Value of predictive genetic testing in management of hereditary non- polyposis colorectal cancer (HNPCC)

Abstract

Objective: To investigate the impact of predictive genetic testing on colonoscopic surveillance in an extended family with hereditary non-polyposis colorectal cancer (HNPCC). Setting: Familial Bowel Cancer Service, The Royal Melbourne Hospital, Victoria. Subjects: 96 people registered with the Service who were apparently unaffected members of an extended family that met the classic Amsterdam criteria for HNPCC and carried an MLH1 gene mutation (IVS9+3insT). Intervention: Predictive genetic testing was offered in a cascade manner to at-risk family members; mutation-positive individuals were advised to have annual colonoscopic surveillance, while mutation-negative individuals were withdrawn fr..