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Prevalence and Phenotypes of APCand MUTYHMutations in Patients With Multiple Colorectal Adenomas

Prevalence and Phenotypes of APCand MUTYHMutations in Patients With Multiple Colorectal Adenomas ORIGINAL CONTRIBUTION Prevalence and Phenotypes of APC and MUTYH Mutations in Patients With Multiple Colorectal Adenomas Shilpa Grover, MD, MPH Context Patients with multiple colorectal adenomas may carry germline mutations Fay Kastrinos, MD, MPH in the APC or MUTYH genes. Ewout W. Steyerberg, PhD Objectives To determine the prevalence of pathogenic APC and MUTYH muta- tions in patients with multiple colorectal adenomas who had undergone genetic test- E. Francis Cook, ScD ing and to compare the prevalence and clinical characteristics of APC and MUTYH Akriti Dewanwala, MD mutation carriers. Lynn Anne Burbidge, BS Design, Setting, and Participants Cross-sectional study conducted among 8676 individuals who had undergone full gene sequencing and large rearrangement analy- Richard J. Wenstrup, MD sis of the APC gene and targeted sequence analysis for the 2 most common MUTYH Sapna Syngal, MD, MPH mutations (Y179C and G396D) between 2004 and 2011. Individuals with either mu- tation underwent full MUTYH gene sequencing. APC and MUTYH mutation preva- HE PRESENCE OF MULTIPLE CO- lence was evaluated by polyp burden; the clinical characteristics associated with a patho- lorectal adenomas may be at- genic mutation were evaluated using logistic regression analyses. tributable to familial adenoma- Main Outcome Measure Prevalence of http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA American Medical Association

Prevalence and Phenotypes of APCand MUTYHMutations in Patients With Multiple Colorectal Adenomas

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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.2012.8780
pmid
22851115
Publisher site
See Article on Publisher Site

Abstract

ORIGINAL CONTRIBUTION Prevalence and Phenotypes of APC and MUTYH Mutations in Patients With Multiple Colorectal Adenomas Shilpa Grover, MD, MPH Context Patients with multiple colorectal adenomas may carry germline mutations Fay Kastrinos, MD, MPH in the APC or MUTYH genes. Ewout W. Steyerberg, PhD Objectives To determine the prevalence of pathogenic APC and MUTYH muta- tions in patients with multiple colorectal adenomas who had undergone genetic test- E. Francis Cook, ScD ing and to compare the prevalence and clinical characteristics of APC and MUTYH Akriti Dewanwala, MD mutation carriers. Lynn Anne Burbidge, BS Design, Setting, and Participants Cross-sectional study conducted among 8676 individuals who had undergone full gene sequencing and large rearrangement analy- Richard J. Wenstrup, MD sis of the APC gene and targeted sequence analysis for the 2 most common MUTYH Sapna Syngal, MD, MPH mutations (Y179C and G396D) between 2004 and 2011. Individuals with either mu- tation underwent full MUTYH gene sequencing. APC and MUTYH mutation preva- HE PRESENCE OF MULTIPLE CO- lence was evaluated by polyp burden; the clinical characteristics associated with a patho- lorectal adenomas may be at- genic mutation were evaluated using logistic regression analyses. tributable to familial adenoma- Main Outcome Measure Prevalence of

Journal

JAMAAmerican Medical Association

Published: Aug 1, 2012

References