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https://hdl.handle.net/2440/7093
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 1538-7755 |
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 Adult Aged Aged, 80 and over Middle Aged Jews United States Israel Australia Female Rad51 Recombinase |
Appears in Collections: | Aurora harvest 5 Paediatrics publications |
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