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APCGene Testing for Familial Adenomatosis Polyposis

APCGene Testing for Familial Adenomatosis Polyposis Editorials represent the opinions EDITORIAL of the authors and JAMA and not those of the American Medical Association. APC Gene Testing for Familial Adenomatosis Polyposis ing. Thus, identifying patients most likely to benefit from gene Hemant K. Roy, MD testing is paramount. Toward this end, the report by Grover Janardan D. Khandekar, MD and colleagues in this issue of JAMA is a much-needed analy- sis of the APC/MUTYH mutational yield stratified by polyp LTHOUGH GENOMICS IS DESTINED TO REVOLUTION- number—the major indication for testing. This comprehen- ize clinical medicine, to date its beneficial effects sive, rigorously performed study provides insight into real- have been somewhat muted. The promise and per- life performance of these assays. In their investigation involv- Ails of genomics are emblemized by one of its flag- ing 8676 unrelated patients who underwent APC/MUTYH ship applications, namely the diagnosis of familial adeno- mutation analysis at a major commercial laboratory, the au- matosis polyposis (FAP). FAP is an autosomal dominant thors noted that APC mutations correlated with degree of pol- syndrome characterized by numerous colonic adenomas yposis, whereas the frequency of MUTYH mutations was rela- which, without recognition and intervention, generally re- tively constant, albeit low, over a http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA American Medical Association

APCGene Testing for Familial Adenomatosis Polyposis

JAMA , Volume 308 (5) – Aug 1, 2012

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Publisher
American Medical Association
Copyright
Copyright 2012 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.
ISSN
0098-7484
eISSN
1538-3598
DOI
10.1001/jama.2012.9516
pmid
22851119
Publisher site
See Article on Publisher Site

Abstract

Editorials represent the opinions EDITORIAL of the authors and JAMA and not those of the American Medical Association. APC Gene Testing for Familial Adenomatosis Polyposis ing. Thus, identifying patients most likely to benefit from gene Hemant K. Roy, MD testing is paramount. Toward this end, the report by Grover Janardan D. Khandekar, MD and colleagues in this issue of JAMA is a much-needed analy- sis of the APC/MUTYH mutational yield stratified by polyp LTHOUGH GENOMICS IS DESTINED TO REVOLUTION- number—the major indication for testing. This comprehen- ize clinical medicine, to date its beneficial effects sive, rigorously performed study provides insight into real- have been somewhat muted. The promise and per- life performance of these assays. In their investigation involv- Ails of genomics are emblemized by one of its flag- ing 8676 unrelated patients who underwent APC/MUTYH ship applications, namely the diagnosis of familial adeno- mutation analysis at a major commercial laboratory, the au- matosis polyposis (FAP). FAP is an autosomal dominant thors noted that APC mutations correlated with degree of pol- syndrome characterized by numerous colonic adenomas yposis, whereas the frequency of MUTYH mutations was rela- which, without recognition and intervention, generally re- tively constant, albeit low, over a

Journal

JAMAAmerican Medical Association

Published: Aug 1, 2012

References