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Article

Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis.

Human mutation - 1 Jul 2012

Spier Isabel, Horpaopan Sukanya, Vogt Stefanie, Uhlhaas Siegfried, Morak Monika, Stienen Dietlinde, Draaken Markus, Ludwig Michael, Holinski-Feder Elke, Nöthen Markus M, Hoffmann Per, Aretz Stefan

Abstract excerpt

To uncover pathogenic deep intronic variants in patients with colorectal adenomatous polyposis, in whom no germline mutation in the APC or MUTYH genes can be identified by routine diagnostics, we performed a systematic APC messenger RNA analysis in 125 unrelated mutation-negative cases. Overall, we identified aberrant transcripts in 8% of the patients (familial cases 30%; early-onset manifestation 21%). In eight...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22431159
DOI: 10.1002/humu.22082

Genes

APC
MUTYH

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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