Genetic insights: High germline variant rate in an indigenous African cohort with early-onset colorectal cancer

Only a limited number of published reports of hereditary colorectal cancer in indigenous African populations have been reported. This study therefore aims to investigate causative germline variants and to establish the incidence of pathogenic/likely pathogenic germline variants in the known colorectal cancer genes in indigenous African colorectal cancer patients using a next generation sequencing (NGS) multigene panel. Patients were from two hospitals in South Africa; with unresolved molecular diagnosis and an age of onset below or at 60 years. Germline DNA samples were analyzed using a 14-gene NGS panel on the Ion Torrent platform.