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Article

A new germline stop codon mutation in exon 15 of the APC gene predisposing to familial adenomatous polyposis.

The International journal of biological markers - 17 Dec 2013

Schirosi Laura, Pellegrino Marcello, Tarantino Paolo, Mauro Salvatore, Tinelli Andrea, Greco Marilena

Abstract excerpt

Familial adenomatous polyposis (FAP) is an autosomal dominant disorder related to germline mutations of the adenomatous polyposis coli (APC) gene. It is characterized by the detection of numerous adenomatous polyps that, if untreated, develop into colorectal cancer. We studied an Italian family with FAP history and the related colorectal tumor sample of the proband. Sequencing analysis of blood samples revealed...

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Source

Identifiers

PMID: 23873622
DOI: 10.5301/jbm.5000042

Genes

APC
FAP

Variants

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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