675PMC
May 2011

Exploring the link between MORF4L1 and risk of breast cancer.

Authors:
Griselda Martrat Christopher M Maxwell Emiko Tominaga Montserrat Porta-de-la-Riva Núria Bonifaci Laia Gómez-Baldó Massimo Bogliolo Conxi Lázaro Ignacio Blanco Joan Brunet Helena Aguilar Juana Fernández-Rodríguez Sheila Seal Anthony Renwick Nazneen Rahman Julia Kühl Kornelia Neveling Detlev Schindler María J Ramírez María Castellà Gonzalo Hernández Douglas F Easton Susan Peock Margaret Cook Clare T Oliver Debra Frost Radka Platte D Gareth Evans Fiona Lalloo Rosalind Eeles Louise Izatt Carol Chu Rosemarie Davidson Kai-Ren Ong Jackie Cook Fiona Douglas Shirley Hodgson Carole Brewer Patrick J Morrison Mary Porteous Paolo Peterlongo Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Gaia Roversi Monica Barile Alessandra Viel Barbara Pasini Laura Ottini Anna Laura Putignano Antonella Savarese Loris Bernard Paolo Radice Sue Healey Amanda Spurdle Xiaoqing Chen Jonathan Beesley Matti A Rookus Senno Verhoef Madeleine A Tilanus-Linthorst Maaike P Vreeswijk Christi J Asperen Danielle Bodmer Margreet G E M Ausems Theo A van Os Marinus J Blok Hanne E J Meijers-Heijboer Frans B L Hogervorst David E Goldgar Saundra Buys Esther M John Alexander Miron Melissa Southey Mary B Daly Katja Harbst Ake Borg Johanna Rantala Gisela Barbany-Bustinza Hans Ehrencrona Marie Stenmark-Askmalm Bella Kaufman Yael Laitman Roni Milgrom Eitan Friedman Susan M Domchek Katherine L Nathanson Timothy R Rebbeck Oskar Thor Johannsson Fergus J Couch Xianshu Wang Zachary Fredericksen Daniel Cuadras Víctor Moreno Friederike K Pientka Reinhard Depping Trinidad Caldés Ana Osorio Javier Benítez Juan Bueren Tuomas Heikkinen Heli Nevanlinna Ute Hamann Diana Torres Maria Adelaide Caligo Andrew K Godwin Evgeny N Imyanitov Ramunas Janavicius Olga M Sinilnikova Dominique Stoppa-Lyonnet Sylvie Mazoyer Carole Verny-Pierre Laurent Castera Antoine de Pauw Yves-Jean Bignon Nancy Uhrhammer Jean-Philippe Peyrat Philippe Vennin Sandra Fert Ferrer Marie-Agnès Collonge-Rame Isabelle Mortemousque Lesley McGuffog Georgia Chenevix-Trench Olivia M Pereira-Smith Antonis C Antoniou Julián Cerón Kaoru Tominaga Jordi Surrallés Miguel Angel Pujana

Breast Cancer Res 2011 Apr 5;13(2):R40. Epub 2011 Apr 5.

Translational Research Laboratory, Catalan Institute of Oncology, Bellvitge Institute for Biomedical Research (IDIBELL), Gran Via 199, L'Hospitalet del Llobregat 08908, Spain.

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http://dx.doi.org/10.1186/bcr2862DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3219203PMC
April 2011

No evidence of RET germline mutations in familial pituitary adenoma.

J Mol Endocrinol 2011 Feb 21;46(1):1-8. Epub 2010 Dec 21.

Genome-Scale Biology Research Program, Department of Medical Genetics, University of Helsinki, 00014 Helsinki, Finland.

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http://dx.doi.org/10.1677/JME-10-0052DOI Listing
February 2011

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

Authors:
Antonis C Antoniou Xianshu Wang Zachary S Fredericksen Lesley McGuffog Robert Tarrell Olga M Sinilnikova Sue Healey Jonathan Morrison Christiana Kartsonaki Timothy Lesnick Maya Ghoussaini Daniel Barrowdale Susan Peock Margaret Cook Clare Oliver Debra Frost Diana Eccles D Gareth Evans Ros Eeles Louise Izatt Carol Chu Fiona Douglas Joan Paterson Dominique Stoppa-Lyonnet Claude Houdayer Sylvie Mazoyer Sophie Giraud Christine Lasset Audrey Remenieras Olivier Caron Agnès Hardouin Pascaline Berthet Frans B L Hogervorst Matti A Rookus Agnes Jager Ans van den Ouweland Nicoline Hoogerbrugge Rob B van der Luijt Hanne Meijers-Heijboer Encarna B Gómez García Peter Devilee Maaike P G Vreeswijk Jan Lubinski Anna Jakubowska Jacek Gronwald Tomasz Huzarski Tomasz Byrski Bohdan Górski Cezary Cybulski Amanda B Spurdle Helene Holland David E Goldgar Esther M John John L Hopper Melissa Southey Saundra S Buys Mary B Daly Mary-Beth Terry Rita K Schmutzler Barbara Wappenschmidt Christoph Engel Alfons Meindl Sabine Preisler-Adams Norbert Arnold Dieter Niederacher Christian Sutter Susan M Domchek Katherine L Nathanson Timothy Rebbeck Joanne L Blum Marion Piedmonte Gustavo C Rodriguez Katie Wakeley John F Boggess Jack Basil Stephanie V Blank Eitan Friedman Bella Kaufman Yael Laitman Roni Milgrom Irene L Andrulis Gord Glendon Hilmi Ozcelik Tomas Kirchhoff Joseph Vijai Mia M Gaudet David Altshuler Candace Guiducci Niklas Loman Katja Harbst Johanna Rantala Hans Ehrencrona Anne-Marie Gerdes Mads Thomassen Lone Sunde Paolo Peterlongo Siranoush Manoukian Bernardo Bonanni Alessandra Viel Paolo Radice Trinidad Caldes Miguel de la Hoya Christian F Singer Anneliese Fink-Retter Mark H Greene Phuong L Mai Jennifer T Loud Lucia Guidugli Noralane M Lindor Thomas V O Hansen Finn C Nielsen Ignacio Blanco Conxi Lazaro Judy Garber Susan J Ramus Simon A Gayther Catherine Phelan Stephen Narod Csilla I Szabo Javier Benitez Ana Osorio Heli Nevanlinna Tuomas Heikkinen Maria A Caligo Mary S Beattie Ute Hamann Andrew K Godwin Marco Montagna Cinzia Casella Susan L Neuhausen Beth Y Karlan Nadine Tung Amanda E Toland Jeffrey Weitzel Olofunmilayo Olopade Jacques Simard Penny Soucy Wendy S Rubinstein Adalgeir Arason Gad Rennert Nicholas G Martin Grant W Montgomery Jenny Chang-Claude Dieter Flesch-Janys Hiltrud Brauch Gianluca Severi Laura Baglietto Angela Cox Simon S Cross Penelope Miron Sue M Gerty William Tapper Drakoulis Yannoukakos George Fountzilas Peter A Fasching Matthias W Beckmann Isabel Dos Santos Silva Julian Peto Diether Lambrechts Robert Paridaens Thomas Rüdiger Asta Försti Robert Winqvist Katri Pylkäs Robert B Diasio Adam M Lee Jeanette Eckel-Passow Celine Vachon Fiona Blows Kristy Driver Alison Dunning Paul P D Pharoah Kenneth Offit V Shane Pankratz Hakon Hakonarson Georgia Chenevix-Trench Douglas F Easton Fergus J Couch

Nat Genet 2010 Oct 19;42(10):885-92. Epub 2010 Sep 19.

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

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http://dx.doi.org/10.1038/ng.669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3130795PMC
October 2010

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer.

Authors:
Mia M Gaudet Tomas Kirchhoff Todd Green Joseph Vijai Joshua M Korn Candace Guiducci Ayellet V Segrè Kate McGee Lesley McGuffog Christiana Kartsonaki Jonathan Morrison Sue Healey Olga M Sinilnikova Dominique Stoppa-Lyonnet Sylvie Mazoyer Marion Gauthier-Villars Hagay Sobol Michel Longy Marc Frenay GEMO Study Collaborators Frans B L Hogervorst Matti A Rookus J Margriet Collée Nicoline Hoogerbrugge Kees E P van Roozendaal Marion Piedmonte Wendy Rubinstein Stacy Nerenstone Linda Van Le Stephanie V Blank Trinidad Caldés Miguel de la Hoya Heli Nevanlinna Kristiina Aittomäki Conxi Lazaro Ignacio Blanco Adalgeir Arason Oskar T Johannsson Rosa B Barkardottir Peter Devilee Olofunmilayo I Olopade Susan L Neuhausen Xianshu Wang Zachary S Fredericksen Paolo Peterlongo Siranoush Manoukian Monica Barile Alessandra Viel Paolo Radice Catherine M Phelan Steven Narod Gad Rennert Flavio Lejbkowicz Anath Flugelman Irene L Andrulis Gord Glendon Hilmi Ozcelik Amanda E Toland Marco Montagna Emma D'Andrea Eitan Friedman Yael Laitman Ake Borg Mary Beattie Susan J Ramus Susan M Domchek Katherine L Nathanson Tim Rebbeck Amanda B Spurdle Xiaoqing Chen Helene Holland Esther M John John L Hopper Saundra S Buys Mary B Daly Melissa C Southey Mary Beth Terry Nadine Tung Thomas V Overeem Hansen Finn C Nielsen Mark H Greene Mark I Greene Phuong L Mai Ana Osorio Mercedes Durán Raquel Andres Javier Benítez Jeffrey N Weitzel Judy Garber Ute Hamann Susan Peock Margaret Cook Clare Oliver Debra Frost Radka Platte D Gareth Evans Fiona Lalloo Ros Eeles Louise Izatt Lisa Walker Jacqueline Eason Julian Barwell Andrew K Godwin Rita K Schmutzler Barbara Wappenschmidt Stefanie Engert Norbert Arnold Dorothea Gadzicki Michael Dean Bert Gold Robert J Klein Fergus J Couch Georgia Chenevix-Trench Douglas F Easton Mark J Daly Antonis C Antoniou David M Altshuler Kenneth Offit

PLoS Genet 2010 Oct 28;6(10):e1001183. Epub 2010 Oct 28.

Department of Epidemiology and Population Health and Department of Obstetrics and Gynecology and Women's Health, Albert Einstein College of Medicine, New York, New York, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1001183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2965747PMC
October 2010

The clinical spectrum of multiple endocrine neoplasia type 2a caused by the rare intracellular RET mutation S891A.

J Clin Endocrinol Metab 2010 Sep 16;95(9):E92-7. Epub 2010 Jun 16.

Department of Endocrine Surgery, King's College Hospital, Denmark Hill, London SE5 9RS, United Kingdom.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2010-0375DOI Listing
September 2010

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers.

Authors:
Antonis C Antoniou Olga M Sinilnikova Lesley McGuffog Sue Healey Heli Nevanlinna Tuomas Heikkinen Jacques Simard Amanda B Spurdle Jonathan Beesley Xiaoqing Chen Susan L Neuhausen Yuan C Ding Fergus J Couch Xianshu Wang Zachary Fredericksen Paolo Peterlongo Bernard Peissel Bernardo Bonanni Alessandra Viel Loris Bernard Paolo Radice Csilla I Szabo Lenka Foretova Michal Zikan Kathleen Claes Mark H Greene Phuong L Mai Gad Rennert Flavio Lejbkowicz Irene L Andrulis Hilmi Ozcelik Gord Glendon Anne-Marie Gerdes Mads Thomassen Lone Sunde Maria A Caligo Yael Laitman Tair Kontorovich Shimrit Cohen Bella Kaufman Efrat Dagan Ruth Gershoni Baruch Eitan Friedman Katja Harbst Gisela Barbany-Bustinza Johanna Rantala Hans Ehrencrona Per Karlsson Susan M Domchek Katherine L Nathanson Ana Osorio Ignacio Blanco Adriana Lasa Javier Benítez Ute Hamann Frans B L Hogervorst Matti A Rookus J Margriet Collee Peter Devilee Marjolijn J Ligtenberg Rob B van der Luijt Cora M Aalfs Quinten Waisfisz Juul Wijnen Cornelis E P van Roozendaal Susan Peock Margaret Cook Debra Frost Clare Oliver Radka Platte D Gareth Evans Fiona Lalloo Rosalind Eeles Louise Izatt Rosemarie Davidson Carol Chu Diana Eccles Trevor Cole Shirley Hodgson Andrew K Godwin Dominique Stoppa-Lyonnet Bruno Buecher Mélanie Léoné Brigitte Bressac-de Paillerets Audrey Remenieras Olivier Caron Gilbert M Lenoir Nicolas Sevenet Michel Longy Sandra Fert Ferrer Fabienne Prieur David Goldgar Alexander Miron Esther M John Saundra S Buys Mary B Daly John L Hopper Mary Beth Terry Yosuf Yassin Christian Singer Daphne Gschwantler-Kaulich Christine Staudigl Thomas v O Hansen Rosa Bjork Barkardottir Tomas Kirchhoff Prodipto Pal Kristi Kosarin Kenneth Offit Marion Piedmonte Gustavo C Rodriguez Katie Wakeley John F Boggess Jack Basil Peter E Schwartz Stephanie V Blank Amanda E Toland Marco Montagna Cinzia Casella Evgeny N Imyanitov Anna Allavena Rita K Schmutzler Beatrix Versmold Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Dieter Niederacher Helmut Deissler Britta Fiebig Christian Suttner Ines Schönbuchner Dorothea Gadzicki Trinidad Caldes Miguel de la Hoya Karen A Pooley Douglas F Easton Georgia Chenevix-Trench

Hum Mol Genet 2009 Nov 5;18(22):4442-56. Epub 2009 Aug 5.

Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit, University of Cambridge, Cambridge, UK.

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http://dx.doi.org/10.1093/hmg/ddp372DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2782243PMC
November 2009

Gene-related cancer spectrum in families with hereditary non-polyposis colorectal cancer (HNPCC).

Fam Cancer 2008 16;7(2):163-72. Epub 2007 Oct 16.

Department of Medical Genetics, St George's University of London, Cranmer Terrace, London SW17 0RE, UK.

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http://dx.doi.org/10.1007/s10689-007-9164-6DOI Listing
October 2008

Large genomic deletions in AIP in pituitary adenoma predisposition.

J Clin Endocrinol Metab 2008 Oct 15;93(10):4146-51. Epub 2008 Jul 15.

Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, 00014 Helsinki, Finland.

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http://dx.doi.org/10.1210/jc.2008-1003DOI Listing
October 2008

Donor-transmitted malignancy confirmed by quantitative fluorescence polymerase chain reaction genotype analysis: a rare indication for liver retransplantation.

Liver Transpl 2008 Feb;14(2):155-8

Department of Neurology, Guy's and St Thomas' National Health Service Foundation Trust, London, United Kingdom.

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http://doi.wiley.com/10.1002/lt.21347
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http://dx.doi.org/10.1002/lt.21347DOI Listing
February 2008

Autosomal recessive spinocerebellar ataxia and peripheral neuropathy with raised alpha-fetoprotein.

J Neurol 2004 Jul;251(7):805-12

Department of Clinical Genetics, Guy's Hospital NHS Trust, St Thomas Street, London SE1 9RT, UK.

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http://dx.doi.org/10.1007/s00415-004-0427-yDOI Listing
July 2004