原创力文档tagging single nucleotide polymorphisms in the brip1 gene and susceptibility to breast and ovarian cancer标签在brip1基因单核苷酸多态性,对乳腺癌和卵巢癌的易感性.pdfVIP
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tagging single nucleotide polymorphisms in the brip1 gene and susceptibility to breast and ovarian cancer标签在brip1基因单核苷酸多态性,对乳腺癌和卵巢癌的易感性
Tagging Single Nucleotide Polymorphisms in the BRIP1
Gene and Susceptibility to Breast and Ovarian Cancer
1 2 ¨ 3,6 3 4 5 5
Honglin Song *, Susan J. Ramus , Susanne Kruger Kjaer , Estrid Hogdall , Richard A. DiCioccio , Alice S. Whittemore , Valerie McGuire , Claus
6 2 7 1 1 2 1
Hogdall , Ian J. Jacobs , Douglas F. Easton , Bruce A. J. Ponder , Alison M. Dunning , Simon A. Gayther , Paul D.P. Pharoah
1 Cancer Research UK (CRUK) Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom,
2 Translational Research Laboratories, Institute for Women’s Health, University College London, United Kingdom, 3 Institute of Cancer Epidemiology,
Danish Cancer Society, Copenhagen, Denmark, 4 Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, New York, United States of
America, 5 Department of Health Research and Policy, Stanford University School of Medicine, Stanford, United States of America, 6 The Juliane Marie
Centre, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark, 7 Cancer Research UK (CRUK) Genetic Epidemiology Unit, University of
Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom
Background. BRIP1 interacts with BRCA1 and functions in regulating DNA double strand break repair pathways. Germline
BRIP1 mutations are associated with breast cancer and Fanconi anemia. Thus, common variants in the BRIP1 are candidates for
breast and ovarian cancer susceptibility. Methods. We used a SNP tagging approach to evaluate the association between
common variants (minor allele frequency$0.05) in BRIP1 and the risks of breast cancer and invasive ovar
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