Heritable colorectal cancer syndromes: recognition and preventive management.

Department of Internal Medicine, Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN 55905, USA. boardman.lisa@mayo.edu

Familial CRC syndromes account for a small yet important portion of colorectal malignancies. HNPCC, FAP, JPS, and Peutz-Jeghers syndrome are the four major conditions to r to consider if an hereditary condition is suspected in an individual with CRC. A multidisciplinary team comprised of a medical geneticist, gastroenterologist, pathologist, radiologist, and colorectal surgeon with expertise in recognizing and establishing the diagnosis of a specific familial cancer condition is crucial to implementing the proper management and prevention strategies unique to each of these syndromes. Genetic testing for each of these coniditions is available and useful for presymptomatic diagnosis and for indicated surveillance regimens. Vigilant endoscopic surveillance and careful timing of surgery are the mainstays of prevention for gastrointestinal malignancies. But with the advancement of genetic evaluation, improved cancer surveillance for intestinal as well as extraintestinal cancer, and chemopreventive strategies, the management of patients with a familial CRC syndrome will continue to evolve and, hopefully, significantly reduce their cancer burden.

PMID: 12489281 [PubMed - indexed for MEDLINE]