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

ABSTRACT:

Introduction

The increase in incidence of colorectal cancer in young patients of African ancestry coupled with increased aggressiveness has warranted investigation of the heritable nature of these cancers. Only a limited number of published reports of hereditary colorectal cancer in indigenous African populations have been reported and no systematic screening of these groups has been performed previously. We aimed 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.

Materials and methods

Patients were selected from two hospitals in Cape Town and Johannesburg, Sout

SUBMITTER: Yildiz S 

PROVIDER: S-EPMC10642181 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature