Prevalence of Human Epidermal Growth Factor Receptor 2 (HER2) Ile655Val Polymorphism in Breast Cancer Sudanese Patients

Abstract

Breast cancer is considered the most common type of cancer and the second cause of death among Sudanese women. The cause of this cancer is poorly understood. The human epidermal growth factor Receptor 2 (HER2/erbB2) seems to play an important role in the development of this neoplasia, and single nucleotide polymorphisms (SNPs) in the HER2 gene have been associated with breast cancer. In our study, we aimed to investigate the presence of HER2 gene Ile655Val polymorphism in breast cancer patients and healthy volunteers. We have analyzed the prevalence of HER2 gene (Ile655Val) polymorphism in blood and buccal samples from 101 breast cancer patients and 20 healthy volunteers using the polymerase chain reaction (PCR) technique, followed by restriction fragment length polymorphism (PCR-RFLP). We found no significant association between this mutation and development of breast cancer. The prevalence of this mutation among the breast cancer patients was nearly 5%. Also, there was a significant deviation from Hardy-Weinberg Equilibrium (P = 0.005). Further studies including larger sample size and more risk factors are needed to evaluate the role of this polymorphism in the behavior of breast cancer