Role of molecular diagnostic testing in familial adenomatous polyposis andhereditary nonpolyposis colorectal cancer families

Citation
R. Rabelo et al., Role of molecular diagnostic testing in familial adenomatous polyposis andhereditary nonpolyposis colorectal cancer families, DIS COL REC, 44(3), 2001, pp. 437-446
Citations number
46
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Gastroenerology and Hepatology
Journal title
DISEASES OF THE COLON & RECTUM
ISSN journal
0012-3706 → ACNP
Volume
44
Issue
3
Year of publication
2001
Pages
437 - 446
Database
ISI
SICI code
0012-3706(200103)44:3<437:ROMDTI>2.0.ZU;2-#
Abstract
PURPOSE: Genetic tests are available for familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer. The goal of this review was to develop an algorithm for application of molecular diagnostic techniques to the management of hereditary colorectal carcinoma and to familiarize the cl inician with the vocabulary of molecular genetic testing for hereditary col orectal carcinoma. METHODS: Studies examining the clinical use of genetic t esting for hereditary colorectal carcinoma syndromes are evaluated. Recent advances in molecular genetic technology are reviewed, and clinical managem ent as practiced here and elsewhere is outlined. RESULTS: This review is a guide to the most reliable molecular diagnostic techniques. Three key quest ions are answered: who, when, and how to test. CONCLUSIONS: When integrated with existing testing protocols fur colorectal carcinoma and when applied with appropriate caveats, particularly regarding interpretation of negative results, genetic testing can result in improved management of patients and families.