Hereditary colorectal cancer results from specific genetic alterations. The
causative genes for familial adenomatous polyposis, juvenile polyposis, Pe
utz-Jeghers syndrome, and hereditary nonpolyposis colorectal cancer have be
en cloned and characterized within the past decade. Genetic testing has the
refore become more widely used to confirm the clinical diagnosis of each of
those syndromes, to provide adequate surveillance, to allow screening of a
t-risk family members, and to help the surgeon in surgical decision making.
The aim of this review is to analyze the importance of genetic testing in
view of the clinical and surgical management of those gene-carriers individ
uals, and to discuss how should the surgeon integrate genetic testing in th
e evaluation of such patients.