Journal article
A single nucleotide polymorphism in the 5′ untranslated region of RAD51 and risk of cancer among BRCA1/2 mutation carriers
WW Wang, SM Ebbers, DJ Kaufman, JP Struewing, MA Tucker, MM Doody, AB Spurdle, G Chenevix-Trench, G Suthers, P Kolachana, M Daly, AK Godwin, B Bove, B Modan, H Levavi, H Pierce, A Chetrit, GH Yechezkel
Cancer Epidemiology Biomarkers and Prevention | AMER ASSOC CANCER RESEARCH | Published : 2001
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 wit..
View full abstract