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Identification of Novel Pathogenic Variants in Familial Adenomatous Polyposis Through Whole Genome Sequencing.

Human mutation - 1 Jan 2026

Choi Sung-Ryung, Kim Min Jung, Ku Ja-Lok, Jeong Seung-Yong, Choi Murim, Park Ji Won

Abstract excerpt

Familial adenomatous polyposis (FAP) is an autosomal dominant colorectal cancer predisposition syndrome most commonly caused by pathogenic variants in the APC gene. Although targeted gene panel sequencing is routinely used, some FAP cases remain genetically unresolved due to limitations in detecting structural and deep intronic variants. We investigated two unrelated kindreds with clinically evident but...

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Identifiers

PMID: 42621862
DOI: 10.1155/humu/1896928
PMCID: PMC13487699

Genes

FAP
APC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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