Journal article

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

David G Cox, Jacques Simard, Daniel Sinnett, Yosr Hamdi, Penny Soucy, Manon Ouimet, Laure Barjhoux, Carole Verny-Pierre, Lesley McGuffog, Sue Healey, Csilla Szabo, Mark H Greene, Phuong L Mai, Irene L Andrulis, Mads Thomassen, Anne-Marie Gerdes, Maria A Caligo, Eitan Friedman, Yael Laitman, Bella Kaufman Show all

Human Molecular Genetics | OXFORD UNIV PRESS | Published : 2011

University of Melbourne Researchers

Grants

Awarded by Westat, Inc., Rockville, MD


Awarded by Spanish Ministry of Science and Innovation


Awarded by Dutch Cancer Society


Awarded by ZonMW


Awarded by Cancer Research UK


Awarded by Association for International Cancer Research


Awarded by National Cancer Institute, National Institutes of Health


Awarded by Cancer Care Ontario


Awarded by Columbia University


Awarded by Fox Chase Cancer Center


Awarded by Huntsman Cancer Institute


Awarded by Northern California Cancer Center


Awarded by University of Melbourne


Awarded by Georgetown University Informatics Support Center (RFP)


Awarded by German Cancer Aid


Awarded by Academy of Finland


Awarded by National Health and Medical Research Council (NHMRC)


Awarded by Department of Defense


Awarded by US National Cancer Institute, National Institutes of Health


Awarded by Tissue Culture Shared Registry at Georgetown University (NIH/NCI)


Awarded by Cancer Genetics Network


Awarded by Instituto de Salud Carlos III


Awarded by European Community


Awarded by Canadian Breast Cancer Research Alliance



Awarded by DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS


Awarded by NATIONAL CANCER INSTITUTE


Awarded by Medical Research Council


Awarded by National Institute for Health Research


Awarded by The Francis Crick Institute


Funding Acknowledgements

National Cancer Institute (NCI): The research of Drs PL Mai and MH Greene was supported by the Intramural Research Program of the US National Cancer Institute, and by support services contracts NO2-CP-11019-50 and N02-CP-65504 with Westat, Inc., Rockville, MD.Ontario Cancer Genetics Network (OCGN): We wish to thank Gord Glendon, Teresa Selander, Nayana Weerasooriya and members of the Ontario Cancer Genetics Network for their contributions to the study. The OCGN is supported by Cancer Care Ontario.Spanish National Cancer Centre (CNIO): This study was partially supported by Fundacion Mutua Madrilena, Asociacion Espanola Contra el Cancer and the Spanish Ministry of Science and Innovation (FIS PI08 1120).Deutsches Krebsforschungszentrum (DKFZ): The DKFZ study was supported by the DKFZ. We thank Diana Torres and Muhammad U. Rashid for providing DNA samples and supplying data. We thank Antje Seidel-Renkert for expert technical assistance.The Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON): HEBON Collaborating Centers: Coordinating center: Netherlands Cancer Institute, Amsterdam, NL: F. B. L. Hogervorst, S. Verhoef, M. Verheus, L.J. van't Veer, F. E. van Leeuwen, M. A. Rookus; Erasmus Medical Center, Rotterdam, NL: M. Collee, A. M. W. van den Ouweland, A. Jager, M.J. Hooning, M. M. A. Tilanus-Linthorst, C. Seynaeve; Leiden University Medical Center, NL, Leiden: C.J. van Asperen, J.T. Wijnen, M. P. Vreeswijk, R. A. Tollenaar, P. Devilee; Radboud University Nijmegen Medical Center, Nijmegen, NL: M.J. Ligtenberg, N. Hoogerbrugge; University Medical Center Utrecht, Utrecht, NL: M. G. Ausems, R. B. van der Luijt; Amsterdam Medical Center, NL: C. M. Aalfs, T. A. van Os; VU University Medical Center, Amsterdam, NL: J.J.P. Gille, Q. Waisfisz, H.E.J. Meijers-Heijboer; University Hospital Maastricht, Maastricht, NL: E. B. Gomez-Garcia, C. E. van Roozendaal, Marinus J. Blok, B. Caanen; University Medical Center Groningen University, NL: J. C. Oosterwijk, A. H. van der Hout, M. J. Mourits; The Netherlands Foundation for the Detection of Hereditary Tumours, Leiden, NL: H. F. Vasen. The HEBON study is supported by the Dutch Cancer Society grants NKI1998-1854, NKI2004-3088, NKI2007-3756 and the ZonMW grant 91109024.Epidemiological study of BRCA1 & BRCA2 mutation carriers (EMBRACE): Douglas F. Easton is the PI of the study. EMBRACE Collaborating Centers are: Coordinating Centre, Cambridge: Susan Peock, Margaret Cook, Debra Frost, Radka Platte. North of Scotland Regional Genetics Service, Aberdeen: Zosia Miedzybrodzka, Helen Gregory. Northern Ireland Regional Genetics Service, Belfast: Patrick Morrison, Lisa Jeffers. West Midlands Regional Clinical Genetics Service, Birmingham: Trevor Cole, Kai-ren Ong, Jonathan Hoffman. South West Regional Genetics Service, Bristol: Alan Donaldson, Margaret James. East Anglian Regional Genetics Service, Cambridge: Joan Paterson, Sarah Downing, Amy Taylor. Medical Genetics Services for Wales, Cardiff: Alexandra Murray, Mark T. Rogers, Emma McCann. St James's Hospital, Dublin & National Centre for Medical Genetics, Dublin: M. John Kennedy, David Barton. South East of Scotland Regional Genetics Service, Edinburgh: Mary Porteous, Sarah Drummond. Peninsula Clinical Genetics Service, Exeter: Carole Brewer, Emma Kivuva, Anne Searle, Selina Goodman, Kathryn Hill. West of Scotland Regional Genetics Service, Glasgow: Rosemarie Davidson, Victoria Murday, Nicola Bradshaw, Lesley Snadden, Mark Longmuir, Catherine Watt, Sarah Gibson, Eshika Haque, Ed Tobias, Alexis Duncan. South East Thames Regional Genetics Service, Guy's Hospital London: Louise Izatt, Chris Jacobs, Caroline Langman, Anna Whaite. North West Thames Regional Genetics Service, Harrow: Huw Dorkins. Leicestershire Clinical Genetics Service, Leicester: Julian Barwell. Yorkshire Regional Genetics Service, Leeds: Julian Adlard, Carol Chu, Julie Miller. Merseyside & Cheshire Clinical Genetics Service, Liverpool: Ian Ellis, Catherine Houghton. Manchester Regional Genetics Service, Manchester: D Gareth Evans, Fiona Lalloo, Jane Taylor. North East Thames Regional Genetics Service, NE Thames, London: Lucy Side, Alison Male, Cheryl Berlin. Nottingham Centre for Medical Genetics, Nottingham: Jacqueline Eason, Rebecca Collier. Northern Clinical Genetics Service, Newcastle: Fiona Douglas, Oonagh Claber, Irene Jobson. Oxford Regional Genetics Service, Oxford: Lisa Walker, Diane McLeod, Dorothy Halliday, Sarah Durell, Barbara Stayner. The Institute of Cancer Research and Royal Marsden NHS Foundation Trust: Ros Eeles, Susan Shanley, Nazneen Rahman, Richard Houlston, Elizabeth Bancroft, Lucia D'Mello, Elizabeth Page, Audrey Ardern-Jones, Kelly Kohut, Jennifer Wiggins, Elena Castro, Anita Mitra, Lisa Robertson. North Trent Clinical Genetics Service, Sheffield: Jackie Cook, Oliver Quarrell, Cathryn Bardsley. South West Thames Regional Genetics Service, London: Shirley Hodgson, Sheila Goff, Glen Brice, Lizzie Winchester, Charlotte Eddy, Vishakha Tripathi, Virginia Attard. Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton: Diana Eccles, Anneke Lucassen, Gillian Crawford, Donna McBride, Sarah Smalley. EMBRACE is supported by Cancer Research UK Grants C1287/A10118 and C1287/A11990. D. Gareth Evans and Fiona Lalloo are supported by an NIHR grant to the Biomedical Research Centre, Manchester. The Investigators at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust are supported by an NIHR grant to the Biomedical Research Centre at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust. Ros Eeles, Elizabeth Bancroft and Lucia D'Mello are also supported by Cancer Research UK Grant C5047/A8385.Fox Chase Cancer Centre (FCCC): University of Kansas Medical Center (KUMC): A. K. G. was funded by R01CA140323, U01CA69631, 5U01CA113916, and the Eileen Stein Jacoby Fund.Genetic Modifiers of cancer risk in BRCA1/2 mutation carriers (GEMO) study: Cancer Genetics Network 'Groupe Geneetique et Cancer', Federation Nationale des Centres de Lutte Contre le Cancer, France. The study was supported by the Ligue National Contre le Cancer; Association for International Cancer Research Grant (AICR-07-0454); and the Association 'Le cancer du sein, parlons-en!' Award. We wish to thank all the GEMO collaborating groups for their contribution to this study. GEMO Collaborating Centers are: Coordinating Centres, Unite Mixte de Genetique Constitutionnelle des Cancers Frequents, Centre Hospitalier Universitaire de Lyon/Centre Leon Berard, & Equipe "Genetique du cancer du sein", Centre de Recherche en Cancerologie de Lyon, Lyon: Olga Sinilnikova, Laure Barjhoux, Carole Verny-Pierre, Sophie Giraud, Melanie Leone, Sylvie Mazoyer; and Service de Genetique Oncologique, Institut Curie, Paris: Dominique Stoppa-Lyonnet, Marion Gauthier-Villars, Bruno Buecher, Claude Houdayer, Virginie Moncoutier, Muriel Belotti, Carole Tirapo, Antoine de Pauw. Institut Gustave Roussy, Villejuif: Brigitte Bressac-de-Paillerets, Audrey Remenieras, Veronique Byrde, Olivier Caron, Gilbert Lenoir. Centre Jean Perrin, Clermont-Ferrand: Yves-Jean Bignon, Nancy Uhrhammer. Centre Leon Berard, Lyon: Christine Lasset, Valerie Bonadona. Centre Francois Baclesse, Caen: Agnes Hardouin, Pascaline Berthet. Institut Paoli Calmettes, Marseille: Hagay Sobol, Violaine Bourdon, Tetsuro Noguchi, Francois Eisinger. Groupe Hospitalier Pitie-Salpetriere, Paris: Florence Coulet, Chrystelle Colas, Florent Soubrier. CHU de Arnaud-de-Villeneuve, Montpellier: Isabelle Coupier, Pascal Pujol. Centre Oscar Lambret, Lille: JeanPhilippe Peyrat, Joelle Fournier, Francoise Revillion, Philippe Vennin, Claude Adenis. Hopital Rene Huguenin/Institut Curie, St Cloud: Etienne Rouleau, Rosette Lidereau, Liliane Demange, Catherine Nogues. Centre Paul Strauss, Strasbourg: Daniele Muller, Jean-Pierre Fricker. Institut Bergonie, Bordeaux: Michel Longy, Nicolas Sevenet. Institut Claudius Regaud, Toulouse: Christine Toulas, Rosine Guimbaud, Laurence Gladieff, Viviane Feillel. CHU de Grenoble: Dominique Leroux, Helene Dreyfus, Christine Rebischung. CHU de Dijon: Fanny Coron, Laurence Faivre. CHU de St-Etienne: Fabienne Prieur, Marine Lebrun. Hotel Dieu Centre Hospitalier, Chambery: Sandra Fert Ferrer. Centre Antoine Lacassagne, Nice: Marc Frenay. CHU de Limoges: Laurence Venat-Bouvet. CHU de Nantes: Capucine Delnatte. CHU Bretonneau, Tours: Isabelle Mortemousque. Creighton University, Omaha, USA: Henry T. Lynch, Carrie L. Snyder.The Breast Cancer Family Registry (BCFR): BCFR is supported by the National Cancer Institute, National Institutes of Health under RFA-CA-06-503 and through cooperative agreements with members of the BCFR and Principal Investigators, including Cancer Care Ontario (U01 CA69467), Columbia University (U01 CA69398), Fox Chase Cancer Center (U01 CA69631), Huntsman Cancer Institute (U01 CA69446), Northern California Cancer Center (U01 CA69417), University of Melbourne (U01 CA69638) and the Georgetown University Informatics Support Center (RFP No. N02PC45022-46). Samples from the NCCC, FCCC and HCI were processed and distributed by the Coriell Institute for Medical Research. The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute or any of the collaborating centers in the BCFR, nor does mention of trade names, commercial products or organizations imply endorsement by the US Government or the BCFR.Copenhagen Breast Cancer Study (CBCS): We would like to thank Bent Ejlertsen, Mette K. Andersen, and Susanne Kjaergaard for clinical data. Moreover, we thank the NEYE Foundation for financial support.Gynecologic Oncology Group (GOG): GOG's participation was supported through funding provided by both intramural (Clinical Genetics Branch, DCEG) and extramural (Community Oncology and Prevention Trials Program, COPTRG) NCI programs, as well as by GOG's Cancer Prevention and Control Committee.Ohio State University Clinical Cancer Center (OSU CCG): We thank Leigha Senter and Kevin Sweet for accrual of study participants and Michelle O'Connor and Caroline Craven for database entry. The OSU Human Genetics Sample Bank processed DNA samples and the OSU CCC Nucleic Acids Shared Resource performed the Taqman Plate Reads. This work was supported by funds from the OSU Comprehensive Cancer Center.Istituto Oncologico Veneto-Hereditary Breast Ovarian Cancer Study (IOVHBOCS): The study was supported by the Ministero dell'Universitae della Ricerca (MIUR), Ministero della Salute (P.I.O. V and 'Progetto Tumori Femminili') and Alleanza Contro il Cancro.UK and Gilda Radner Familial Ovarian Cancer Registries (UKGRFOCR): UKFOCR was supported by a project grant from CRUK to Paul Pharoah. We thank Paul Pharoah, Susan Ramus, Carole Pye, Patricia Harrington and Eva Wozniak for their contributions towards the UKFOCR. We'd like to acknowledge the Roswell Park Alliance Foundation for their continued support of the Gilda Radner Ovarian Family Cancer Registry. GRFOCR would like to acknowledge Lara Sucheston (Department of Cancer Prevention and Control) and Kunle Odunsi (Departments Gynecologic Oncology and Immunology).The German Consortium of Hereditary Breast and Ovarian Cancer (GC-HBOC): GC- HBOC is supported by a grant of the German Cancer Aid (grant 107054). We thank Raymonda Varon-Mateeva (Center Berlin), Karin Kast (Center Dresden), Sabine Preisler-Adams (Center Munster), Helmut Deissler (Center Ulm), Ines Schonbuchner (Center Wurzburg), Wolfram Heinritz (Center Leipzig) and Dieter Schafer (Center Frankfurt) for providing samples and clinical data and Juliane Kohler for her excellent technical assistance.Helsinki Breast Cancer Study (HEBCS): The HEBCS study has been financially supported by the Helsinki University Central Hospital Research Fund, Academy of Finland (132473), the Finnish Cancer Society and the Sigrid Juselius Foundation. HEBCS thanks Drs Kristiina Aittomaki, Carl Blomqvist and Tuomas Heikkinen and RN Irja Erkkila for their help with the patient data and samples.Kathleen Cuningham Foundation Consortium for research into Familial Breast cancer (kConFab): We wish to thank Heather Thorne, Eveline Niedermayr, all the kConFab research nurses and staff, the heads and staff of the Family Cancer Clinics and the Clinical Follow Up Study (funded by NHMRC grants 145684, 288704 and 454508) for their contributions to this resource, and the many families who contribute to kConFab. kConFab is supported by grants from the National Breast Cancer Foundation, the National Health and Medical Research Council (NHMRC) and by the Queensland Cancer Fund, the Cancer Councils of New South Wales, Victoria, Tasmania and South Australia, and the Cancer Foundation of Western Australia. A. B. S. and G.C.-T. are supported by a NHMRC Senior Research and Principal Research Fellowships, respectivelyUniversity of California Irvine (UCI) (now the Beckman Research Institute of City of Hope): Genotyping at UCI was funded by grant NIH CA74415.Mayo Clinic (MAYO): This work was supported by grants from the Breast Cancer Research Foundation (BCRF), Komen Foundation for the Cure, Department of Defense ovarian cancer research award (W81XWH-10-1-0341) and US National Cancer Institute, National Institutes of Health grant CA128978.Georgetown University (GEORGETOWN): C. I. received support from the Familial Cancer Registry and the Tissue Culture Shared Registry at Georgetown University (NIH/NCI grant P30-CA051008), the Cancer Genetics Network (HHSN261200744000C), and Swing Fore the Cure.University of Pennsylvania (UPENN): We acknowledge support by the Breast Cancer Research Foundation to K.L.N., by the Susan G. Komen Foundation to S. M. D., and by R01-CA083855 and R01-CA102776 to T. R. R. for the MAGIC consortium.Hospital Clinico San Carlos (HCSC): The HCSC study was partially supported by Instituto de Salud Carlos III: RD06/0020/0021. We wish to thank Dr Miguel de la Hoya and Pedro Perez-Segura for their contribution to this study.This work was supported by the European Community's Seventh Framework Programme under grant agreement no. 223175 (HEALTH-F2-2009-223175). D. G. C. received a grant from the INSERM/INCa. J.S. is Chairholder of the Canada Research Chair in Oncogenetics. This work was supported by the LIGUE CONTRE LE CANCER (S. M. and O.M.S.) and by the Canadian Institutes of Health Research for the 'CIHR Team in Familial Risks of Breast Cancer' program and by the Canadian Breast Cancer Research Alliance-grant #019511. D. S. holds the Francois-Karl Viau Chair in Pediatric Oncogenomics and is a scholar of the Fonds de la Recherche en Sante du Quebec (FRSQ). A. C. A. is a CR-UK Senior Cancer Research Fellow, D. F. E. is CR-UK Principal Research Fellow and G. C. T. is a NHMRC Senior Principal Research Fellow.