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Article

Functional Characterization of a Genetic Variant in the 5' UTR of APC 1B Promoter in a Familial Adenomatous Polyposis Family.

American journal of medical genetics. Part A - 1 Jul 2025

Young Brendon, Neklason Deborah W, Clark Kathleen, Feng Bing-Jian, Keener Megan B, Tuohy Thérèse M, Wood Austin, McKinnon Wendy C, Greenblatt Marc S, Tavtigian Sean V

Abstract excerpt

Pathogenic germline variants in the APC gene result in familial adenomatous polyposis (FAP) which can escalate into colon cancer. Standard clinical testing failed to identify pathogenic variants in a 4-generation FAP family. We identified and assessed co-segregation of a 5' untranslated region (UTR) variant, NM_001127511.3 (APC) c.-40G>A (GRCh37 chr5:112043375) that creates a potential out-of-frame AUG start...

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Share to Adenomatous Polyposis Coli

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 40062631
DOI: 10.1002/ajmg.a.63992

Genes

APC
FAP

Provenance

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