Oncogénétique colorectale: Acquis récents

In the span of a few years the underlying gene defects for most of the hereditary colorectal cancer syndromes have been identified and predictive tests have become available for use in clinical practice. Clinical features of Lynch syndrome are now better known. The availability of pre-screening tests and new genetic data has enhanced the chances of diagnosing Lynch syndrome. New molecular and clinical variants have been identified, such as biallelic germline mutations and epigenetic alterations. New data on familial adenomatous polyposis (FAP) show that somatic mosaicism is a cause for unexplained cases of FAP. A new polyposis syndrome, caused by mutations in MUTYH gene has been identified, although their clinical characteristics are not yet fully determined. These new molecular, clinical and epidemiological data will undoubtedly lead to more finely tuned recommendations for the management of affected individuals and their families, from diagnosis to cancer screening and prophylactic treatment.