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A Patient With Desmoid Tumors and Familial FAP Having Frame Shift Mutation of the APC Gene.

Acta medica Iranica - 1 Feb 2017

Sadighi Sanambar, Ghaffari-Moghaddam Mahsa, Saffari Mojtaba, Mohagheghi Mohammad Ali, Shirkoohi Reza

Abstract excerpt

Desmoids tumors, characterized by monoclonal proliferation of myofibroblasts, could occur in 5-10% of patients with familial adenomatous polyposis (FAP) as an extra-colonic manifestation of the disease. FAP can develop when there is a germ-line mutation in the adenomatous polyposis coli gene. Although mild or attenuated FAP may follow mutations in 5΄ extreme of the gene, it is more likely that 3΄ extreme...

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Source

Identifiers

PMID: 28282712

Genes

FAP
APC

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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A Patient With Desmoid Tumors and Familial FAP Having Frame Shift Mutation of the APC Gene.PMID 28282712Read ↗

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Evidence for genetic predisposition to desmoid tumours in familial adenomatous polyposis independent of the germline APC mutation.Semantic proximity Read ↗

Desmoid tumor patients carry an elevated risk of familial adenomatous polyposis.Semantic proximity Read ↗

Phenotype-genotype correlations in an extended family with adenomatosis coli and an unusual APC gene mutation.Semantic proximity Read ↗

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Clinical and cellular studies in the pathogenesis of desmoid tumours in familial adenomatous polyposis (FAP)Semantic proximity Read ↗

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