Journal article
Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers
SJ Ramus, C Kartsonaki, SA Gayther, PDP Pharoah, OM Sinilnikova, J Beesley, X Chen, L McGuffog, S Healey, FJ Couch, X Wang, Z Fredericksen, P Peterlongo, S Manoukian, B Peissel, D Zaffaroni, G Roversi, M Barile, A Viel, A Allavena Show all
Journal of the National Cancer Institute | OXFORD UNIV PRESS INC | Published : 2011
DOI: 10.1093/jnci/djq494
Abstract
Background Germline mutations in the BRCA1 and BRCA2 genes are associated with increased risks of breast and ovarian cancers. Although several common variants have been associated with breast cancer susceptibility in mutation carriers, none have been associated with ovarian cancer susceptibility. A genome-wide association study recently identified an association between the rare allele of the single-nucleotide polymorphism (SNP) rs3814113 (ie, the C allele) at 9p22.2 and decreased risk of ovarian cancer for women in the general population. We evaluated the association of this SNP with ovarian cancer risk among BRCA1 or BRCA2 mutation carriers by use of data from the Consortium of Investigato..
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Funding Acknowledgements
The CIMBA data management and data analysis was supported by Cancer Research UK grants (to D. F. E. and A. C. A.). G.C.-T. founded CIMBA to provide the infrastructure to study genetic modifiers of cancer risk for BRCA1 and BRCA2 mutation carriers.r Breast Cancer Family Registry (BCFR): Supported by the National Cancer Institute (NCI), National Institutes of Health under RFA-CA-06-503 and through cooperative agreements with members of the BCFR and Principal Investigators (PIs), 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 Research Triangle Institute Informatics Support Center (RFP No. N02PC45022-46). The content of this article does not necessarily reflect the views or policies of the NCI 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.r Copenhagen Breast Cancer Study (CBCS): Supported by the Neye Foundation.r Spanish National Cancer Center (CNIO) and the Spanish Consortium: Partially supported by Fundacion Mutua Madrilena, Asociacion Espanola Contra el Cancer, and the Spanish Ministry of Science and Innovation (FIS PI08 1120).r Funded in part by the Basque Foundation for Health Innovation and Research (BIOEF) (BIO07/CA/006).r CONsorzio Studi Italiani Tumori Ereditari Alla Mammella (CONSIT TEAM): Supported by grants from Associazione Italiana per la Ricerca sul Cancro (4017) and by funds from Italian citizens who allocated the 5x1000 share of their tax payment in support of the Fondazione IRCCS Istituto Nazionale Tumori, according to Italian laws (INT-Institutional strategic projects "5x1000") to P. P. Supported by grants from Ministero della Salute ("Progetto Tevere"-Linea 1 RC D/08/02B-"Progetto Tumori Femminili"-F/08/0PZ-Lineal RC CORR/08) to S. M. Supported by grants from Associazione Italiana per la Ricerca sul Cancro (8713) to L.O. Supported by grants from Ministero della Salute (Extraordinary National Cancer Program 2006, "Alleanza contro il Cancro" and Integrated Program N.5) to V. G. Supported by grants from Fondazione Italiana per la Ricerca sul Cancro (Special Project "Hereditary tumors"), Ministero della Salute (RFPS-2006-3-340203, Extraordinary National Cancer Program 2006 "Alleanza contro il Cancro," and "Progetto Tumori Femminili") and Ministero dell'Universita' e Ricerca (RBLAO3-BETH) to P.R.r Deutsches Krebsforschungszentrum (DKFZ) study: Supported by the DKFZ.r Epidemiological study of BRCA1 and BRCA2 mutation carriers (EMBRACE): Cancer Research UK grants (C1287/A10118 and C1287/A8874 to D. F. E., S. P., M. C., D. F., and C.O., and C8197/A10123 and C8197/A10865 to A. M. D.). National Institute for Health Research grant to the Biomedical Research Centre, Manchester (D. G. E.). The Investigators at the Institute of Cancer Research and the Royal Marsden NHS Foundation Trust are supported by a National Institute of Health Research grant to the Biomedical Research Centre at the Institute of Cancer Research and the Royal Marsden NHS Foundation Trust. Cancer Research UK grant (C5047/A8385 to R. E., E. B., and L. D'M.).r Fox Chase Cancer Center (FCCC): National Institutes of Health (P50 CA83638, U01 CA69631, and 5U01 CA113916 to A. K. G.); Eileen Stein Jacoby Fund.r The German Consortium of Hereditary Breast and Ovarian Cancer (GC-HBOC): German Cancer Aid (107054). r Genetic Modifiers of cancer risk in BRCA1/2 mutation carriers (GEMO): Cancer Genetics Network "Groupe Genetique et Cancer," Federation Nationale des Centres de Lutte Contre le Cancer, France, is supported by the Ligue National Contre le Cancer; Association for International Cancer Research grant (AICR-07-0454); Association "Le cancer du sein, parlons-en!" Award.r The Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON): Dutch Cancer Society (NKI 1998-1854, NKI 2004-3088 and NKI 2007-3756).r Hospital Clinico San Carlos: National Institute of Health Carlos III (RTICC 06/0020/0021, FIS 070359, and FIS 0900850).r Helsinki Breast Cancer Study (HEBCS): Helsinki University Central Hospital Research Fund, Academy of Finland (132473), the Finnish Cancer Society, and the Sigrid Juselius Foundation.r International Hereditary Cancer Center: State Committee for Scientific Research (PBZ_KBN_122/P05/2004).r Interdisciplinary Health Research International Team Breast Cancer Susceptibility (INHERIT BRCAs): Canadian Institutes of Health Research for the "CIHR Team in Familial Risks of Breast Cancer" program (CRN_87521); Canadian Breast Cancer Research Alliance (019511).r Istituto Oncologico Veneto-Hereditary Breast Ovarian Cancer Study: "Ministero della Salute" (RFPS 2006-5-341353, ACC2/R6.9).r KCONFAB: National Breast Cancer Foundation, the National Health and Medical Research Council (NHMRC), and 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 Senior and Senior Principal Research Fellows of the NHMRC, respectively.r Mayo Clinic Study: National Institutes of Health (R01 CA128978 and P50 CA116201); Komen race for the cure (KG081527); Breast Cancer Research Foundation.r Memorial Sloane Kettering Cancer Center: Breast Cancer Research Foundation and the Lomangino Family Research Fund.r NCI: Intramural Research Program of the US NCI at the National Institutes of Health; support services contracts (NO2-CP-11019-50 and N02-CP-65504 to P. L. M. and M. H. G.) with Westat, Inc, Rockville, MD.r N.N. Petrov Institute of Oncology: Russian Foundation for Basic Research (08-04-00369-a, 10-04-92110 and 10-04-92110-a); Federal Agency for Science and Innovations (contract 02.740.11.0780); Commission of the European Communities (PITN-GA-2009-238132); Royal Society International Joint (JP090615).r Ontario Cancer Genetics Network (OCGN): Supported by Cancer Care Ontario, Canada (I. L. A.); and the NCI, National Institutes of Health under RFA-CA-06-503 and through cooperative agreements with members of the BCFR and PIs. The content of this article does not necessarily reflect the views or policies of the NCI or any of the collaborating centers in the Cancer Family Registry (CFR) nor does mention of trade names, commercial products, or organizations imply endorsement by the US Government or the CFR.r Pisa Breast Cancer Study: Fondazione Cassa di Risparmio di Pisa (122/07) and grant 2010 from Istituto Toscano Tumori.r Swedish Breast Cancer Study (SWE-BRCA): Supported by the Swedish Cancer Society.r University of California Irvine: National Institutes of Health (R01 CA74415 to SLN and Y.C.D.).r University of California San Francisco (UCSF): Clinical and Translational Science Institute at the University of California, San Francisco (to M. S. B.).r UK and Gilda Radner Familial Ovarian Cancer Registries (UKGRFOCR): UKFOCR was supported by a project grant from CRUK to P. P. Some of this work was undertaken at UCLH/UCL who received a proportion of funding from the Department of Health's NIHR Biomedical Research Centre funding scheme.r University of Pennsylvania: Breast Cancer Research Foundation (K.L.N.); Cancer Genetics Network (HHSN21620074400C to S. M. D.).r Women's Cancer Research Institute: Supported in part by the American Cancer Society Early Detection Professorship, L & S Milken Family Foundation, and Entertainment Industry Foundation.