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Article

A review of APC somatic mosaicism and specific APC variants - I1307K and promotor variants.

Familial cancer - 16 Apr 2025

Shur Shira, Sommer Anna K, Latchford Andrew, Spier Isabel, Katz Lior H

Abstract excerpt

In the majority of patients with a classical Familial Adenomatous Polyposis (FAP) a pathogenic APC germline variant is identified; usually these are truncating variants in the coding region of APC. However, there are some special circumstances in which FAP is not the result of a pathogenic heterozygous germline variant in APC (mosaicism) and tspecific APC variants which do not cause FAP (I1307K and promotor...

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Topics

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Share to Adenomatous Polyposis Coli
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40237877
DOI: 10.1007/s10689-025-00464-w
PMCID: PMC12003607

Genes

APC
FAP

Variants

Provenance

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