Exploring the Role of HER1 and HER2 Gene Variants in Breast Cancer Susceptibility: A Case-Control Study in Bangladesh.

BACKGROUND AND AIMS: Breast cancer (BC) remains one of the leading causes of cancer-related deaths among women worldwide. The HER1 and HER2 genes, both members of the epidermal growth factor receptor (EGFR) family, have been extensively studied for their role in tumor development and progression. This study aims to investigate the association between BC risk and the HER1 rs11543848 and HER2 rs1136201 single nucleotide polymorphisms (SNPs) in the Bangladeshi population.

METHODS

This case-control study comprised 112 BC patients from National Cancer Research Institute Hospital, Mohakhali, Dhaka, Bangladesh, and 124 age- and sex-matched healthy controls (HCs) from nearby communities. Genotyping of HER1 rs11543848 and HER2 rs1136201 polymorphisms were carried out using the Tetra-Primer Amplification Refractory Mutation System PCR (T-ARMS PCR) method.

RESULTS

HER1 rs11543848 showed a strong association with BC risk under additive, dominant, and over-dominant models (p < 0.001), suggesting both GA and AA genotypes increase susceptibility. In contrast, HER2 rs1136201 showed no significant association in most models, except for a modest effect under the over-dominant model (p = 0.041), indicating a potential heterozygote influence.

CONCLUSION

Our findings reveal a significant association between the HER1 rs11543848 polymorphism and BC risk in the Bangladeshi population, while the HER2 rs1136201 polymorphism shows limited association. This highlights the need for larger studies across diverse ethnic groups to validate these genetic factors influencing BC susceptibility.