A Study on Adenomatous Polyposis Coli (APC) and Myelocytomatosis (MYC) Gene Mutation in Fibroadenoma and Invasive Ductal Adenocarcinoma

Abstract

Cancer is a multi-step process involving multiple cell types, and its prevention remains challenging in the world. Early diagnosis of breast cancer is one of the best approaches to prevent this disease. The pathogenesis and tumor drug-resistant mechanisms are revealed by discovering breast cancer stem cells, and many genes are found related to breast cancer. The purpose of this study was to assess APC and MYC gene mutation patterns in benign and malignant breast lesions in women who attended Federal Teaching Hospital. Ten (10) formalin fixed paraffin embedded (FFPE) tissue blocks which contained 5 fibroadenoma and 5 invasive ductal adenocarcinoma, were retrieved from the pathological archives of Federal Teaching Hospital Ido-Ekiti for this case control retrospective study. Nucleic acid amplification technique was used to carry out this study by using dellaporta DNA extraction protocol, then the samples will be purified, and polymerase chain reaction (PCR) technique will be used to amplify the DNA fragment. PCR includes denaturation, annealing, electrophoresis analysis and integrity. The amplified fragments were sequenced using a genetic analyzer from applied Biosystems using the manufacturers manual using the sequencing kit used was that of the big dye terminator v3.1 cycle sequencing kit. Bio-edited software and Mega 6 were used for all genetic analysis. The results were reported that in fibroadenoma in apc gene, single nucleotide polymorphism (SNPs) mutation recorded 100% transition and in invasive ductal adenocarcinoma it recorded 100% transition as well. In functional mutation in apc gene, fibroadenoma reported 50% silent and 50% missense while for invasive ductal adenocarcinoma it recorded 100% missense. The results reported in MYC gene show that in snps mutation for fibroadenoma, 50% transversion and 50% transition was discovered. In IDA, 18% transition, 29% InDel and 53% transversion were spotted. In functional mutation, fibroadenoma resulted to 50% silent and 50% missense while in IDA it was reported 71% silent and 29% missense. This study carried out demonstrated that missense mutation is more prevalent in both APC and MYC compared to f i b r o a d e n o m a a n d i n v a s i v e d u c t a l adenocarcinoma singly. This research aided in finding out the correlation between APC and MYC gene which shows that one mutated gene can lead to the complication of another. The data generated from this research has highlighted the importance of carrying out further study in assessing both gene to understand their involvement in the etiology of carcinogenesis (it being the hallmark of cancer) which will In turn aid other research.