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Article

Gene variants associated to malignant thyroid disease in familial adenomatous polyposis: a novel APC germline mutation.

Journal of endocrinological investigation - 1 Oct 2010

Martayan A, Sanchez-Mete L, Baldelli R, Falvo E, Barnabei A, Conti L, Giacomini P, Appetecchia M, Stigliano V

Abstract excerpt

BACKGROUND AND AIM: Familial adenomatous polyposis (FAP) is an autosomal inherited syndrome characterized by hundreds to thousands colorectal adenomatous polyps with oncological transformation lifetime risk of 100%. FAP is mainly associated with mutations in APC (autosomal dominant inheritance) or MUTYH (autosomal recessive inheritance) genes. Affected individuals are at increased risk of developing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20935450
DOI: 10.1007/BF03346656

Genes

APC
FAP
MUTYH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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