The role of MLH1, MSH2 and MSH6 in the development of colorectal cancer in Uganda.

ABSTRACT:

Introduction

In Uganda, colorectal cancer (CRC) is steadily increasing according to the Kampala Cancer Registry. In the West, microsatellite instability is detected in 90% of hereditary nonpolyposis colon cancers (HNPCC) which account for 1-2% of all CRC, and 15% of sporadic CRC. Germline mutations in MLH1 and MSH2 account for 90% of HNPCC in the West, whilst the remainder of cases are due to mutations in MSH6 and PMS2. The aim of this study was to determine the microsatellite instability (MSI) status and determine the proportions of MLH1, MSH2, and MSH6 pathological mutations in Ugandan CRC patients.

Methodology

This was a cross-sectional study carried out between 1st January 2008 to 15th September 2021. Patients were recruited prospectively from 16th September 2019 to 16th

SUBMITTER: Wismayer R 

PROVIDER: S-EPMC12036241 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature