COMPREHENSIVE MOLECULAR EVALUATION OF ERCC5 RS1047768 T>C GENE VARIATION AND ITS ASSOCIATION WITH PREDISPOSITION AND CLINICOPATHOLOGICAL CHARACTERISTICS OF BREAST CANCER

Abstract

Breast cancer is a genetically diverse disease that is affected by genetic variations such as polymorphisms of DNA repair genes. The case-control study examined the relationship between ERCC5 T>C (rs1047768) and breast cancer risk and clinicopathological features in a Saudi cohort. One hundred Saudi women who had primary breast cancer and 100 healthy age-matched controls were included. ARM-PCR was used to complete genotyping and distribution of genotype in controls was in accordance with HardyWeinberg equilibrium. The TC and CC genotypes were more common in patients compared to controls (45% and 15% vs. 35% and 8%), and the frequency of the C allele was greater in patients (0.37 vs. 0.25). Under codominant, dominant and allelic models, significant associations with the risk of breast cancer were found. Moreover, the association of tumor stage, histological grade, estrogen receptor status, progesterone receptor status, HER2 status and distant metastasis with the association of rs1047768 were significant, whereas age and treatment status were not. These results indicate the possibility of breast cancer susceptibility in this population with ERCC5 rs1047768 T>C and potentially tumor characteristics that are more aggressive. Functional validation and larger studies should be done to validate its clinical relevance.