Somatic whole exome sequencing of colorectal carcinoma in young patients from sub-Saharan Africa reveals novel insights.

ABSTRACT: Colorectal carcinoma (CRC) is a frequent cause of morbidity and mortality in sub-Saharan Africa. The incidence of early-onset, microsatellite stable (MSS) CRC is on the rise, and the tumour biology of these lesions is poorly categorised. Preliminary data from one centre in Nigeria found differences in the frequencies of mutations in driver genes and altered signalling pathways. We sought to investigate potential alternative driver genes and signalling pathways by whole exome sequencing. Eighty-three cases passed quality control filters and were included in the analysis (77 MSS, 4 microsatellite instability-high, and 2 POLE mutant). APC, TP53, and KRAS were among the most frequently mutated driver genes, although at a lower frequency than expected. BRAF V600E mutations were absent in our co

SUBMITTER: Aldera AP 

PROVIDER: S-EPMC12441016 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature