A BRCA1 promoter variant (rs11655505) and breast cancer risk

P Verderio; S Pizzamiglio; MC Southey; AB Spurdle; JL Hopper; X Chen; J Beesley; RK Schmutzler; C Engel; B Burwinkel; P Bugert; F Ficarazzi; S Manoukian; M Barile; B Wappenschmidt; G Chenevix-Trench; P Radice; P Peterlongo

Journal article

A BRCA1 promoter variant (rs11655505) and breast cancer risk

P Verderio, S Pizzamiglio, MC Southey, AB Spurdle, JL Hopper, X Chen, J Beesley, RK Schmutzler, C Engel, B Burwinkel, P Bugert, F Ficarazzi, S Manoukian, M Barile, B Wappenschmidt, G Chenevix-Trench, P Radice, P Peterlongo

Journal of Medical Genetics | B M J PUBLISHING GROUP | Published : 2010

DOI: 10.1136/jmg.2009.073544

Abstract

Background: A study of Chinese women recently suggested that the minor allele of rs11655505 in the BRCA1 promoter (c.-2265C→T) increases promoter activity and has a protective effect on breast cancer risk. Methods: We genotyped rs11655505 in 2912 female breast cancer cases and 2783 unaffected female controls from four Caucasian breast cancer studies. Results: No evidence for an association between rs11655505 and breast cancer risk was found. Conclusions: Our study failed to confirm a role of rs11655505 in breast cancer risk. Larger studies are necessary to determine if there is a weak association between this SNP and breast cancer risk.

University of Melbourne Researchers

Melissa Southey Author

John Hopper Author

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Awarded by National Cancer Institute

Funding Acknowledgements

The Italian study was funded by grants from Fondazione Italiana per la Ricerca sul Cancro (Special Project 'Hereditary tumors'), Associazione Italiana per la Ricerca sul Cancro (4017), Ministero della Salute (RFPS-2006-3-340203, and "Progetto Tumori Femminili), Ministero dell'Universita' e Ricerca (RBLAO3-BETH) and Istituto Superiore di Sanita' (526D/41) 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'). We wish thank all patients and families who participated to this study, for providing samples and clinical data. 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. The AOCS Management Group (D Bowtell, G Chenevix-Trench, A. deFazio, D Gertig, A Green, P Webb) gratefully acknowledges the contribution of all the clinical and scientific collaborators (see http://www.aocstudy.org/). Financial support was provided to AOCS by U.S. Army Medical Research and Materiel Command under DAMD17-01-1-0729, the Cancer Council Tasmania and Cancer Foundation of Western Australia. The ABCFS was supported by the National Health and Medical Research Council of Australia (NHMRC) [145604], the United States National Institutes of Health (NIH) [CA102740-01A2], and by the United States National Cancer Institute, National Institutes of Health [RFA-CA-06-503] through cooperative agreements with members of the Breast Cancer Family Registry and principal investigators 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]. The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute or any of collaborating centers in the Breast CFR, nor does mention of trade names, commercial products, or organizations imply endorsement by the US government or the Breast CFR. The ABCFS was initially supported by the NHMRC, the New South Wales Cancer Council and the Victorian Health Promotion Foundation. J.L. H. is an Australia Fellow of the NHMRC and Victorian Breast Cancer Research Consortium Group Leader. G. C. T., M. C. S and A. B. S. are NHMRC Research Fellows. The German study is supported by a grant of the German Cancer Aid (grant 107054). We thank all patients of the German consortium of hereditary breast and ovarian cancer (GC-HBOC) for providing samples and clinical data.