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Article

Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families.

Familial cancer - 1 Mar 2013

Schwarzová Lucie, Štekrová Jitka, Florianová Martina, Novotný Aleš, Schneiderová Michaela, Lněnička Petr, Kebrdlová Věra, Kotlas Jaroslav, Veselá Kamila, Kohoutová Milada

Abstract excerpt

Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome with almost 100 % risk of colorectal cancer. The typical FAP is characterized by hundreds to thousands of colorectal adenomatous polyps and by extracolonic manifestations, later onset and lower number of polyps in colon is characteristic of an attenuated form (AFAP). We analyzed the APC gene for germline mutations in 90 FAP/AFAP patients....

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Source

Identifiers

PMID: 22987206
DOI: 10.1007/s10689-012-9569-8

Genes

APC
FAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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