Germline mutational profile of Chinese patients under 70 years old with colorectal cancer.

ABSTRACT:

Background

Inherited susceptibility accounts for nearly one-third of colorectal cancer (CRC) predispositions and has an 80%-100% lifetime risk of this disease. However, there are few data about germline mutations of hereditary CRC-related genes in Chinese patients with CRC. This study aimed to assess the prevalence of gene mutations related to cancer susceptibility among Chinese patients with CRC, differences between Chinese and Western patients, and the phenotype-genotype correlation.

Methods

We retrospectively collected tumor samples from 526 patients with CRC under 70 years old who underwent hereditary CRC genetic testing. A series of bioinformatic analyses, as well as statistical comparisons, were performed.

Results

We found that 77 patients (14.6%) harbored funct

SUBMITTER: Jiang TJ 

PROVIDER: S-EPMC7668457 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature