Eric Hahnen

Eric Hahnen

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Eric Hahnen

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Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Authors:
Michael T Parsons Emma Tudini Hongyan Li Eric Hahnen Barbara Wappenschmidt Lidia Feliubadaló Cora M Aalfs Simona Agata Kristiina Aittomäki Elisa Alducci María Concepción Alonso-Cerezo Norbert Arnold Bernd Auber Rachel Austin Jacopo Azzollini Judith Balmaña Elena Barbieri Claus R Bartram Ana Blanco Britta Blümcke Sandra Bonache Bernardo Bonanni Åke Borg Beatrice Bortesi Joan Brunet Carla Bruzzone Karolin Bucksch Giulia Cagnoli Trinidad Caldés Almuth Caliebe Maria A Caligo Mariarosaria Calvello Gabriele L Capone Sandrine M Caputo Ileana Carnevali Estela Carrasco Virginie Caux-Moncoutier Pietro Cavalli Giulia Cini Edward M Clarke Paola Concolino Elisa J Cops Laura Cortesi Fergus J Couch Esther Darder Miguel de la Hoya Michael Dean Irmgard Debatin Jesús Del Valle Capucine Delnatte Nicolas Derive Orland Diez Nina Ditsch Susan M Domchek Véronique Dutrannoy Diana M Eccles Hans Ehrencrona Ute Enders D Gareth Evans Ulrike Faust Ute Felbor Irene Feroce Miriam Fine Henrique C R Galvao Gaetana Gambino Andrea Gehrig Francesca Gensini Anne-Marie Gerdes Aldo Germani Jutta Giesecke Viviana Gismondi Carolina Gómez Encarna B Gómez Garcia Sara González Elia Grau Sabine Grill Eva Gross Aliana Guerrieri-Gonzaga Marine Guillaud-Bataille Sara Gutiérrez-Enríquez Thomas Haaf Karl Hackmann Thomas V O Hansen Marion Harris Jan Hauke Tilman Heinrich Heide Hellebrand Karen N Herold Ellen Honisch Judit Horvath Claude Houdayer Verena Hübbel Silvia Iglesias Angel Izquierdo Paul A James Linda A M Janssen Udo Jeschke Silke Kaulfuß Katharina Keupp Marion Kiechle Alexandra Kölbl Sophie Krieger Torben A Kruse Anders Kvist Fiona Lalloo Mirjam Larsen Vanessa L Lattimore Charlotte Lautrup Susanne Ledig Elena Leinert Alexandra L Lewis Joanna Lim Markus Loeffler Adrià López-Fernández Emanuela Lucci-Cordisco Nicolai Maass Siranoush Manoukian Monica Marabelli Laura Matricardi Alfons Meindl Rodrigo D Michelli Setareh Moghadasi Alejandro Moles-Fernández Marco Montagna Gemma Montalban Alvaro N Monteiro Eva Montes Luigi Mori Lidia Moserle Clemens R Müller Christoph Mundhenke Nadia Naldi Katherine L Nathanson Matilde Navarro Heli Nevanlinna Cassandra B Nichols Dieter Niederacher Henriette R Nielsen Kai-Ren Ong Nicholas Pachter Edenir I Palmero Laura Papi Inge Sokilde Pedersen Bernard Peissel Pedro Pérez-Segura Katharina Pfeifer Marta Pineda Esther Pohl-Rescigno Nicola K Poplawski Berardino Porfirio Anne S Quante Juliane Ramser Rui M Reis Françoise Revillion Kerstin Rhiem Barbara Riboli Julia Ritter Daniela Rivera Paula Rofes Andreas Rump Monica Salinas Ana María Sánchez de Abajo Gunnar Schmidt Ulrike Schoenwiese Jochen Seggewiß Ares Solanes Doris Steinemann Mathias Stiller Dominique Stoppa-Lyonnet Kelly J Sullivan Rachel Susman Christian Sutter Sean V Tavtigian Soo H Teo Alex Teulé Mads Thomassen Maria Grazia Tibiletti Silvia Tognazzo Amanda E Toland Eva Tornero Therese Törngren Sara Torres-Esquius Angela Toss Alison H Trainer Christi J van Asperen Marion T van Mackelenbergh Liliana Varesco Gardenia Vargas-Parra Raymonda Varon Ana Vega Ángela Velasco Anne-Sophie Vesper Alessandra Viel Maaike P G Vreeswijk Sebastian A Wagner Anke Waha Logan C Walker Rhiannon J Walters Shan Wang-Gohrke Bernhard H F Weber Wilko Weichert Kerstin Wieland Lisa Wiesmüller Isabell Witzel Achim Wöckel Emma R Woodward Silke Zachariae Valentina Zampiga Christine Zeder-Göß Conxi Lázaro Arcangela De Nicolo Paolo Radice Christoph Engel Rita K Schmutzler David E Goldgar Amanda B Spurdle

Hum Mutat 2019 May 27. Epub 2019 May 27.

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

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http://dx.doi.org/10.1002/humu.23818DOI Listing
May 2019

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

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

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

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

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

Genome-wide association study of germline variants and breast cancer-specific mortality.

Authors:
Maria Escala-Garcia Qi Guo Thilo Dörk Sander Canisius Renske Keeman Joe Dennis Jonathan Beesley Julie Lecarpentier Manjeet K Bolla Qin Wang Jean Abraham Irene L Andrulis Hoda Anton-Culver Volker Arndt Paul L Auer Matthias W Beckmann Sabine Behrens Javier Benitez Marina Bermisheva Leslie Bernstein Carl Blomqvist Bram Boeckx Stig E Bojesen Bernardo Bonanni Anne-Lise Børresen-Dale Hiltrud Brauch Hermann Brenner Adam Brentnall Louise Brinton Per Broberg Ian W Brock Sara Y Brucker Barbara Burwinkel Carlos Caldas Trinidad Caldés Daniele Campa Federico Canzian Angel Carracedo Brian D Carter Jose E Castelao Jenny Chang-Claude Stephen J Chanock Georgia Chenevix-Trench Ting-Yuan David Cheng Suet-Feung Chin Christine L Clarke Emilie Cordina-Duverger Fergus J Couch David G Cox Angela Cox Simon S Cross Kamila Czene Mary B Daly Peter Devilee Janet A Dunn Alison M Dunning Lorraine Durcan Miriam Dwek Helena M Earl Arif B Ekici A Heather Eliassen Carolina Ellberg Christoph Engel Mikael Eriksson D Gareth Evans Jonine Figueroa Dieter Flesch-Janys Henrik Flyger Marike Gabrielson Manuela Gago-Dominguez Eva Galle Susan M Gapstur Montserrat García-Closas José A García-Sáenz Mia M Gaudet Angela George Vassilios Georgoulias Graham G Giles Gord Glendon David E Goldgar Anna González-Neira Grethe I Grenaker Alnæs Mervi Grip Pascal Guénel Lothar Haeberle Eric Hahnen Christopher A Haiman Niclas Håkansson Per Hall Ute Hamann Susan Hankinson Elaine F Harkness Patricia A Harrington Steven N Hart Jaana M Hartikainen Alexander Hein Peter Hillemanns Louise Hiller Bernd Holleczek Antoinette Hollestelle Maartje J Hooning Robert N Hoover John L Hopper Anthony Howell Guanmengqian Huang Keith Humphreys David J Hunter Wolfgang Janni Esther M John Michael E Jones Arja Jukkola-Vuorinen Audrey Jung Rudolf Kaaks Maria Kabisch Katarzyna Kaczmarek Michael J Kerin Sofia Khan Elza Khusnutdinova Johanna I Kiiski Cari M Kitahara Julia A Knight Yon-Dschun Ko Linetta B Koppert Veli-Matti Kosma Peter Kraft Vessela N Kristensen Ute Krüger Tabea Kühl Diether Lambrechts Loic Le Marchand Eunjung Lee Flavio Lejbkowicz Lian Li Annika Lindblom Sara Lindström Martha Linet Jolanta Lissowska Wing-Yee Lo Sibylle Loibl Jan Lubiński Michael P Lux Robert J MacInnis Melanie Maierthaler Tom Maishman Enes Makalic Arto Mannermaa Mehdi Manoochehri Siranoush Manoukian Sara Margolin Maria Elena Martinez Dimitrios Mavroudis Catriona McLean Alfons Meindl Pooja Middha Nicola Miller Roger L Milne Fernando Moreno Anna Marie Mulligan Claire Mulot Rami Nassir Susan L Neuhausen William T Newman Sune F Nielsen Børge G Nordestgaard Aaron Norman Håkan Olsson Nick Orr V Shane Pankratz Tjoung-Won Park-Simon Jose I A Perez Clara Pérez-Barrios Paolo Peterlongo Christos Petridis Mila Pinchev Karoliona Prajzendanc Ross Prentice Nadege Presneau Darya Prokofieva Katri Pylkäs Brigitte Rack Paolo Radice Dhanya Ramachandran Gadi Rennert Hedy S Rennert Valerie Rhenius Atocha Romero Rebecca Roylance Emmanouil Saloustros Elinor J Sawyer Daniel F Schmidt Rita K Schmutzler Andreas Schneeweiss Minouk J Schoemaker Fredrick Schumacher Lukas Schwentner Rodney J Scott Christopher Scott Caroline Seynaeve Mitul Shah Jacques Simard Ann Smeets Christof Sohn Melissa C Southey Anthony J Swerdlow Aline Talhouk Rulla M Tamimi William J Tapper Manuel R Teixeira Maria Tengström Mary Beth Terry Kathrin Thöne Rob A E M Tollenaar Ian Tomlinson Diana Torres Thérèse Truong Constance Turman Clare Turnbull Hans-Ulrich Ulmer Michael Untch Celine Vachon Christi J van Asperen Ans M W van den Ouweland Elke M van Veen Camilla Wendt Alice S Whittemore Walter Willett Robert Winqvist Alicja Wolk Xiaohong R Yang Yan Zhang Douglas F Easton Peter A Fasching Heli Nevanlinna Diana M Eccles Paul D P Pharoah Marjanka K Schmidt

Br J Cancer 2019 Mar 21;120(6):647-657. Epub 2019 Feb 21.

The Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Division of Molecular Pathology, Amsterdam, The Netherlands.

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http://www.nature.com/articles/s41416-019-0393-x
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http://dx.doi.org/10.1038/s41416-019-0393-xDOI Listing
March 2019

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.

Authors:
Nasim Mavaddat Kyriaki Michailidou Joe Dennis Michael Lush Laura Fachal Andrew Lee Jonathan P Tyrer Ting-Huei Chen Qin Wang Manjeet K Bolla Xin Yang Muriel A Adank Thomas Ahearn Kristiina Aittomäki Jamie Allen Irene L Andrulis Hoda Anton-Culver Natalia N Antonenkova Volker Arndt Kristan J Aronson Paul L Auer Päivi Auvinen Myrto Barrdahl Laura E Beane Freeman Matthias W Beckmann Sabine Behrens Javier Benitez Marina Bermisheva Leslie Bernstein Carl Blomqvist Natalia V Bogdanova Stig E Bojesen Bernardo Bonanni Anne-Lise Børresen-Dale Hiltrud Brauch Michael Bremer Hermann Brenner Adam Brentnall Ian W Brock Angela Brooks-Wilson Sara Y Brucker Thomas Brüning Barbara Burwinkel Daniele Campa Brian D Carter Jose E Castelao Stephen J Chanock Rowan Chlebowski Hans Christiansen Christine L Clarke J Margriet Collée Emilie Cordina-Duverger Sten Cornelissen Fergus J Couch Angela Cox Simon S Cross Kamila Czene Mary B Daly Peter Devilee Thilo Dörk Isabel Dos-Santos-Silva Martine Dumont Lorraine Durcan Miriam Dwek Diana M Eccles Arif B Ekici A Heather Eliassen Carolina Ellberg Christoph Engel Mikael Eriksson D Gareth Evans Peter A Fasching Jonine Figueroa Olivia Fletcher Henrik Flyger Asta Försti Lin Fritschi Marike Gabrielson Manuela Gago-Dominguez Susan M Gapstur José A García-Sáenz Mia M Gaudet Vassilios Georgoulias Graham G Giles Irina R Gilyazova Gord Glendon Mark S Goldberg David E Goldgar Anna González-Neira Grethe I Grenaker Alnæs Mervi Grip Jacek Gronwald Anne Grundy Pascal Guénel Lothar Haeberle Eric Hahnen Christopher A Haiman Niclas Håkansson Ute Hamann Susan E Hankinson Elaine F Harkness Steven N Hart Wei He Alexander Hein Jane Heyworth Peter Hillemanns Antoinette Hollestelle Maartje J Hooning Robert N Hoover John L Hopper Anthony Howell Guanmengqian Huang Keith Humphreys David J Hunter Milena Jakimovska Anna Jakubowska Wolfgang Janni Esther M John Nichola Johnson Michael E Jones Arja Jukkola-Vuorinen Audrey Jung Rudolf Kaaks Katarzyna Kaczmarek Vesa Kataja Renske Keeman Michael J Kerin Elza Khusnutdinova Johanna I Kiiski Julia A Knight Yon-Dschun Ko Veli-Matti Kosma Stella Koutros Vessela N Kristensen Ute Krüger Tabea Kühl Diether Lambrechts Loic Le Marchand Eunjung Lee Flavio Lejbkowicz Jenna Lilyquist Annika Lindblom Sara Lindström Jolanta Lissowska Wing-Yee Lo Sibylle Loibl Jirong Long Jan Lubiński Michael P Lux Robert J MacInnis Tom Maishman Enes Makalic Ivana Maleva Kostovska Arto Mannermaa Siranoush Manoukian Sara Margolin John W M Martens Maria Elena Martinez Dimitrios Mavroudis Catriona McLean Alfons Meindl Usha Menon Pooja Middha Nicola Miller Fernando Moreno Anna Marie Mulligan Claire Mulot Victor M Muñoz-Garzon Susan L Neuhausen Heli Nevanlinna Patrick Neven William G Newman Sune F Nielsen Børge G Nordestgaard Aaron Norman Kenneth Offit Janet E Olson Håkan Olsson Nick Orr V Shane Pankratz Tjoung-Won Park-Simon Jose I A Perez Clara Pérez-Barrios Paolo Peterlongo Julian Peto Mila Pinchev Dijana Plaseska-Karanfilska Eric C Polley Ross Prentice Nadege Presneau Darya Prokofyeva Kristen Purrington Katri Pylkäs Brigitte Rack Paolo Radice Rohini Rau-Murthy Gad Rennert Hedy S Rennert Valerie Rhenius Mark Robson Atocha Romero Kathryn J Ruddy Matthias Ruebner Emmanouil Saloustros Dale P Sandler Elinor J Sawyer Daniel F Schmidt Rita K Schmutzler Andreas Schneeweiss Minouk J Schoemaker Fredrick Schumacher Peter Schürmann Lukas Schwentner Christopher Scott Rodney J Scott Caroline Seynaeve Mitul Shah Mark E Sherman Martha J Shrubsole Xiao-Ou Shu Susan Slager Ann Smeets Christof Sohn Penny Soucy Melissa C Southey John J Spinelli Christa Stegmaier Jennifer Stone Anthony J Swerdlow Rulla M Tamimi William J Tapper Jack A Taylor Mary Beth Terry Kathrin Thöne Rob A E M Tollenaar Ian Tomlinson Thérèse Truong Maria Tzardi Hans-Ulrich Ulmer Michael Untch Celine M Vachon Elke M van Veen Joseph Vijai Clarice R Weinberg Camilla Wendt Alice S Whittemore Hans Wildiers Walter Willett Robert Winqvist Alicja Wolk Xiaohong R Yang Drakoulis Yannoukakos Yan Zhang Wei Zheng Argyrios Ziogas Alison M Dunning Deborah J Thompson Georgia Chenevix-Trench Jenny Chang-Claude Marjanka K Schmidt Per Hall Roger L Milne Paul D P Pharoah Antonis C Antoniou Nilanjan Chatterjee Peter Kraft Montserrat García-Closas Jacques Simard Douglas F Easton

Am J Hum Genet 2019 Jan 13;104(1):21-34. Epub 2018 Dec 13.

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

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183040
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http://dx.doi.org/10.1016/j.ajhg.2018.11.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323553PMC
January 2019

A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer.

Authors:
Lang Wu Wei Shi Jirong Long Xingyi Guo Kyriaki Michailidou Jonathan Beesley Manjeet K Bolla Xiao-Ou Shu Yingchang Lu Qiuyin Cai Fares Al-Ejeh Esdy Rozali Qin Wang Joe Dennis Bingshan Li Chenjie Zeng Helian Feng Alexander Gusev Richard T Barfield Irene L Andrulis Hoda Anton-Culver Volker Arndt Kristan J Aronson Paul L Auer Myrto Barrdahl Caroline Baynes Matthias W Beckmann Javier Benitez Marina Bermisheva Carl Blomqvist Natalia V Bogdanova Stig E Bojesen Hiltrud Brauch Hermann Brenner Louise Brinton Per Broberg Sara Y Brucker Barbara Burwinkel Trinidad Caldés Federico Canzian Brian D Carter J Esteban Castelao Jenny Chang-Claude Xiaoqing Chen Ting-Yuan David Cheng Hans Christiansen Christine L Clarke Margriet Collée Sten Cornelissen Fergus J Couch David Cox Angela Cox Simon S Cross Julie M Cunningham Kamila Czene Mary B Daly Peter Devilee Kimberly F Doheny Thilo Dörk Isabel Dos-Santos-Silva Martine Dumont Miriam Dwek Diana M Eccles Ursula Eilber A Heather Eliassen Christoph Engel Mikael Eriksson Laura Fachal Peter A Fasching Jonine Figueroa Dieter Flesch-Janys Olivia Fletcher Henrik Flyger Lin Fritschi Marike Gabrielson Manuela Gago-Dominguez Susan M Gapstur Montserrat García-Closas Mia M Gaudet Maya Ghoussaini Graham G Giles Mark S Goldberg David E Goldgar Anna González-Neira Pascal Guénel Eric Hahnen Christopher A Haiman Niclas Håkansson Per Hall Emily Hallberg Ute Hamann Patricia Harrington Alexander Hein Belynda Hicks Peter Hillemanns Antoinette Hollestelle Robert N Hoover John L Hopper Guanmengqian Huang Keith Humphreys David J Hunter Anna Jakubowska Wolfgang Janni Esther M John Nichola Johnson Kristine Jones Michael E Jones Audrey Jung Rudolf Kaaks Michael J Kerin Elza Khusnutdinova Veli-Matti Kosma Vessela N Kristensen Diether Lambrechts Loic Le Marchand Jingmei Li Sara Lindström Jolanta Lissowska Wing-Yee Lo Sibylle Loibl Jan Lubinski Craig Luccarini Michael P Lux Robert J MacInnis Tom Maishman Ivana Maleva Kostovska Arto Mannermaa JoAnn E Manson Sara Margolin Dimitrios Mavroudis Hanne Meijers-Heijboer Alfons Meindl Usha Menon Jeffery Meyer Anna Marie Mulligan Susan L Neuhausen Heli Nevanlinna Patrick Neven Sune F Nielsen Børge G Nordestgaard Olufunmilayo I Olopade Janet E Olson Håkan Olsson Paolo Peterlongo Julian Peto Dijana Plaseska-Karanfilska Ross Prentice Nadege Presneau Katri Pylkäs Brigitte Rack Paolo Radice Nazneen Rahman Gad Rennert Hedy S Rennert Valerie Rhenius Atocha Romero Jane Romm Anja Rudolph Emmanouil Saloustros Dale P Sandler Elinor J Sawyer Marjanka K Schmidt Rita K Schmutzler Andreas Schneeweiss Rodney J Scott Christopher G Scott Sheila Seal Mitul Shah Martha J Shrubsole Ann Smeets Melissa C Southey John J Spinelli Jennifer Stone Harald Surowy Anthony J Swerdlow Rulla M Tamimi William Tapper Jack A Taylor Mary Beth Terry Daniel C Tessier Abigail Thomas Kathrin Thöne Rob A E M Tollenaar Diana Torres Thérèse Truong Michael Untch Celine Vachon David Van Den Berg Daniel Vincent Quinten Waisfisz Clarice R Weinberg Camilla Wendt Alice S Whittemore Hans Wildiers Walter C Willett Robert Winqvist Alicja Wolk Lucy Xia Xiaohong R Yang Argyrios Ziogas Elad Ziv Alison M Dunning Paul D P Pharoah Jacques Simard Roger L Milne Stacey L Edwards Peter Kraft Douglas F Easton Georgia Chenevix-Trench Wei Zheng

Nat Genet 2018 07 18;50(7):968-978. Epub 2018 Jun 18.

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

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http://dx.doi.org/10.1038/s41588-018-0132-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6314198PMC
July 2018

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

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

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

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

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

Non-small cell neuroendocrine carcinoma of the ovary in a -germline mutation carrier: A case report and brief review of the literature.

Oncol Lett 2018 Apr 22;15(4):4093-4096. Epub 2018 Jan 22.

Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology, Medical Faculty, University Hospital of Cologne, D-50931 Cologne, Germany.

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http://dx.doi.org/10.3892/ol.2018.7836DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5835890PMC
April 2018

Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics.

BMC Med Genomics 2018 03 27;11(1):35. Epub 2018 Mar 27.

Center for Familial Breast and Ovarian Cancer, Center for Integated Oncology (CIO), Medical Faculty, University Hospital Cologne, Kerpener Straße 34, Cologne, 50931, Germany.

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http://dx.doi.org/10.1186/s12920-018-0353-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5870501PMC
March 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

Association analysis identifies 65 new breast cancer risk loci.

Authors:
Kyriaki Michailidou Sara Lindström Joe Dennis Jonathan Beesley Shirley Hui Siddhartha Kar Audrey Lemaçon Penny Soucy Dylan Glubb Asha Rostamianfar Manjeet K Bolla Qin Wang Jonathan Tyrer Ed Dicks Andrew Lee Zhaoming Wang Jamie Allen Renske Keeman Ursula Eilber Juliet D French Xiao Qing Chen Laura Fachal Karen McCue Amy E McCart Reed Maya Ghoussaini Jason S Carroll Xia Jiang Hilary Finucane Marcia Adams Muriel A Adank Habibul Ahsan Kristiina Aittomäki Hoda Anton-Culver Natalia N Antonenkova Volker Arndt Kristan J Aronson Banu Arun Paul L Auer François Bacot Myrto Barrdahl Caroline Baynes Matthias W Beckmann Sabine Behrens Javier Benitez Marina Bermisheva Leslie Bernstein Carl Blomqvist Natalia V Bogdanova Stig E Bojesen Bernardo Bonanni Anne-Lise Børresen-Dale Judith S Brand Hiltrud Brauch Paul Brennan Hermann Brenner Louise Brinton Per Broberg Ian W Brock Annegien Broeks Angela Brooks-Wilson Sara Y Brucker Thomas Brüning Barbara Burwinkel Katja Butterbach Qiuyin Cai Hui Cai Trinidad Caldés Federico Canzian Angel Carracedo Brian D Carter Jose E Castelao Tsun L Chan Ting-Yuan David Cheng Kee Seng Chia Ji-Yeob Choi Hans Christiansen Christine L Clarke Margriet Collée Don M Conroy Emilie Cordina-Duverger Sten Cornelissen David G Cox Angela Cox Simon S Cross Julie M Cunningham Kamila Czene Mary B Daly Peter Devilee Kimberly F Doheny Thilo Dörk Isabel Dos-Santos-Silva Martine Dumont Lorraine Durcan Miriam Dwek Diana M Eccles Arif B Ekici A Heather Eliassen Carolina Ellberg Mingajeva Elvira Christoph Engel Mikael Eriksson Peter A Fasching Jonine Figueroa Dieter Flesch-Janys Olivia Fletcher Henrik Flyger Lin Fritschi Valerie Gaborieau Marike Gabrielson Manuela Gago-Dominguez Yu-Tang Gao Susan M Gapstur José A García-Sáenz Mia M Gaudet Vassilios Georgoulias Graham G Giles Gord Glendon Mark S Goldberg David E Goldgar Anna González-Neira Grethe I Grenaker Alnæs Mervi Grip Jacek Gronwald Anne Grundy Pascal Guénel Lothar Haeberle Eric Hahnen Christopher A Haiman Niclas Håkansson Ute Hamann Nathalie Hamel Susan Hankinson Patricia Harrington Steven N Hart Jaana M Hartikainen Mikael Hartman Alexander Hein Jane Heyworth Belynda Hicks Peter Hillemanns Dona N Ho Antoinette Hollestelle Maartje J Hooning Robert N Hoover John L Hopper Ming-Feng Hou Chia-Ni Hsiung Guanmengqian Huang Keith Humphreys Junko Ishiguro Hidemi Ito Motoki Iwasaki Hiroji Iwata Anna Jakubowska Wolfgang Janni Esther M John Nichola Johnson Kristine Jones Michael Jones Arja Jukkola-Vuorinen Rudolf Kaaks Maria Kabisch Katarzyna Kaczmarek Daehee Kang Yoshio Kasuga Michael J Kerin Sofia Khan Elza Khusnutdinova Johanna I Kiiski Sung-Won Kim Julia A Knight Veli-Matti Kosma Vessela N Kristensen Ute Krüger Ava Kwong Diether Lambrechts Loic Le Marchand Eunjung Lee Min Hyuk Lee Jong Won Lee Chuen Neng Lee Flavio Lejbkowicz Jingmei Li Jenna Lilyquist Annika Lindblom Jolanta Lissowska Wing-Yee Lo Sibylle Loibl Jirong Long Artitaya Lophatananon Jan Lubinski Craig Luccarini Michael P Lux Edmond S K Ma Robert J MacInnis Tom Maishman Enes Makalic Kathleen E Malone Ivana Maleva Kostovska Arto Mannermaa Siranoush Manoukian JoAnn E Manson Sara Margolin Shivaani Mariapun Maria Elena Martinez Keitaro Matsuo Dimitrios Mavroudis James McKay Catriona McLean Hanne Meijers-Heijboer Alfons Meindl Primitiva Menéndez Usha Menon Jeffery Meyer Hui Miao Nicola Miller Nur Aishah Mohd Taib Kenneth Muir Anna Marie Mulligan Claire Mulot Susan L Neuhausen Heli Nevanlinna Patrick Neven Sune F Nielsen Dong-Young Noh Børge G Nordestgaard Aaron Norman Olufunmilayo I Olopade Janet E Olson Håkan Olsson Curtis Olswold Nick Orr V Shane Pankratz Sue K Park Tjoung-Won Park-Simon Rachel Lloyd Jose I A Perez Paolo Peterlongo Julian Peto Kelly-Anne Phillips Mila Pinchev Dijana Plaseska-Karanfilska Ross Prentice Nadege Presneau Darya Prokofyeva Elizabeth Pugh Katri Pylkäs Brigitte Rack Paolo Radice Nazneen Rahman Gadi Rennert Hedy S Rennert Valerie Rhenius Atocha Romero Jane Romm Kathryn J Ruddy Thomas Rüdiger Anja Rudolph Matthias Ruebner Emiel J T Rutgers Emmanouil Saloustros Dale P Sandler Suleeporn Sangrajrang Elinor J Sawyer Daniel F Schmidt Rita K Schmutzler Andreas Schneeweiss Minouk J Schoemaker Fredrick Schumacher Peter Schürmann Rodney J Scott Christopher Scott Sheila Seal Caroline Seynaeve Mitul Shah Priyanka Sharma Chen-Yang Shen Grace Sheng Mark E Sherman Martha J Shrubsole Xiao-Ou Shu Ann Smeets Christof Sohn Melissa C Southey John J Spinelli Christa Stegmaier Sarah Stewart-Brown Jennifer Stone Daniel O Stram Harald Surowy Anthony Swerdlow Rulla Tamimi Jack A Taylor Maria Tengström Soo H Teo Mary Beth Terry Daniel C Tessier Somchai Thanasitthichai Kathrin Thöne Rob A E M Tollenaar Ian Tomlinson Ling Tong Diana Torres Thérèse Truong Chiu-Chen Tseng Shoichiro Tsugane Hans-Ulrich Ulmer Giske Ursin Michael Untch Celine Vachon Christi J van Asperen David Van Den Berg Ans M W van den Ouweland Lizet van der Kolk Rob B van der Luijt Daniel Vincent Jason Vollenweider Quinten Waisfisz Shan Wang-Gohrke Clarice R Weinberg Camilla Wendt Alice S Whittemore Hans Wildiers Walter Willett Robert Winqvist Alicja Wolk Anna H Wu Lucy Xia Taiki Yamaji Xiaohong R Yang Cheng Har Yip Keun-Young Yoo Jyh-Cherng Yu Wei Zheng Ying Zheng Bin Zhu Argyrios Ziogas Elad Ziv Sunil R Lakhani Antonis C Antoniou Arnaud Droit Irene L Andrulis Christopher I Amos Fergus J Couch Paul D P Pharoah Jenny Chang-Claude Per Hall David J Hunter Roger L Milne Montserrat García-Closas Marjanka K Schmidt Stephen J Chanock Alison M Dunning Stacey L Edwards Gary D Bader Georgia Chenevix-Trench Jacques Simard Peter Kraft Douglas F Easton

Nature 2017 11 23;551(7678):92-94. Epub 2017 Oct 23.

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/nature24284DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5798588PMC
November 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 RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer.

Eur J Cancer Prev 2017 03;26(2):165-169

aCenter for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty bCenter for Molecular Medicine Cologne (CMMC) cCologne Center for Genomics dInstitute for Human Genetics eCologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne fDepartment of Gynecology and Obstetrics, University Clinics of Münster, Münster gDepartment of Genomics, Life & Brain Center, University of Bonn, Bonn hDepartment of Gynaecology and Obstetrics, Klinikum rechts der Isar at the Technical University, Munich, Germany.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/CEJ.0000000000000240DOI Listing
March 2017

Germline Mutations in Triple-Negative Breast Cancer.

Breast Care (Basel) 2017 Mar 24;12(1):15-19. Epub 2017 Feb 24.

Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.

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http://dx.doi.org/10.1159/000455999DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5465748PMC
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://dx.doi.org/10.1007/s10549-016-4018-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5222911PMC
January 2017

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

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

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

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

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

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

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

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

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://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352262PMC
December 2014

A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.

PLoS One 2013 4;8(10):e76414. Epub 2013 Oct 4.

Institute of Human Genetics, University of Cologne, Cologne, Germany ; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany ; Center of Familial Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3790679PMC
May 2014

Deep sequencing reveals increased DNA methylation in chronic rat epilepsy.

Acta Neuropathol 2013 Nov 5;126(5):741-56. Epub 2013 Sep 5.

Department of Neuropathology, University Hospital Erlangen, Schwabachanlage 6, 91054, Erlangen, Germany,

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http://dx.doi.org/10.1007/s00401-013-1168-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3825532PMC
November 2013

PPAR Gamma Activators: Off-Target Against Glioma Cell Migration and Brain Invasion.

PPAR Res 2008 ;2008:513943

Institute of Human Genetics, Institute of Genetics, and Center for Molecular Medicine Cologne (CMMC), University of Cologne, Kerpener Street 34, 50931 Cologne, Germany.

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http://dx.doi.org/10.1155/2008/513943DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2542841PMC
July 2011

Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy.

Hum Mol Genet 2010 May 23;19(10):2005-14. Epub 2010 Feb 23.

Neurometabolic Disease Lab, Institut of Neuropathology, Institut d'Investigació Biomèdica de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain.

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http://dx.doi.org/10.1093/hmg/ddq082DOI Listing
May 2010

SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy.

Hum Mol Genet 2010 Apr 22;19(8):1492-506. Epub 2010 Jan 22.

Institute of Human Genetics, University of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1093/hmg/ddq023DOI Listing
April 2010

Cellular characterization of the peritumoral edema zone in malignant brain tumors.

Cancer Sci 2009 Oct 24;100(10):1856-62. Epub 2009 Jul 24.

Department of Neuroradiology, University of Erlangen-Nuremberg, Erlangen, Germany.

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http://dx.doi.org/10.1111/j.1349-7006.2009.01259.xDOI Listing
October 2009

Spontaneous in vitro transformation of adult neural precursors into stem-like cancer cells.

Brain Pathol 2009 Jul 10;19(3):399-408. Epub 2008 Jul 10.

Department of Neuropathology. Franz-Penzoldt-Center, University of Erlangen-Nuremberg, Nuremberg, Germany.

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http://dx.doi.org/10.1111/j.1750-3639.2008.00189.xDOI Listing
July 2009

Small interfering RNA-mediated xCT silencing in gliomas inhibits neurodegeneration and alleviates brain edema.

Nat Med 2008 Jun 11;14(6):629-32. Epub 2008 May 11.

Brain Research Institute, Swiss Federal Institute of Technology & University Zurich, Winterthurerstrasse 190, CH-8057 Zurich, Switzerland.

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http://dx.doi.org/10.1038/nm1772DOI Listing
June 2008

Histone deacetylase inhibitors: possible implications for neurodegenerative disorders.

Expert Opin Investig Drugs 2008 Feb;17(2):169-84

Institute of Human Genetics, Institute of Genetics, University of Cologne, 50931 Cologne, Germany.

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February 2008

Histone deacetylase inhibitors increase neuronal differentiation in adult forebrain precursor cells.

Exp Brain Res 2007 Feb 10;176(4):672-8. Epub 2007 Jan 10.

Department of Neuropathology, University of Erlangen-Nuremberg, Krankenhausstr. 8-10, 91054, Erlangen, Germany.

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http://dx.doi.org/10.1007/s00221-006-0831-xDOI Listing
February 2007

Spinal muscular atrophy and therapeutic prospects.

Prog Mol Subcell Biol 2006 ;44:109-32

Institute of Human Genetics, Institute of Genetics, and Center for Molecular Medicine Cologne, University of Cologne, Kerpener Str. 34, 50931 Cologne, Germany.

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January 2007

The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells.

Hum Genet 2006 Aug 25;120(1):101-10. Epub 2006 May 25.

Institute of Human Genetics, Institute of Genetics, and Center for Molecular Medicine Cologne, University of Cologne, Kerpener Str. 34, 50931 Cologne, Germany.

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http://link.springer.com/10.1007/s00439-006-0186-1
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August 2006

Ex vivo therapy of malignant melanomas transplanted into organotypic brain slice cultures using inhibitors of histone deacetylases.

Acta Neuropathol 2006 Aug 14;112(2):205-15. Epub 2006 Jun 14.

Department of Neuropathology, University of Erlangen-Nuremberg, Krankenhausstr. 8-10, 91054, Erlangen, Germany.

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http://link.springer.com/10.1007/s00401-006-0082-8
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August 2006

Spinal muscular atrophy: from gene to therapy.

Semin Pediatr Neurol 2006 Jun;13(2):121-31

Institute of Human Genetics, Institute of Genetics and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.

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http://linkinghub.elsevier.com/retrieve/pii/S107190910600098
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http://dx.doi.org/10.1016/j.spen.2006.06.008DOI Listing
June 2006

Experimental therapy of malignant gliomas using the inhibitor of histone deacetylase MS-275.

Mol Cancer Ther 2006 May;5(5):1248-55

Department of Neurosurgery, University of Erlangen-Nuremberg, Schwabachanlage 6, 91054 Erlangen, Germany.

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http://dx.doi.org/10.1158/1535-7163.MCT-05-0533DOI Listing
May 2006

Abundant hypermethylation of SOCS-1 in clinically silent pituitary adenomas.

Acta Neuropathol 2006 Mar 19;111(3):264-71. Epub 2006 Jan 19.

Department of Neuropathology, Friedrich-Alexander University of Erlangen-Nuremberg, Krankenhausstrasse 8-10, 91054, Erlangen, Germany.

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http://link.springer.com/10.1007/s00401-005-0009-9
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http://dx.doi.org/10.1007/s00401-005-0009-9DOI Listing
March 2006

Common mutations of beta-catenin in adamantinomatous craniopharyngiomas but not in other tumours originating from the sellar region.

Acta Neuropathol 2005 Jun 13;109(6):589-97. Epub 2005 May 13.

Department of Neuropathology, Friedrich-Alexander University Erlangen-Nuremberg, Krankenhausstrasse 8-10, 91054, Erlangen, Germany.

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http://dx.doi.org/10.1007/s00401-005-1004-xDOI Listing
June 2005

Malignant glioma-induced neuronal cell death in an organotypic glioma invasion model. Technical note.

J Neurosurg 2005 Apr;102(4):738-44

Department of Neurosurgery, University of Erlangen-Nuremberg Department of Neuropathology, University of Erlangen-Nuremberg, Erlangen, Germany.

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April 2005