Genetic counseling and interpretation of genetic tests in familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer

Citation
N. Wong et al., Genetic counseling and interpretation of genetic tests in familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer, DIS COL REC, 44(2), 2001, pp. 271-279
Citations number
29
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
2
Year of publication
2001
Pages
271 - 279
Database
ISI
SICI code
0012-3706(200102)44:2<271:GCAIOG>2.0.ZU;2-H
Abstract
PURPOSE: Genetic counseling and interpreting genetic test results can be co mplex. Moreover, without knowing the limitations of the methods used and th e lifetime probability of developing cancer in individuals who carry a gene that predisposes to cancer, misinterpretation may lead to false assurance. The purpose of this review is to discuss how genetic counseling will benef it patients and their family, the genetic tests available for hereditary co lorectal cancer syndromes, and the interpretation of results. METHODS: Curr ent literature was reviewed and our clinical and research experiences were incorporated. RESULTS: This review serves as a guide to enable various heal th care providers to better counsel patients in their quest for advice on p revention, early detection, and surveillance for colorectal cancer. Notable topics of discussion are who should undergo genetic counseling and conside r testing and how the interpretation of test results can be misleading; for example, understanding the difference between a no mutation detected vs a negative test result. CONCLUSIONS: Genetic counseling is of paramount impor tance for patients to fully understand the limitations of genetic testing a nd will aid in the management of patients who are susceptible to colorectal cancer.