Abstract:
Purpose: Breast cancer is the most common malignancy among females in both developed and developing region of the world. Genetic factors are implicated in the etiology of breast cancer. Altered expression of some genes due to polymorphisms increases the risk of breast cancer incidence. This study was aimed to evaluate the role of BRCA1 (rs80357713), BRCA1 (rs76171189), BRCA2 (rs11571653), RAD51 (rs1801320), HER2 (rs1136201) polymorphisms as risk factors for breast cancer as well as their effects on breast cancer subtypes in Bangladeshi population. Patients and Methods: For breast cancer risk determination, total three hundred and ten (310) patients with invasive breast cancers were recruited from different public and private hospitals of Bangladesh and as controls two hundred and fifty (250) Bangladeshi women were recruited matching age with patients coming from different region of the country where most of them were with benign tumor disease getting treatments in the surgical wards of the hospitals. Genetic polymorphisms of the mentioned genes were detected by using Polymerase Chain Reaction Restriction Fragment Length Polymorphism (PCR RFLP). Results: Patients carrying BRCA1 (rs80357713), BRCA1 (rs76171189) and BRCA2 (rs11571653) polymorphisms were collectively associated with breast cancer risk. Patients with GC and GC plus CC genotype of RAD51 (rs1801320) and AG plus GG genotype of HER2 (rs1136201) gene were found to be significantly associated with breast cancer. In sub group analysis, AG plus GG genotype of HER2 (rs1136201) was found to be associated with breast cancer risk in patient younger than 45 years of age in compared to patients older than 45 years of age. RAD51 (rs1801320) was related with tumor aggressiveness (higher graded tumor). No other significant association was found in this study. Conclusion: Our results indicate that BRCA1 (rs80357713), BRCA1 (rs76171189), BRCA2 (rs11571653), RAD51 (rs1801320), HER2 (rs1136201) polymorphisms are associated with breast cancer in different ways.
