Single Nucleotide Polymorphism (SNP) and Selected Tumor Markers in Breast Cancer Patients Attending Federal Medical Centre, Yenagoa Bayelsa State

Breast cancer is the most common malignancy affecting women worldwide and a leading cause of cancer-related mortality globally particularly in resource-limited like Nigeria, due to late presentation and few diagnostic services. This study determined the association between the rs5030625 single nucleotide polymorphism in the CDH1 gene and HER2/Neu expression among breast cancer patients attending Federal Medical Centre, Yenagoa, Bayelsa State, Nigeria. A total number of 236 Archived Formalin Fixed Paraffin Embedded (FFPE) breast tissue samples were retrospectively analyzed from 2012 to 2020. Histopathological examination, immunohistochemistry, and molecular studies, including direct sequencing, were conducted to analyze tumor markers and genetic alterations. The results demonstrated that 47% of the breast lesions were malignant. The most common malignancy detected was invasive ductal carcinoma, (IDC).0 The expression of E-Cadherin and HER2/Neu was shown in 94.6% and 49.5% of cases respectively. Accordingly, the genotypic analysis demonstrated that GG was the most prevalent genotype, with 84%, followed by GA with 12%, and AA with 4%. Rs5030625 SNP was associated with E-Cadherin and HER 2/Neu expressions that may implicate involvement in tumor progression and prognosis. The study findings also highlight that genetic and molecular profiling remains one of the major drivers for improving understanding of the biology of breast cancer and, hence, diagnostic and therapeutic approaches, especially in resource-poor settings.