Simona Agata

Simona Agata

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Simona Agata

Simona Agata

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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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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http://dx.doi.org/10.1371/journal.pgen.1003212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3609646PMC
June 2013

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

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

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

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

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http://dx.doi.org/10.1158/1055-9965.EPI-12-0229DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3415567PMC
August 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

Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

Authors:
Nasim Mavaddat Daniel Barrowdale Irene L Andrulis Susan M Domchek Diana Eccles Heli Nevanlinna Susan J Ramus Amanda Spurdle Mark Robson Mark Sherman Anna Marie Mulligan Fergus J Couch Christoph Engel Lesley McGuffog Sue Healey Olga M Sinilnikova Melissa C Southey Mary Beth Terry David Goldgar Frances O'Malley Esther M John Ramunas Janavicius Laima Tihomirova Thomas V O Hansen Finn C Nielsen Ana Osorio Alexandra Stavropoulou Javier Benítez Siranoush Manoukian Bernard Peissel Monica Barile Sara Volorio Barbara Pasini Riccardo Dolcetti Anna Laura Putignano Laura Ottini Paolo Radice Ute Hamann Muhammad U Rashid Frans B Hogervorst Mieke Kriege Rob B van der Luijt Susan Peock Debra Frost D Gareth Evans Carole Brewer Lisa Walker Mark T Rogers Lucy E Side Catherine Houghton JoEllen Weaver Andrew K Godwin Rita K Schmutzler Barbara Wappenschmidt Alfons Meindl Karin Kast Norbert Arnold Dieter Niederacher Christian Sutter Helmut Deissler Doroteha Gadzicki Sabine Preisler-Adams Raymonda Varon-Mateeva Ines Schönbuchner Heidrun Gevensleben Dominique Stoppa-Lyonnet Muriel Belotti Laure Barjhoux Claudine Isaacs Beth N Peshkin Trinidad Caldes Miguel de la Hoya Carmen Cañadas Tuomas Heikkinen Päivi Heikkilä Kristiina Aittomäki Ignacio Blanco Conxi Lazaro Joan Brunet Bjarni A Agnarsson Adalgeir Arason Rosa B Barkardottir Martine Dumont Jacques Simard Marco Montagna Simona Agata Emma D'Andrea Max Yan Stephen Fox Timothy R Rebbeck Wendy Rubinstein Nadine Tung Judy E Garber Xianshu Wang Zachary Fredericksen Vernon S Pankratz Noralane M Lindor Csilla Szabo Kenneth Offit Rita Sakr Mia M Gaudet Christian F Singer Muy-Kheng Tea Christine Rappaport Phuong L Mai Mark H Greene Anna Sokolenko Evgeny Imyanitov Amanda Ewart Toland Leigha Senter Kevin Sweet Mads Thomassen Anne-Marie Gerdes Torben Kruse Maria Caligo Paolo Aretini Johanna Rantala Anna von Wachenfeld Karin Henriksson Linda Steele Susan L Neuhausen Robert Nussbaum Mary Beattie Kunle Odunsi Lara Sucheston Simon A Gayther Kate Nathanson Jenny Gross Christine Walsh Beth Karlan Georgia Chenevix-Trench Douglas F Easton Antonis C Antoniou

Cancer Epidemiol Biomarkers Prev 2012 Jan 5;21(1):134-47. Epub 2011 Dec 5.

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

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http://dx.doi.org/10.1158/1055-9965.EPI-11-0775DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3272407PMC
January 2012

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

Functional impairment of p16(INK4A) due to CDKN2A p.Gly23Asp missense mutation.

Mutat Res 2009 Dec 25;671(1-2):26-32. Epub 2009 Aug 25.

Section of Oncology, Department of Oncology and Surgical Sciences, University of Padova, via Gattamelata, 64, I-35128 Padova, Italy.

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http://dx.doi.org/10.1016/j.mrfmmm.2009.08.007DOI Listing
December 2009

DNA copy number alterations correlate with survival of esophageal adenocarcinoma patients.

Mod Pathol 2009 Jan 26;22(1):58-65. Epub 2008 Sep 26.

Oncology Section, Department of Oncology and Surgical Sciences, University of Padova, Padova, Italy.

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http://dx.doi.org/10.1038/modpathol.2008.150DOI Listing
January 2009

Identification of BRCA1 and BRCA2 carriers by allele-specific gene expression (AGE) analysis.

Int J Cancer 2002 Apr;98(5):732-6

Department of Oncology and Surgical Sciences, Oncology Section, University of Padova, Padova, Italy.

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http://dx.doi.org/10.1002/ijc.10273DOI Listing
April 2002