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Article

Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP).

Human mutation - 1 Oct 2007

Aretz Stefan, Stienen Dietlinde, Friedrichs Nicolaus, Stemmler Susanne, Uhlhaas Siegfried, Rahner Nils, Propping Peter, Friedl Waltraut

Abstract excerpt

Somatic mutational mosaicism presents a challenge for both molecular and clinical diagnostics and may contribute to deviations from predicted genotype-phenotype correlations. During APC mutation screening in 1,248 unrelated patients with familial adenomatous polyposis (FAP), we identified 75 cases with an assumed or confirmed de novo mutation. Prescreening methods (protein truncation test [PTT], DHPLC) indicated...

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Source

Identifiers

PMID: 17486639
DOI: 10.1002/humu.20549

Genes

FAP
APC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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