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

Autor:	Schwiter R; Department of Genomic Health, Geisinger, Danville, PA. Electronic address: rgschwiter1@geisinger.edu., Rocha H; Department of Genomic Health, Geisinger, Danville, PA., Johns A; Department of Population Health Sciences, Geisinger, Danville, PA., Savatt JM; Department of Genomic Health, Geisinger, Danville, PA., Diehl DL; Department of Medicine, Division of Gastroenterology and Hepatology, Geisinger, Danville, PA., Kelly MA; Department of Genomic Health, Geisinger, Danville, PA., Williams MS; Department of Genomic Health, Geisinger, Danville, PA., Buchanan AH; Department of Genomic Health, Geisinger, Danville, PA.
Jazyk:	angličtina
Zdroj:	Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Dec; Vol. 25 (12), pp. 100949. Date of Electronic Publication: 2023 Aug 02.
DOI:	10.1016/j.gim.2023.100949
Abstrakt:	Purpose: Genomic screening can improve clinical outcomes, but presentation of individuals with risk for polyposis identified via genomic screening is unknown. To inform assessment of clinical utility of genomic screening for polyposis risk, clinical presentation of individuals in an unselected health care system cohort with an APC pathogenic or likely pathogenic (P/LP) variant causative of familial adenomatous polyposis are described. Methods: Electronic health records of individuals with an APC P/LP variant identified via the MyCode program (MyCode APC+) were reviewed to assess adenoma burden and compare it among individuals with a clinical diagnosis of familial adenomatous polyposis and matched variant-negative controls. Results: The prevalence of APC P/LP variants in this health care cohort is estimated to be 1 in 2800. Twenty-four MyCode APC+ individuals were identified during the study period. Median age at result disclosure was 53 years. Rate of clinical polyposis was 8%. Two of six participants with a classic region variant and none of those with an attenuated region variant had polyposis. MyCode APC+ participants did not differ from controls in cumulative adenoma count. Conclusion: 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. Competing Interests: Conflict of Interest Heather Rocha has participated as a consultant with Invitae Scientific Advisory Board. Adam H. Buchanan has equity stake in MeTree and You, Inc. All other authors declare no conflicts of interest. (Copyright © 2023 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.)
Databáze:	MEDLINE
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