A linkage disequilibrium block from the BRCA1 gene was associated with breast cancer in Korean population

TL;DRAbstract

Recently, the morbidity and mortality of breast cancer have markedly increased in Korea. Many studies were performed to find the genetic susceptibility genes that might be involved in oncogenesis and treatment of breast cancer in various ethnic populations. Among the susceptible genes, the BRCA1 and BRCA2 genes have been shown to be involved in hereditary breast cancer. To identify whether the polymorphisms in these genes are associated with breast cancer, genetic association study was performed for tag single nucleotide polymorphisms (SNPs) located in the BRCA1 and BRCA2 genes with 346 breast cancer patients and 361 healthy controls in Korean ethnic group. We could not find any significant associations between SNPs in BRCA1 and BRCA2 genes and breast cancer. A single linkage disequilibrium (LD) block from the BRCA1 gene, however, was significantly associated with breast cancer. The haplotype (ht1) of this LD block was increased the risk of breast cancer (OR=0.584, p=0.039) and haploty

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