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Type: Journal article
Title: A single nucleotide polymorphism in the 5' untranslated region of RAD51 and risk of cancer among BRCA1/2 mutation carriers
Author: Wang, W.
Spurdle, A.
Kolachana, P.
Bove, B.
Modan, B.
Ebbers, S.
Suthers, G.
Tucker, M.
Kaufman, D.
Doody, M.
Tarone, R.
Daly, M.
Levavi, H.
Pierce, H.
Chetrit, A.
Yechezkel, G.
Chenevix-Trench, G.
Offit, K.
Godwin, A.
Struewing, J.
Citation: Cancer Epidemiology, Biomarkers and Prevention, 2001; 10(9):955-960
Publisher: Amer Assoc Cancer Research
Issue Date: 2001
ISSN: 1055-9965
Abstract: RAD51 colocalizes with both BRCA1 and BRCA2, and genetic variants in RAD51 would be candidate BRCA1/2 modifiers. We searched for RAD51 polymorphisms by sequencing 20 individuals. We compared the polymorphism allele frequencies between female BRCA1/2 mutation carriers with and without breast or ovarian cancer and between population-based ovarian cancer cases with BRCA1/2 mutations to cases and controls without mutations. We discovered two single nucleotide polymorphisms (SNPs) at positions 135 g-->c and 172 g-->t of the 5' untranslated region. In an initial group of BRCA1/2 mutation carriers, 14 (21%) of 67 breast cancer cases carried a "c" allele at RAD51:135 g-->c, whereas 8 (7%) of 119 women without breast cancer carried this allele. In a second set of 466 mutation carriers from three centers, the association of RAD51:135 g-->c with breast cancer risk was not confirmed. Analyses restricted to the 216 BRCA2 mutation carriers, however, showed a statistically significant association of the 135 "c" allele with the risk of breast cancer (adjusted odds ratio, 3.2; 95% confidence limit, 1.4-40). BRCA1/2 mutation carriers with ovarian cancer were only about one half as likely to carry the RAD51:135 g-->c SNP. Analysis of the RAD51:135 g-->c SNP in 738 subjects from an Israeli ovarian cancer case-control study was consistent with a lower risk of ovarian cancer among BRCA1/2 mutation carriers with the "c" allele. We have identified a RAD51 5' untranslated region SNP that may be associated with an increased risk of breast cancer and a lower risk of ovarian cancer among BRCA2 mutation carriers. The biochemical basis of this risk modifier is currently unknown.
Keywords: Humans
Breast Neoplasms
Ovarian Neoplasms
Genetic Predisposition to Disease
DNA-Binding Proteins
Neoplasm Proteins
BRCA1 Protein
BRCA2 Protein
Transcription Factors
Case-Control Studies
Polymorphism, Genetic
Aged, 80 and over
Middle Aged
United States
Rad51 Recombinase
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