Familial association

Abstract

Familial risk of colon cancer is a commonly encountered issue, involving both rare inherited syndromes of colon cancer and common familial clustering of cases. The genes that give rise to the rare syndromes of FAP and HNPCC are now known and current research is addressing the cellular mechanisms of these genes and the proper application of genetic testing in families with one of the syndromes. Common familial clustering of cases appears to arise from an interaction of mildly to moderately severe inherited susceptibility factors with certain environmental factors to give rise to adenomatous polyps and then finally colorectal cancer. Research in this area involves identification of these purportedly more common susceptibility genes, and determination of how each interacts with environmental factors to give rise to polyps and cancer. Optimal application of varying degrees of familial risk to screening strategies is also being determined.