Hans Ehrencrona

Hans Ehrencrona

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Hans Ehrencrona

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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

Hereditary colorectal cancer diagnostics in southern Sweden: retrospective evaluation and future considerations with emphasis on Lynch syndrome.

J Community Genet 2019 Apr 24;10(2):259-266. Epub 2018 Sep 24.

Department of Clinical Genetics and Pathology, Office for Medical Services, Division of Laboratory Medicine, Lund, Sweden.

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http://dx.doi.org/10.1007/s12687-018-0385-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6435770PMC
April 2019

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

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

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus.

Authors:
Kate Lawrenson Siddhartha Kar Karen McCue Karoline Kuchenbaeker Kyriaki Michailidou Jonathan Tyrer Jonathan Beesley Susan J Ramus Qiyuan Li Melissa K Delgado Janet M Lee Kristiina Aittomäki Irene L Andrulis Hoda Anton-Culver Volker Arndt Banu K Arun Brita Arver Elisa V Bandera Monica Barile Rosa B Barkardottir Daniel Barrowdale Matthias W Beckmann Javier Benitez Andrew Berchuck Maria Bisogna Line Bjorge Carl Blomqvist William Blot Natalia Bogdanova Anders Bojesen Stig E Bojesen Manjeet K Bolla Bernardo Bonanni Anne-Lise Børresen-Dale Hiltrud Brauch Paul Brennan Hermann Brenner Fiona Bruinsma Joan Brunet Shaik Ahmad Buhari Barbara Burwinkel Ralf Butzow Saundra S Buys Qiuyin Cai Trinidad Caldes Ian Campbell Rikki Canniotto Jenny Chang-Claude Jocelyne Chiquette Ji-Yeob Choi Kathleen B M Claes Linda S Cook Angela Cox Daniel W Cramer Simon S Cross Cezary Cybulski Kamila Czene Mary B Daly Francesca Damiola Agnieszka Dansonka-Mieszkowska Hatef Darabi Joe Dennis Peter Devilee Orland Diez Jennifer A Doherty Susan M Domchek Cecilia M Dorfling Thilo Dörk Martine Dumont Hans Ehrencrona Bent Ejlertsen Steve Ellis Christoph Engel Eunjung Lee D Gareth Evans Peter A Fasching Lidia Feliubadalo Jonine Figueroa Dieter Flesch-Janys Olivia Fletcher Henrik Flyger Lenka Foretova Florentia Fostira William D Foulkes Brooke L Fridley Eitan Friedman Debra Frost Gaetana Gambino Patricia A Ganz Judy Garber Montserrat García-Closas Aleksandra Gentry-Maharaj Maya Ghoussaini Graham G Giles Rosalind Glasspool Andrew K Godwin Mark S Goldberg David E Goldgar Anna González-Neira Ellen L Goode Marc T Goodman Mark H Greene Jacek Gronwald Pascal Guénel Christopher A Haiman Per Hall Emily Hallberg Ute Hamann Thomas V O Hansen Patricia A Harrington Mikael Hartman Norhashimah Hassan Sue Healey Florian Heitz Josef Herzog Estrid Høgdall Claus K Høgdall Frans B L Hogervorst Antoinette Hollestelle John L Hopper Peter J Hulick Tomasz Huzarski Evgeny N Imyanitov Claudine Isaacs Hidemi Ito Anna Jakubowska Ramunas Janavicius Allan Jensen Esther M John Nichola Johnson Maria Kabisch Daehee Kang Miroslav Kapuscinski Beth Y Karlan Sofia Khan Lambertus A Kiemeney Susanne Kruger Kjaer Julia A Knight Irene Konstantopoulou Veli-Matti Kosma Vessela Kristensen Jolanta Kupryjanczyk Ava Kwong Miguel de la Hoya Yael Laitman Diether Lambrechts Nhu Le Kim De Leeneer Jenny Lester Douglas A Levine Jingmei Li Annika Lindblom Jirong Long Artitaya Lophatananon Jennifer T Loud Karen Lu Jan Lubinski Arto Mannermaa Siranoush Manoukian Loic Le Marchand Sara Margolin Frederik Marme Leon F A G Massuger Keitaro Matsuo Sylvie Mazoyer Lesley McGuffog Catriona McLean Iain McNeish Alfons Meindl Usha Menon Arjen R Mensenkamp Roger L Milne Marco Montagna Kirsten B Moysich Kenneth Muir Anna Marie Mulligan Katherine L Nathanson Roberta B Ness Susan L Neuhausen Heli Nevanlinna Silje Nord Robert L Nussbaum Kunle Odunsi Kenneth Offit Edith Olah Olufunmilayo I Olopade Janet E Olson Curtis Olswold David O'Malley Irene Orlow Nick Orr Ana Osorio Sue Kyung Park Celeste L Pearce Tanja Pejovic Paolo Peterlongo Georg Pfeiler Catherine M Phelan Elizabeth M Poole Katri Pylkäs Paolo Radice Johanna Rantala Muhammad Usman Rashid Gad Rennert Valerie Rhenius Kerstin Rhiem Harvey A Risch Gus Rodriguez Mary Anne Rossing Anja Rudolph Helga B Salvesen Suleeporn Sangrajrang Elinor J Sawyer Joellen M Schildkraut Marjanka K Schmidt Rita K Schmutzler Thomas A Sellers Caroline Seynaeve Mitul Shah Chen-Yang Shen Xiao-Ou Shu Weiva Sieh Christian F Singer Olga M Sinilnikova Susan Slager Honglin Song Penny Soucy Melissa C Southey Marie Stenmark-Askmalm Dominique Stoppa-Lyonnet Christian Sutter Anthony Swerdlow Sandrine Tchatchou Manuel R Teixeira Soo H Teo Kathryn L Terry Mary Beth Terry Mads Thomassen Maria Grazia Tibiletti Laima Tihomirova Silvia Tognazzo Amanda Ewart Toland Ian Tomlinson Diana Torres Thérèse Truong Chiu-Chen Tseng Nadine Tung Shelley S Tworoger Celine Vachon Ans M W van den Ouweland Helena C van Doorn Elizabeth J van Rensburg Laura J Van't Veer Adriaan Vanderstichele Ignace Vergote Joseph Vijai Qin Wang Shan Wang-Gohrke Jeffrey N Weitzel Nicolas Wentzensen Alice S Whittemore Hans Wildiers Robert Winqvist Anna H Wu Drakoulis Yannoukakos Sook-Yee Yoon Jyh-Cherng Yu Wei Zheng Ying Zheng Kum Kum Khanna Jacques Simard Alvaro N Monteiro Juliet D French Fergus J Couch Matthew L Freedman Douglas F Easton Alison M Dunning Paul D Pharoah Stacey L Edwards Georgia Chenevix-Trench Antonis C Antoniou Simon A Gayther

Nat Commun 2016 09 7;7:12675. Epub 2016 Sep 7.

Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, California 90033, USA.

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http://dx.doi.org/10.1038/ncomms12675DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5023955PMC
September 2016

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

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

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

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

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

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

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

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

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

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

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer.

Authors:
Fergus J Couch Karoline B Kuchenbaecker Kyriaki Michailidou Gustavo A Mendoza-Fandino Silje Nord Janna Lilyquist Curtis Olswold Emily Hallberg Simona Agata Habibul Ahsan Kristiina Aittomäki Christine Ambrosone Irene L Andrulis Hoda Anton-Culver Volker Arndt Banu K Arun Brita Arver Monica Barile Rosa B Barkardottir Daniel Barrowdale Lars Beckmann Matthias W Beckmann Javier Benitez Stephanie V Blank Carl Blomqvist Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Bernardo Bonanni Hiltrud Brauch Hermann Brenner Barbara Burwinkel Saundra S Buys Trinidad Caldes Maria A Caligo Federico Canzian Jane Carpenter Jenny Chang-Claude Stephen J Chanock Wendy K Chung Kathleen B M Claes Angela Cox Simon S Cross Julie M Cunningham Kamila Czene Mary B Daly Francesca Damiola Hatef Darabi Miguel de la Hoya Peter Devilee Orland Diez Yuan C Ding Riccardo Dolcetti Susan M Domchek Cecilia M Dorfling Isabel Dos-Santos-Silva Martine Dumont Alison M Dunning Diana M Eccles Hans Ehrencrona Arif B Ekici Heather Eliassen Steve Ellis Peter A Fasching Jonine Figueroa Dieter Flesch-Janys Asta Försti Florentia Fostira William D Foulkes Tara Friebel Eitan Friedman Debra Frost Marike Gabrielson Marilie D Gammon Patricia A Ganz Susan M Gapstur Judy Garber Mia M Gaudet Simon A Gayther Anne-Marie Gerdes Maya Ghoussaini Graham G Giles Gord Glendon Andrew K Godwin Mark S Goldberg David E Goldgar Anna González-Neira Mark H Greene Jacek Gronwald Pascal Guénel Marc Gunter Lothar Haeberle Christopher A Haiman Ute Hamann Thomas V O Hansen Steven Hart Sue Healey Tuomas Heikkinen Brian E Henderson Josef Herzog Frans B L Hogervorst Antoinette Hollestelle Maartje J Hooning Robert N Hoover John L Hopper Keith Humphreys David J Hunter Tomasz Huzarski Evgeny N Imyanitov Claudine Isaacs Anna Jakubowska Paul James Ramunas Janavicius Uffe Birk Jensen Esther M John Michael Jones Maria Kabisch Siddhartha Kar Beth Y Karlan Sofia Khan Kay-Tee Khaw Muhammad G Kibriya Julia A Knight Yon-Dschun Ko Irene Konstantopoulou Veli-Matti Kosma Vessela Kristensen Ava Kwong Yael Laitman Diether Lambrechts Conxi Lazaro Eunjung Lee Loic Le Marchand Jenny Lester Annika Lindblom Noralane Lindor Sara Lindstrom Jianjun Liu Jirong Long Jan Lubinski Phuong L Mai Enes Makalic Kathleen E Malone Arto Mannermaa Siranoush Manoukian Sara Margolin Frederik Marme John W M Martens Lesley McGuffog Alfons Meindl Austin Miller Roger L Milne Penelope Miron Marco Montagna Sylvie Mazoyer Anna M Mulligan Taru A Muranen Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Børge G Nordestgaard Robert L Nussbaum Kenneth Offit Edith Olah Olufunmilayo I Olopade Janet E Olson Ana Osorio Sue K Park Petra H Peeters Bernard Peissel Paolo Peterlongo Julian Peto Catherine M Phelan Robert Pilarski Bruce Poppe Katri Pylkäs Paolo Radice Nazneen Rahman Johanna Rantala Christine Rappaport Gad Rennert Andrea Richardson Mark Robson Isabelle Romieu Anja Rudolph Emiel J Rutgers Maria-Jose Sanchez Regina M Santella Elinor J Sawyer Daniel F Schmidt Marjanka K Schmidt Rita K Schmutzler Fredrick Schumacher Rodney Scott Leigha Senter Priyanka Sharma Jacques Simard Christian F Singer Olga M Sinilnikova Penny Soucy Melissa Southey Doris Steinemann Marie Stenmark-Askmalm Dominique Stoppa-Lyonnet Anthony Swerdlow Csilla I Szabo Rulla Tamimi William Tapper Manuel R Teixeira Soo-Hwang Teo Mary B Terry Mads Thomassen Deborah Thompson Laima Tihomirova Amanda E Toland Robert A E M Tollenaar Ian Tomlinson Thérèse Truong Helen Tsimiklis Alex Teulé Rosario Tumino Nadine Tung Clare Turnbull Giski Ursin Carolien H M van Deurzen Elizabeth J van Rensburg Raymonda Varon-Mateeva Zhaoming Wang Shan Wang-Gohrke Elisabete Weiderpass Jeffrey N Weitzel Alice Whittemore Hans Wildiers Robert Winqvist Xiaohong R Yang Drakoulis Yannoukakos Song Yao M Pilar Zamora Wei Zheng Per Hall Peter Kraft Celine Vachon Susan Slager Georgia Chenevix-Trench Paul D P Pharoah Alvaro A N Monteiro Montserrat García-Closas Douglas F Easton Antonis C Antoniou

Nat Commun 2016 04 27;7:11375. Epub 2016 Apr 27.

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

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http://dx.doi.org/10.1038/ncomms11375DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4853421PMC
April 2016

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.

Authors:
Paolo Peterlongo Irene Catucci Mara Colombo Laura Caleca Eliseos Mucaki Massimo Bogliolo Maria Marin Francesca Damiola Loris Bernard Valeria Pensotti Sara Volorio Valentina Dall'Olio Alfons Meindl Claus Bartram Christian Sutter Harald Surowy Valérie Sornin Marie-Gabrielle Dondon Séverine Eon-Marchais Dominique Stoppa-Lyonnet Nadine Andrieu Olga M Sinilnikova Gillian Mitchell Paul A James Ella Thompson Marina Marchetti Cristina Verzeroli Carmen Tartari Gabriele Lorenzo Capone Anna Laura Putignano Maurizio Genuardi Veronica Medici Isabella Marchi Massimo Federico Silvia Tognazzo Laura Matricardi Simona Agata Riccardo Dolcetti Lara Della Puppa Giulia Cini Viviana Gismondi Valeria Viassolo Chiara Perfumo Maria Antonietta Mencarelli Margherita Baldassarri Bernard Peissel Gaia Roversi Valentina Silvestri Piera Rizzolo Francesca Spina Caterina Vivanet Maria Grazia Tibiletti Maria Adelaide Caligo Gaetana Gambino Stefania Tommasi Brunella Pilato Carlo Tondini Chiara Corna Bernardo Bonanni Monica Barile Ana Osorio Javier Benitez Luisa Balestrino Laura Ottini Siranoush Manoukian Marco A Pierotti Alessandra Renieri Liliana Varesco Fergus J Couch Xianshu Wang Peter Devilee Florentine S Hilbers Christi J van Asperen Alessandra Viel Marco Montagna Laura Cortesi Orland Diez Judith Balmaña Jan Hauke Rita K Schmutzler Laura Papi Miguel Angel Pujana Conxi Lázaro Anna Falanga Kenneth Offit Joseph Vijai Ian Campbell Barbara Burwinkel Anders Kvist Hans Ehrencrona Sylvie Mazoyer Sara Pizzamiglio Paolo Verderio Jordi Surralles Peter K Rogan Paolo Radice

Hum Mol Genet 2015 Sep 30;24(18):5345-55. Epub 2015 Jun 30.

IFOM, the FIRC Institute of Molecular Oncology, Milan, Italy, Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine.

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http://dx.doi.org/10.1093/hmg/ddv251DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4550823PMC
September 2015

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

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

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

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

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http://dx.doi.org/10.1001/jama.2014.5985DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4537700PMC
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

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

Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein.

Mol Genet Genomic Med 2014 Jul 6;2(4):352-5. Epub 2014 May 6.

Center for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen DK-2200, Copenhagen N, Denmark.

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http://dx.doi.org/10.1002/mgg3.80DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4113276PMC
July 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://dx.doi.org/10.1371/journal.pgen.1004256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3974638PMC
April 2014

Analysis of mice lacking the heparin-binding splice isoform of platelet-derived growth factor A.

Mol Cell Biol 2013 Oct 12;33(20):4030-40. Epub 2013 Aug 12.

Department of Immunology, Genetics and Pathology, Uppsala University, Rudbeck Laboratory, Uppsala, Sweden.

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http://mcb.asm.org/cgi/doi/10.1128/MCB.00749-13
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http://dx.doi.org/10.1128/MCB.00749-13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3811674PMC
October 2013

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

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

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

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

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

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

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

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

Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.

Cancer Epidemiol Biomarkers Prev 2010 Nov 26;19(11):2859-68. Epub 2010 Oct 26.

Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.

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http://dx.doi.org/10.1158/1055-9965.EPI-10-0517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3077716PMC
November 2010

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 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