Common low-penetrance risk variants associated with breast cancer in Persian women

Breast cancer is a disease caused by a complex combination of genetic and environmental factors. Several genes are known to be associated with increased susceptibility to breast cancer , including BRCA1 (Breast cancer 1 gene), BRCA2 (Breast cancer 2 gene), ATM (ataxia-telangiectasia mutated gene) etc., but only about 5% of breast cancer incidence can be explained by these high-penetrance mutations.Therefore, the identification of low-penetrance genes/loci may have a significant impact on breast cancer risk estimation.Single nucleotide polymorphisms (SNPs) lead to genetic differences in breast cancer susceptibility among women from different ethnicities. In unselected breast cancer patients, genome-wide association studies have identified low penetrance, high frequency SNPs that are associated with breast cancer risk.A recent multi-stage genome-wide scan for associations has identified five low-penetrance loci that are strongly associated with breast cancer in populations of diverse ethnicity. Four of them contain plausible causative genes FGFR2 (fibroblast growth receptor 2), TNRC9 (Trinucleotide repeat-containing 9), MAP3K1 (mitogen-activated protein kinase 3 K1), and LSP1 (lymphocyte-specific protein 1).In this study, the associations between FGFR2 (rs2981582, rs1219648),MAP3K1(rs889312 ),TOX3 (rs3803662, rs8051542,rs12443621,rs3104746,rs4784227) and LSP1 (rs3817198 ) polymorphisms and breast cancer risk will validate in our Persian population.

کلیدواژه ها:

Breast cancer ، SNP ، FGFR2 ، MAP3K1 ، LSP1