Case-control study of HER2/ neu Ile655Val single nucleotide polymorphism in relation towards risk for breast cancer

Abstract

Proto-oncogene HER2 (also known as erbB-2or neu) plays an important role in the causing cancer and in the prognosis of breast cancer. Genetic alterations in this proto-oncogene (HER-2/neu) have been shown to induce abnormal cell proliferation and prevent apoptosis. Genotyping studies have shown the association of single nucleotide polymorphism at codon 655 isoleucine to Valine polymorphism located in the transmembrane coding region and the risk of breast cancer, but the results remains controversial and varies in different population. In this study, we investigated the association of HER-2/neu Ile655Val polymorphism and the risk of breast cancer in a North Indian population.

Single nucleotide polymorphism (SNP) in HER-2/neu Ile655Val [dbSNP rs1136200] was done on in 41 breast cancer patients and in 42 healthy controls, data of demographic features and clinical features were also collected. Genotyping was performed by using DNA, extracted from blood and than polymerase chain reaction methodology, followed by the restriction fragment-length polymorphism (PCR-RFLP) analysis. Association between genotype and breast cancer risk was determined by statistical analysis.