Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.

ABSTRACT:

Background

Hereditary genetic mutations causing predisposition to colorectal cancer are accountable for approximately 30% of all colorectal cancer cases. However, only a small fraction of these are high penetrant mutations occurring in DNA mismatch repair genes, causing one of several types of familial colorectal cancer (CRC) syndromes. Most of the mutations are low-penetrant variants, contributing to an increased risk of familial colorectal cancer, and they are often found in additional genes and pathways not previously associated with CRC. The aim of this study was to identify such variants, both high-penetrant and low-penetrant ones.

Methods

We performed whole exome sequencing on constitutional DNA extracted from blood of 48 patients suspected of familial colorectal cance

SUBMITTER: Singh AK 

PROVIDER: S-EPMC10257304 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature