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Article

Promoter-specific alterations of APC are a rare cause for mutation-negative familial adenomatous polyposis.

Genes, chromosomes & cancer - 1 Oct 2014

Pavicic Walter, Nieminen Taina T, Gylling Annette, Pursiheimo Juha-Pekka, Laiho Asta, Gyenesei Attila, Järvinen Heikki J, Peltomäki Päivi

Abstract excerpt

n familial adenomatous polyposis (FAP), 20% of classical and 70% of attenuated/atypical (AFAP) cases remain mutation-negative after routine testing; yet, allelic expression imbalance may suggest an APC alteration. Our aim was to determine the proportion of families attributable to genetic or epigenetic changes in the APC promoter region. We studied 51 unrelated families/cases (26 with classical FAP and 25 with...

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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

Identifiers

PMID: 24946964
DOI: 10.1002/gcc.22197

Genes

APC
FAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Promoter-specific alterations of APC are a rare cause for mutation-negative familial adenomatous polyposis.PMID 24946964Read ↗

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