Low adenoma burden in unselected patients with a pathogenic APC variant.

Rachel Schwiter,Heather Rocha,Alicia Johns,Juliann M Savatt, David L Diehl,Melissa A Kelly,Marc S Williams,Adam H Buchanan

Genetics in medicine : official journal of the American College of Medical Genetics（2023）

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摘要

APC P/LP variant prevalence estimate in the MyCode cohort is higher than prior published prevalence rates. Individuals with APC P/LP variants identified via genomic screening had a low adenoma burden.

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关键词

APC gene,Familial adenomatous polyposis,Genetic counseling,Genomic screening

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