Assessing the prevalence and impact of HER1-rs11543848 polymorphism in breast cancer development among Bangladeshi women: a case-control study

Abstract

Breast cancer is a leading cause of fatality among women all over the world, with its incidence steadily increasing, particularly in developing countries including Bangladesh. Here, we report the results of a case-control study designed to assess the influence of the HER1-rs11543848 (R497K) polymorphism in the HER1 receptor gene on breast cancer susceptibility in a Bangladeshi female population. Dysregulation of HER1 receptor, one of the epidermal growth factor receptors (EGFR) family that is also a key regulator of cell proliferation, survival, migration, and invasion, has been related to the development of breast cancer. Genomic DNA was isolated from whole blood samples of 112 breast cancer patients and 124 age- and gender-matched healthy controls. Tetra-Primer Amplification Refractory Mutation System Polymerase Chain Reaction (T-ARMS-PCR) was employed for the genotyping identification of the HER1-rs11543848 polymorphism. The heterozygous GA genotype was significantly associated with the increased risk of breast cancer (OR = 1, p = 0.0001), while the homozygous AA genotype was of no statistically meaningful association. The HER1-rs11543848 polymorphism may be quite a risk factor for breast cancer in Bangladeshi women and needs further studies for its functional relevance. Overall, the adoption of genetic knowledge in screening and treatment can improve early detection and individual-based intervention at the personal level, ultimately easing in anticipating consequences for breast cancer development.