Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

  title={Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk},
  author={Fergus J. Couch and Xianshu Wang and Lesley McGuffog and Andrew Lee and Curtis L Olswold and Karoline B Kuchenbaecker and Penny Soucy and Zachary S. Fredericksen and Daniel Barrowdale and Joe Dennis and Mia M Gaudet and Ed Dicks and Matthew L. Kosel and Sue Healey and Olga Sinilnikova and Adam M. Lee and François Bacot and Daniel D Vincent and Frans Hogervorst and Susan Peock and Dominique Stoppa-Lyonnet and Anna Jakubowska and kConFab investigators and Paolo Radice and Rita Katharina Schmutzler and Susan Domchek and M. Piedmonte and Christian F Singer and Eitan Friedman and Mads Thomassen and Thomas v. O. Hansen and Susan L. Neuhausen and Csilla I. Szabo and Ignacio Blanco and Mark H Greene and Beth Y. Karlan and Judy E Garber and Catherine M. Phelan and Jeffrey N. Weitzel and Marco Montagna and Edith Ol{\'a}h and Irene L Andrulis and Andrew K. Godwin and Drakoulis Yannoukakos and David E. Goldgar and Trinidad Caldes and Heli Nevanlinna and A Osorio and Mary Beth Terry and Mary B Daly and Elizabeth J van Rensburg and Ute Hamann and Susan J Ramus and Amanda Ewart Toland and Maria A Caligo and Olufunmilayo I. Olopade and Nadine Tung and Kathleen B M Claes and Mary Stanley Beattie and Melissa C. Southey and Evgeny N. Imyanitov and Marc Tischkowitz and Ramūnas Janavi{\vc}ius and Esther M John and Ava Kwong and Orland Diez and Judith Balma{\~n}{\`a} and Rosa Bj{\"o}rk Barkardottir and Banu K. Arun and Gadi Rennert and S C Teo and Patricia A. Ganz and Ian L. Campbell and Annemarie H. van der Hout and C. H. M. van Deurzen and Caroline S Seynaeve and Encarna B. G{\'o}mez Garcia and Flora E van Leeuwen and Hanne Meijers-Heijboer and Johannes J. P. Gille and Margreet G Ausems and Marinus J. Blok and Marjolijn J. L. Ligtenberg and Matti A. Rookus and Peter Devilee and Senno Verhoef and Theo AM van Os and Juul Th Wijnen and Debra Frost and Steve D Ellis and Elena Fineberg and Radka Platte and D Gareth R Evans and Louise Izatt and Rosalind A. Eeles and Julian W. Adlard and Diana Eccles and Jackie Cook and Carole Brewer and Fiona Douglas and Shirley Victoria Hodgson and Patrick John Morrison and Lucy E. Side and A. L. Donaldson and Catherine M Houghton and Mark T. Rogers and Huw R. Dorkins and Jacqueline Eason and Helen Gregory and Emma McCann and Alex Murray and Alain Calender and Agn{\`e}s Hardouin and Pascaline Berthet and Capucine Delnatte and Catherine Nogu{\'e}s and Christine Lasset and Claude Houdayer and Dominique Leroux and Etienne Rouleau and Fabienne Prieur and Francesca Damiola and Hagay Sobol and Isabelle Coupier and Laurence V{\'e}nat-Bouvet and Laurent Cast{\'e}ra and Marion Gauthier-Villars and M{\'e}lanie L{\'e}on{\'e} and Pascal Pujol and Sylvie Mazoyer and Yves-Jean Bignon and Elżbieta Złowocka-Perłowska and Jacek Gronwald and Jan A. Lubiński and Katarzyna Durda and Katarzyna Jaworska and Tomasz Huzarski and Amanda B Spurdle and Alessandra Viel and Bernard Peissel and Bernardo Bonanni and Giulia Melloni and Laura Ottini and Laura Papi and Liliana Varesco and Maria Grazia Tibiletti and Paolo Peterlongo and Sara Volorio and Siranoush Manoukian and Valeria Pensotti and Norbert Arnold and Christoph Engel and Helmut Deissler and Dorothea Gadzicki and Andrea E. Gehrig and Karin Kast and Kerstin Rhiem and Alfons Meindl and D Niederacher and Nina Ditsch and Hansjoerg J. Plendl and Sabine Preisler-Adams and Stefanie Engert and Christian Sutter and Raymonda Varon-Mateeva and Barbara Wappenschmidt and Bernhard H. F. Weber and Brita Wasteson Arver and Marie Stenmark-Askmalm and Niklas Loman and Richard Rosenquist and Zakaria Einbeigi and Katherine L Nathanson and Timothy R. Rebbeck and Stephanie V. Blank and David Cohn and Gustavo C. Rodriguez and Laurie Buccina Small and Michael Friedlander and Victoria L. Bae-Jump and Anneliese Fink-Retter and Christine F Rappaport and Daphne Gschwantler-Kaulich and Georg H Pfeiler and M M Tea and Noralane M. Lindor and Bella Kaufman and Shani Shimon Paluch and Yael Laitman and Anne-Bine S. Skytte and A Gerdes and Inge Sokilde Pedersen and Sanne Traasdahl Moeller and Torben Arvid Kruse and Uffe Birk Jensen and Joseph Vijai and Kara L. Sarrel and Mark E. Robson and Noah D. Kauff and Anna Marie Mulligan and Gordon Glendon and Hilmi Ozçelik and Bent Ejlertsen and Finn Cilius Nielsen and Lars J\onson and Mette Klarskov Andersen and Yuan Ding and Linda Steele and Lenka For{\'e}tova and {\'A}lex Teul{\'e} and Conxi L{\'a}zaro and Joan Brunet and Miquel Angel Pujana and Phuong L. Mai and Jennifer T Loud and Christine S Walsh and Jenny Lester and Sandra Orsulic and Steven A Narod and Josef S Herzog and Sharon R. Sand and Silvia Tognazzo and Simona Agata and Tibor Vaszk{\'o} and Joellen Weaver and Alexandra V. Stavropoulou and Saundra S. Buys and Atocha Romero and Miguel de la Hoya and Kristiina Aittom{\"a}ki and Taru A Muranen and M L Dur{\'a}n and Wendy K Chung and Adriana Lasa and Cecilia M. Dorfling and Alexander Miron and Javier Ben{\'i}tez and Leigha A. Senter and Dezheng Huo and Salina B. Chan and Anna P Sokolenko and Jocelyne Chiquette and Laima Tihomirova and Tara M. Friebel and Bjarni Agnar Agnarsson and Karen H. Lu and Flavio Lejbkowicz and Paul A James and Per Hall and Alison M. Dunning and Daniel M Tessier and Julie R Cunningham and Susan L. Slager and Chen Wang and Steven Hart and Kristen L. Stevens and Jacques Simard and Tomi Pastinen and V. Shane Pankratz and Kenneth Offit and Douglas F. Easton and Georgia Chenevix-Trench and Antonis C. Antoniou},
  booktitle={PLoS genetics},
BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7 × 10(-8), HR = 1.14, 95% CI: 1.09… CONTINUE READING
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