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Article

A novel APC promoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype.

Genes, chromosomes & cancer - 1 Dec 2017

Marabelli Monica, Gismondi Viviana, Ricci Maria Teresa, Vetro Annalisa, Abou Khouzam Raefa, Rea Valentina, Vitellaro Marco, Zuffardi Orsetta, Varesco Liliana, Ranzani Guglielmina Nadia

Abstract excerpt

Familial adenomatous polyposis is a Mendelian syndrome in which germline loss-of-function mutations of APC are associated with multiple adenomatous polyps of the large bowel, a multiplicity of extracolonic features, and a high lifetime risk of colorectal cancer. Different APC germline mutations have been identified, including sequence changes, genomic rearrangements, and expression defects. Recently, very rare...

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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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Identifiers

PMID: 28791770
DOI: 10.1002/gcc.22488

Genes

APC

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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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A novel APC promoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype.PMID 28791770Read ↗

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