Exome Sequencing Reveals AMER1 as a Frequently Mutated Gene in Colorectal Cancer.

ABSTRACT:

Purpose

Somatic mutations occur at early stages of adenoma and accumulate throughout colorectal cancer progression. The aim of this study was to characterize the mutational landscape of stage II tumors and to search for novel recurrent mutations likely implicated in colorectal cancer tumorigenesis.

Experimental design

The exomic DNA of 42 stage II, microsatellite-stable colon tumors and their paired mucosae were sequenced. Other molecular data available in the discovery dataset [gene expression, methylation, and copy number variations (CNV)] were used to further characterize these tumors. Additional datasets comprising 553 colorectal cancer samples were used to validate the discovered mutations.

Results

As a result, 4,886 somatic single-nucleotide variants (SNV) were

SUBMITTER: Sanz-Pamplona R 

PROVIDER: S-EPMC4609254 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature