Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.

ABSTRACT:

Purpose

African Americans have a higher incidence and mortality from colorectal cancer. This disparity might be due, in part, to the type of mutations in driver genes. In this study, we examined alterations specific to APC, MSH3, and MSH6 genes using targeted exome sequencing to determine distinctive variants in the course of neoplastic transformation.

Experimental design

A total of 140 African American colon samples (30 normal, 21 adenomas, 33 advanced adenomas and 56 cancers) were used as our discovery set on an Ion Torrent platform. A 36 samples subset was resequenced on an Illumina platform for variants' validation. Bioinformatics analyses were performed and novel validated variants are reported.

Results

Two novel MSH6 variants were val

SUBMITTER: Ashktorab H 

PROVIDER: S-EPMC5725144 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature