Adenomatous polyposis syndromes: from genetics to clinic

Abstract

Adenomatous polyposis syndromes are severe hereditary diseases, characterized by the development of tens and hundreds colonic polyps and an extremely high risk of colorectal cancer without timely surgical treatment. Two hundred and forty Russian patients with more than 20 adenomatous colonic polyps were included in genetic study. Hereditary heterozygous mutations in the APC gene were detected in 157 patients, and biallelic mutations in the MutYH gene - in 14 patients. According to our results, patients with more than 100 polyps should undergo colectomy before 25 y.o.