Genome-wide association study identified copy number variants associated with sporadic colorectal cancer risk

Colorectal Cancer (CRC) is the third most frequent cancer worldwide and associated with high mortality. We identified a rare structural or copy number variant region (CNVR) encompassing a chromatin remodeler (CHD8) and two common CNVRs encompassing an anti-phagocytic molecule (CD47) and two members of the RAS superfamily of GTPases (RERG/ARHGDIB) respectively in the human genome associated with sporadic CRC risk. Notably, majority of autistic patients with CHD8 loss had gastrointestinal defect including CRC, thus supporting CHD8 role as an important regulator of tumorigenesis.  Understanding the role of CNVs provides insights into CRC biology and potential biomarkers for future risk assessment. (By Dr. Peh Yean CHEAH, http://jmg.bmj.com/content/early/2017/10/27/jmedgenet-2017-104913 )