A Novel Genetic Mutation and Gastrointestinal Cancers

Gastrointestinal (GI) cancers account for nearly 20% of all diagnosed cancers and 25% of all cancer-related deaths in the U.S. Heritable genetic syndromes that increase the risk for GI cancer include hereditary nonpolyposis colorectal cancer (HNPCC; arising from mutation in DNA mismatch repair genes), familial adenomatous polyposis (FAP; arising from mutation in the APC gene), BRCA-associated breast and pancreatic cancer, and gastric cancer arising from e-cadherin mutation. Genetic testing identifies individuals and families at risk for GI cancers and leads to increased screening and potential prophylactic surgery. The two major categories of genomic instability that potentially lead to familial cancer include microsatellite instability and…