Use of molecular methods in the early diagnosis of familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer.

Familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC) are the most well-defined heritable conditions which predispose to colorectal cancer at a young age. Significant progress in understanding the pathogenesis of FAP and HNPCC has led to the development of techniques which can be used for the diagnosis of these two conditions. In this article, the technical aspects and clinical applications of molecular methods such as linkage analysis, mutational analysis and in vitro synthesised-protein assay for FAP and microsatellite instability or replication error (RER) assay for HNPCC are described and discussed. The potential of such molecular tests is the identification of affected individuals for proper surveillance and management as well as the identification of non-affected individuals to free them from the trauma of uncertainty and repeated unnecessary colonoscopies.