Identification of novel mutations by exome sequencing in African American colorectal cancer patients.

ABSTRACT:

Background

The purpose of this study was to identify genome-wide single nucleotide variants and mutations in African American patients with colorectal cancer (CRC). There is a need of such studies in African Americans, because they display a higher incidence of aggressive CRC tumors.

Methods

We performed whole exome sequencing (WES) on DNA from 12 normal/tumor pairs of African American CRC patient tissues. Data analysis was performed using the software package GATK (Genome Analysis Tool Kit). Normative population databases (eg, 1000 Genomes SNP database, dbSNP, and HapMap) were used for comparison. Variants were annotated using analysis of variance and were validated via Sanger sequencing.

Results

We identified somatic mutations in genes that are known targets in CRC

SUBMITTER: Ashktorab H 

PROVIDER: S-EPMC4296906 | biostudies-literature | 2015 Jan

REPOSITORIES: biostudies-literature