The BRCA1 3'-UTR: 5711+421T/T_5711+1286T/T genotype is a possible breast and ovarian cancer risk factor.

作者: Malinee Pongsavee , Vichanan Yamkamon , Sumana Dakeng , Pornchai O-Charoenrat , Duncan R. Smith

DOI: 10.1089/GTMB.2008.0127

关键词: SNP arrayGenotypeSingle-nucleotide polymorphismBreast cancerAlleleUntranslated regionBiologyCancerAllele frequencyCancer researchGenetics

摘要: Background: A significant proportion of familial and early-onset breast ovarian cancers occur in individuals without coding mutations BRCA1 BRCA2. Aims: We identified genetic variation at 3′-untranslated region (UTR) cancer patients both with BRCA1/2 mutation the regions (BRCA1/2 pos neg), verified possible risk factor specific 3′-UTR using functional analysis. Methods: SNP analysis was screened 46 103 unaffected Thais by heteroduplex DNA sequencing. After chi-square test for potential association genotypes, tests were conducted several strategies luciferase gene expression model. Results: document existence two polymorphic sites, 5711+421(G or T) 5711+1286(C T). Frequency homozygous genotype 5711+421T/T_5711+1286T/T (or T/T-T/T) group of...

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