Genetic variants in LSP1(rs3817198 ) and MAP3K1(rs889312 ) are associated with the risk of breast cancer in Iranian population

Breast cancer arises as a result of multiple somatic molecular events that can be genetic or epigenetic. Breast cancer is a polygenic disease and has a component of inheritance due to low-penetrance and common genetic variants.Single nucleotide polymorphisms (SNPs) lead to genetic differences in breast cancer susceptibility among women from different ethnicities. The present study aimed at investigating the association of SNPs of two genes, MAP3K1 ( mitogen-activated protein kinase kinase kinase1 ) and LSP1 ( lymphocyte-specific protein 1 ) with risk of breast cancer in Persian women.One of these genes, lymphocyte-specific protein 1 (LSP1), is located on chromosome 11p15.5. It encodes an F-actin bundling cytoskeletal protein expressed in hematopoietic and endothelial cells.The association between the LSP1 rs3817198 T > C polymorphism and breast cancer risk has been widely investigated, but remains controversial.This SNP seemed to play a more prominent role in high-risk cases. To date, many studies have evaluated the potential role of LSP1 genotypes in breast cancer development and the risk modification of the effect by the rs3817198T/C polymorphism of this gene. rs3817198 showed strong associations with ER-positive than ER-negative tumors in populations of European ancestry.The MAP3K1 gene, encodes a serine/threonine protein kinase that activates the ERK, JNK and NF-Kb pathways.Garcia-Closas et al. have found that MAP3K1 variants were relevant in estrogen receptor (ER)-positive tumors to a greater degree than in ER-negative tumors. The rs889312-C allele showed to be a risk factor for the development of breast cancer in European and Asian ancestry populations,but not in Africans.It is possible that a low-risk allele not only influences the chance of developing breast cancer but also influences tumour characteristics such as invasiveness.We will evaluate the associations among MAP3K1 rs889312-C allele and LSP1 rs3817198 T > C polymorphism with breast cancer risk in breast cancer cases and controls in IRAN.

کلیدواژه ها:

Breast cancer ، MAP3K1 ، LSP1 ، SNP