Lidia Feliubadalo

Lidia Feliubadalo

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Lidia Feliubadalo

Lidia Feliubadalo

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

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

Br J Cancer 2019 Jul 19;121(2):180-192. Epub 2019 Jun 19.

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

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http://dx.doi.org/10.1038/s41416-019-0492-8DOI Listing
July 2019

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

Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val).

Breast Cancer Res Treat 2018 Nov 13;172(2):497-503. Epub 2018 Aug 13.

Molecular Diagnostic Unit, Hereditary Cancer and Ocobell Programs, IDIBELL, Catalan Institute of Oncology, Barcelona, Spain.

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http://dx.doi.org/10.1007/s10549-018-4903-yDOI Listing
November 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

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

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

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

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

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

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

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

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

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

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

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

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

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

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0158801PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4963094PMC
July 2017

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

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

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

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

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

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

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

Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA.

Breast Cancer Res Treat 2016 Jan 16;155(2):253-60. Epub 2016 Jan 16.

Hereditary Cancer Program, Molecular Diagnostics Unit, Catalan Institute of Oncology (ICO-IDIBELL), Hospital Duran i Reynals, Gran Via 199, L'Hospitalet de Llobregat, 08908, Barcelona, Spain.

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http://dx.doi.org/10.1007/s10549-015-3676-9DOI Listing
January 2016

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers.

Authors:
Ignacio Blanco Karoline Kuchenbaecker Daniel Cuadras Xianshu Wang Daniel Barrowdale Gorka Ruiz de Garibay Pablo Librado Alejandro Sánchez-Gracia Julio Rozas Núria Bonifaci Lesley McGuffog Vernon S Pankratz Abul Islam Francesca Mateo Antoni Berenguer Anna Petit Isabel Català Joan Brunet Lidia Feliubadaló Eva Tornero Javier Benítez Ana Osorio Teresa Ramón y Cajal Heli Nevanlinna Kristiina Aittomäki Banu K Arun Amanda E Toland Beth Y Karlan Christine Walsh Jenny Lester Mark H Greene Phuong L Mai Robert L Nussbaum Irene L Andrulis Susan M Domchek Katherine L Nathanson Timothy R Rebbeck Rosa B Barkardottir Anna Jakubowska Jan Lubinski Katarzyna Durda Katarzyna Jaworska-Bieniek Kathleen Claes Tom Van Maerken Orland Díez Thomas V Hansen Lars Jønson Anne-Marie Gerdes Bent Ejlertsen Miguel de la Hoya Trinidad Caldés Alison M Dunning Clare Oliver Elena Fineberg Margaret Cook Susan Peock Emma McCann Alex Murray Chris Jacobs Gabriella Pichert Fiona Lalloo Carol Chu Huw Dorkins Joan Paterson Kai-Ren Ong Manuel R Teixeira Frans B L Hogervorst Annemarie H van der Hout Caroline Seynaeve Rob B van der Luijt Marjolijn J L Ligtenberg Peter Devilee Juul T Wijnen Matti A Rookus Hanne E J Meijers-Heijboer Marinus J Blok Ans M W van den Ouweland Cora M Aalfs Gustavo C Rodriguez Kelly-Anne A Phillips Marion Piedmonte Stacy R Nerenstone Victoria L Bae-Jump David M O'Malley Elena S Ratner Rita K Schmutzler Barbara Wappenschmidt Kerstin Rhiem Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Hansjoerg J Plendl Dieter Niederacher Christian Sutter Shan Wang-Gohrke Doris Steinemann Sabine Preisler-Adams Karin Kast Raymonda Varon-Mateeva Andrea Gehrig Anders Bojesen Inge Sokilde Pedersen Lone Sunde Uffe Birk Jensen Mads Thomassen Torben A Kruse Lenka Foretova Paolo Peterlongo Loris Bernard Bernard Peissel Giulietta Scuvera Siranoush Manoukian Paolo Radice Laura Ottini Marco Montagna Simona Agata Christine Maugard Jacques Simard Penny Soucy Andreas Berger Anneliese Fink-Retter Christian F Singer Christine Rappaport Daphne Geschwantler-Kaulich Muy-Kheng Tea Georg Pfeiler Esther M John Alex Miron Susan L Neuhausen Mary Beth Terry Wendy K Chung Mary B Daly David E Goldgar Ramunas Janavicius Cecilia M Dorfling Elisabeth J van Rensburg Florentia Fostira Irene Konstantopoulou Judy Garber Andrew K Godwin Edith Olah Steven A Narod Gad Rennert Shani Shimon Paluch Yael Laitman Eitan Friedman Annelie Liljegren Johanna Rantala Marie Stenmark-Askmalm Niklas Loman Evgeny N Imyanitov Ute Hamann Amanda B Spurdle Sue Healey Jeffrey N Weitzel Josef Herzog David Margileth Chiara Gorrini Manel Esteller Antonio Gómez Sergi Sayols Enrique Vidal Holger Heyn Dominique Stoppa-Lyonnet Melanie Léoné Laure Barjhoux Marion Fassy-Colcombet Antoine de Pauw Christine Lasset Sandra Fert Ferrer Laurent Castera Pascaline Berthet François Cornelis Yves-Jean Bignon Francesca Damiola Sylvie Mazoyer Olga M Sinilnikova Christopher A Maxwell Joseph Vijai Mark Robson Noah Kauff Marina J Corines Danylko Villano Julie Cunningham Adam Lee Noralane Lindor Conxi Lázaro Douglas F Easton Kenneth Offit Georgia Chenevix-Trench Fergus J Couch Antonis C Antoniou Miguel Angel Pujana

PLoS One 2015 1;10(4):e0120020. Epub 2015 Apr 1.

Breast Cancer and Systems Biology Unit, Catalan Institute of Oncology (ICO), Bellvitge Institute for Biomedical Research (IDIBELL), L'Hospitalet del Llobregat, Catalonia, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0120020PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382299PMC
December 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

Functional and structural analysis of C-terminal BRCA1 missense variants.

PLoS One 2013 17;8(4):e61302. Epub 2013 Apr 17.

Hereditary Cancer Program, Catalan Institute of Oncology-Bellvitge Institute for Biomedical Research, Girona Institute for Biomedical Research, Germans Trial i Pujol Research Institute, ICO-IDIBELL, ICO-IdIBGi, ICO-IGTP, L'Hospitalet de Llobregat, Barcelona, Spain.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3629201PMC
November 2013

Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes.

Breast Cancer Res Treat 2012 Apr 7;132(3):979-92. Epub 2011 Jul 7.

Hereditary Cancer Program, Genetic Diagnosis Unit, Laboratori de Recerca Translacional, Institut Català d'Oncologia, Hospital Duran i Reynals-Bellvitge Biomedical Research Institute, L'Hospitalet de Llobregat, Barcelona and Hospital Josep Trueta, IDIBGI, Gran Via 199-203, Girona 08908, Spain.

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April 2012

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

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

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

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

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

Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families.

BMC Cancer 2012 Mar 8;12:84. Epub 2012 Mar 8.

Hereditary Cancer Program, Catalan Institute of Oncology (ICO), Hospital Duran i Reynals, Bellvitge Institute for Biomedical Research (IDIBELL), L'Hospitalet, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1186/1471-2407-12-84DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3315397PMC
March 2012

Identification of a new complex rearrangement affecting exon 20 of BRCA1.

Breast Cancer Res Treat 2011 Nov 15;130(1):341-4. Epub 2011 Jul 15.

Hereditary Cancer Program, Institut Català d'Oncologia, Hospital Duran i Reynals - Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona and Hospital Josep Trueta, IDIBGI, Girona (JB, ED, AI and AV), Spain.

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http://link.springer.com/10.1007/s10549-011-1673-1
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November 2011

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation.

Breast Cancer Res Treat 2011 Jun 22;127(3):671-9. Epub 2010 Jul 22.

Department of Genetics, Portuguese Oncology Institute, Rua Dr. António Bernardino de Almeida, Porto 4200-072, Portugal.

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http://dx.doi.org/10.1007/s10549-010-1036-3DOI Listing
June 2011

Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes.

Breast Cancer Res Treat 2010 Aug 6;122(3):733-43. Epub 2009 Nov 6.

Programa de Diagnòstic Molecular de Càncer Hereditari, Laboratori de Recerca Translacional, Institut Català d'Oncologia-IDIBELL, Hospital Duran i Reynals, Hospitalet de Llobregat, Gran Via s/n, km 2.7, L'Hospitalet de Llobregat, 08907 Barcelona, Spain.

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http://link.springer.com/10.1007/s10549-009-0613-9
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http://dx.doi.org/10.1007/s10549-009-0613-9DOI Listing
August 2010

Slc7a9 knockout mouse is a good cystinuria model for antilithiasic pharmacological studies.

Am J Physiol Renal Physiol 2007 Sep 27;293(3):F732-40. Epub 2007 Jun 27.

Medical and Molecular Genetics Center, Institut d'Investigació Biomèdica de Bellvitge, L'Hospitalet de Llobregat, Barcelona, Spain.

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http://dx.doi.org/10.1152/ajprenal.00121.2007DOI Listing
September 2007

The genetics of heteromeric amino acid transporters.

Physiology (Bethesda) 2005 Apr;20:112-24

Department of Biochemistry and Molecular Biology, Faculty of Biology and Institut de Recerca Biomedica de Barcelona, Barcelona Science Park, University of Barcelona, Spain.

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http://www.physiology.org/doi/10.1152/physiol.00051.2004
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April 2005

Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis.

Hum Mol Genet 2003 Sep 15;12(17):2097-108. Epub 2003 Jul 15.

Centre de Genètica Mèdica i Molecular, Institut de Recerca Oncològica, Gran Via de Les Corts Catalanes s/n km 2,7, L'Hospitalet de Llobregat, Barcelona 08907, Spain.

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http://hmg.oxfordjournals.org/content/12/17/2097.full.pdf
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http://www.hmg.oupjournals.org/cgi/doi/10.1093/hmg/ddg228
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September 2003