Genetic predisposition of HER2 gene polymorphisms (rs1136200 and rs1058808) associated with breast fibroadenoma in the South Indian population: A pilot case-control study

Abstract

Abstract Background Fibroadenoma (FA) is a non-cancerous breast lesion, usually diagnosed in young females, where the genes, proteins, and environmental risk factors contribute to the disease pathogenesis. The study aimed to find the association of Human Epithelial Growth Factor Receptor 2 (rs1136200 and rs1058808) gene polymorphisms with fibroadenoma in this population. Methods The study included 60 cases with FA and 60 healthy controls. DNA isolation was performed from peripheral blood lymphocytes and genotyped using the ARMS-PCR method. Allelic and genotype frequencies, odds ratio, Both variants were calculated with 95% confidence intervals. Results In this study, genotypic distributions of HER2 rs1136200 allelic polymorphisms were reported GG (31.7%), GT (48.3%), TT (20%) in FA cases, and 20%, 36.7%, 43.3% in controls. However, the percentage of the G allele in cases is 55.8% and controls 38.3%; the T allele in cases is 44.2% whereas 61.7 in controls. The genotypic distribution results of HER2 rs1058808 allelic polymorphisms showed CC (36.7%), CG (48.3%), and GG (15%) in FA cases and 28.3%, 40%, 31.7% in controls. However, the percentage of the C allele in cases is 60.8% and in controls 48.3%; the G allele in cases is 39.2% and 51.7% in controls. Our study found a significant difference in genotype frequencies of rs1136200 and rs1058808 gene polymorphism compared to FA patients and healthy controls. HER2 rs1136200 and rs1058808 gene polymorphism were significantly (P- value 0.05) associated with FA. Conclusion Future studies must identify the role of HER2 rs1136200 and rs1058808 gene variants and their interaction with other fibroadenoma-associated genes in FA for the possible development of suitable therapies and early diagnosis in the human community.