MLH1 and MSH2 gene mutation patterns in Lynch syndrome-associated colorectal cancer in Sudan

Background: Colorectal cancer (CRC) is increasingly becoming dominant in Sudan, which is attributed to several factors, including hereditary mutations in the DNA mismatch repair genes MLH1 and MSH2. Therefore, this study aimed to examine the MLH1 and MSH2 gene mutation patterns in Lynch syndrome-associated colorectal cancer in a series of Sudanese patients with CRC. Methodology: This study investigated 50 patients with CRC who attended El-Obeid Hospital during the period from 2017 to 2022. The presence of MLH1 and MSH2 was indicated by immunohistochemical testing of formalin-fixed, paraffin-wax-embedded tissues. Results: The MLH1 mutation was positive in 28% of the study population and negative in 72% of them. The MSH2 mutation was positive in 42% and negative in 58% of the study subjects. The MLH1 and MSH2 mutations shared positivity in 18% and negativity in 24% of the cases. Conclusion: According to the present studies, CRC is more prevalent in women. LS is more common in Sudanese patients with CRC than in many other reports throughout the world. MSH2 mutations are more prevalent in Sudanese patients than MLH1 mutations.