Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

APC mosaicism in a young woman with desmoid type fibromatosis and familial adenomatous polyposis.

Familial cancer - 1 Oct 2018

Stormorken Astrid Tenden, Berg Thomas, Norum Ole-Jacob, Hølmebakk Toto, Aaberg Kristin, Steigen Sonja E, Grindedal Eli Marie

Abstract excerpt

Familial adenomatous polyposis (FAP) is usually caused by germline mutations in the adenomatous polyposis coli (APC) gene. The classic form is characterized by hundreds to thousands of adenomas in the colorectum and early onset colorectal cancer (CRC) if left untreated. FAP is also associated with multiple extra-colonic manifestations such as gastroduodenal polyps, osteomas, epidermoid cysts, fibromas and...

Topics

Adenomatous Polyposis Coli
Adenomatous Polyposis Coli Protein
Adult
Female
Fibromatosis, Abdominal
Desmoid Tumors
Humans
Mosaicism
Mutation

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Open in PubMed Open full text

Identifiers

PMID: 29368261
DOI: 10.1007/s10689-018-0072-8
PMCID: PMC6182574

Genes

APC
FAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

APC mosaicism in a young woman with desmoid type fibromatosis and familial adenomatous polyposis.PMID 29368261Read ↗

Desmoid Tumors in Familial Adenomatous PolyposisSemantic proximity Read ↗

Desmoid tumors complicating Familial Adenomatous Polyposis: a meta-analysis mutation spectrum of affected individuals.Semantic proximity Read ↗

Desmoid tumours in familial adenomatous polyposis.Semantic proximity Read ↗

Desmoid tumour biology in patients with familial adenomatous polyposis coli.Semantic proximity Read ↗

Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis.Semantic proximity Read ↗

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

A germline mutation at the extreme 3' end of the APC gene results in a severe desmoid phenotype and is associated with overexpression of beta-catenin in the desmoid tumor.Semantic proximity Read ↗

Familial adenomatous polyposis: not all masses are desmoids.Semantic proximity Read ↗

Gardner syndrome in an adolescent girl presenting with multifocal desmoid fibromatosis and a pathogenic APC mutationSemantic proximity Read ↗

Familial adenomatous polyposis.Semantic proximity Read ↗

Multiple desmoid tumors in a patient with familial adenomatous polyposis caused by the novel W421X mutation.Semantic proximity Read ↗

Approach to screening for Familial Adenomatous Polyposis (FAP) in a cohort of 226 patients with Desmoid-type Fibromatosis (DF): experience of a specialist center in the UK.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.