APC Gene Testing for Familial Adenomatosis Polyposis

Although genomics is intended to revolutionize clinical medicine, to date its beneficial effects have been somewhat muted. The promise and perils of genomics are emblemized by one of its flagship applications, namely the diagnosis of familial adenomatosis polyposis (FAP). Approximately two decades a...

Full description

Saved in:
Bibliographic Details
Published in:JAMA : the journal of the American Medical Association 2012-08, Vol.308 (5), p.514-515
Main Authors: Roy, Hemant K, Khandekar, Janardan D
Format: Article
Language:English
Subjects:
Adenoma - genetics
Adenomatous Polyposis Coli - genetics
Adenomatous Polyposis Coli Protein - genetics
Colorectal Neoplasms - genetics
DNA Glycosylases - genetics
Female
Genetic testing
Genomics
Humans
Male
Mutation
Tumors
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Although genomics is intended to revolutionize clinical medicine, to date its beneficial effects have been somewhat muted. The promise and perils of genomics are emblemized by one of its flagship applications, namely the diagnosis of familial adenomatosis polyposis (FAP). Approximately two decades ago, it was discovered that germline mutations of the adenomatous polyposis coli (APC) tumor suppressor gene with concomitant overactivity in the Wingless-type mouse mammary tumor virus integration site signaling cascade were responsible for most (approximately 80%-90%) FAP cases. More recently, a small subset of FAP cases were attributed to biallelic germline mutations of the base excision-repair gene mutY homologue (MUTYH). Commercial assays for APC and MUTYH fostered rapid implementation of these scientific advances into clinical practice through widespread availability, thereby substantially influencing patient care. Here, Roy and Khandekar comment on Shilpa Grovel and colleagues' investigation on the prevalence of pathogenic APC and MUTYH mutations in patients with multiple colorectal adenomas who had undergone genetic testing and to compare the prevalence and clinical characteristics of APC and MUTYH mutation carriers.
ISSN:0098-7484
1538-3598
DOI:10.1001/jama.2012.9516