Discover Community Create You

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

Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation.

Human molecular genetics - 1 Dec 1996

Scott R J, Froggatt N J, Trembath R C, Evans D G, Hodgson S V, Maher E R

Abstract excerpt

Desmoid tumours are generally very rare but occur about 100 times more frequently in the colorectal cancer predisposition syndrome familial adenomatous polyposis (MIM 175100), being represented in about 10% of patients. In addition to desmoid disease occurring in familial adenomatous polyposis (F...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Codon
Share to Cytoskeletal Proteins
Share to APC gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to FAP gene

Share to Genes, APC

Share to Mutation

Share to Pedigree

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 8968744
DOI: 10.1093/hmg/5.12.1921

Genes

APC
FAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-8968744-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation.PMID 8968744Read ↗

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 ↗

High cumulative risk of colorectal cancers and desmoid tumours and fibromatosis in South Asian APC mutation carriers.Semantic proximity Read ↗

Desmoid Tumors in Familial Adenomatous PolyposisSemantic proximity Read ↗

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

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

Desmoid tumours in patients with familial adenomatous polyposis and desmoid region adenomatous polyposis coli mutations.Semantic proximity Read ↗

Phenotypic variation in hereditary nonpolyposis colon cancer syndrome. Association with infiltrative fibromatosis (desmoid tumor).Semantic proximity Read ↗

Desmoid tumor: a disease opportune for molecular insights.Semantic proximity Read ↗

Mutations of adenomatous polyposis coli (APC) gene are uncommon in sporadic desmoid tumours.Semantic proximity Read ↗

Chacterisation of desmoids in familial adenomatous polyposisSemantic proximity Read ↗

Desmoid tumours in 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 ↗

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