Vnitr Lek 1996, 42(3):188-190

[Use of molecular genetics in the early diagnosis of familial adenomatous polyposis].

J Simko, V Zajac: Centrum lekárskej genetiky, Bratislava.

Klíčová slova: Adenomatous Polyposis Coli, diagnosis, ; Genes, APC; Genetic Markers; Humans; Molecular Biology; Mutation; Pedigree

Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary precancerous condition manifested by hundreds to thousands of polyps in the colon and rectum. Practically, with a 100% certainty, patients with FAP develop carcinoma of the colon or rectum. FAP is this the most dangerous sign of a precancerous condition. So far the only possibility of early diagnosis of this disease was rectoscopy or colonoscopy of risk subjects after annual intervals up to advanced age, After localization of the gene responsible for the development of FAP and discovery of its internal structure, possibilities for revealing FAP, decades before the first clinical symptoms appear, were disclosed.