High-risk familial syndromes

Abstract

The optimal management of individuals with, or at risk of, a familial colorectal cancer syndrome is dependent upon determining which syndrome is present. The provisional diagnosis should be based on well verified clinical and pathological data concerning the index patient and other affected members of the family. The diagnosis may ultimately be confirmed by the demonstration of a causative germline mutation. Genetic testing is highly specific for the syndromes in question, and, for most genes, highly sensitive. There remains a small group of patients and families meeting phenotypic diagnostic criteria for the various syndromes where a mutation in the relevant gene is not identified. This cou..