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(2012)
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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
JAMA – American Medical Association
Published: Aug 1, 2012
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