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

Identification of previously unrecognized FAP in children with Gardner fibroma.

European journal of human genetics : EJHG - 1 May 2015

Vieira Joana, Pinto Carla, Afonso Mariana, do Bom Sucesso Maria, Lopes Paula, Pinheiro Manuela, Veiga Isabel, Henrique Rui, Teixeira Manuel R

Abstract excerpt

Fibromatous soft tissue lesions, namely desmoid-type fibromatosis and Gardner fibroma, may occur sporadically or as a result of inherited predisposition (as part of familial adenomatous polyposis, FAP). Whereas desmoid-type fibromatosis often present β-catenin overexpression (by activating CTNNB1 somatic variants or APC biallelic inactivation), the pathogenetic mechanisms in Gardner fibroma are unknown. We...

Read the complete abstract on PubMed

Topics

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

Share to Adenomatous Polyposis Coli
Share to beta Catenin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Aberrations

Share to Chromosome Banding

Share to Fibroma

Share to Genes, APC

Share to Immunohistochemistry

Share to Infant

Source

Open in PubMed Open full text

Identifiers

PMID: 25074465
DOI: 10.1038/ejhg.2014.144
PMCID: PMC4402623

Genes

APC
FAP
CTNNB1

Variants

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of previously unrecognized FAP in children with Gardner fibroma.PMID 25074465Read ↗

Novel pathogenic alterations in pediatric and adult desmoid-type fibromatosis – A systematic analysis of 204 casesSemantic proximity Read ↗

CTNNB1 genotyping and APC screening in pediatric desmoid tumors: a proposed algorithm.Semantic proximity Read ↗

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

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

Cutaneous desmoid-type fibromatosis: A rare case with molecular profiling.Semantic proximity Read ↗

Desmoid fibromatosis in a child with DICER1-related tumor predisposition.Semantic proximity Read ↗

Superficial fibromas with CTNNB1 mutation.Semantic proximity Read ↗

Desmoid-type fibromatosis of the head and neck region in the paediatric population: a clinicopathological and genetic study of seven cases.Semantic proximity Read ↗

Highly aggressive thoracic desmoid tumors in adolescent siblings with fatal outcomes in an FAP kindred: a need for increased vigilance and intervention in at-risk AYAs.Semantic proximity Read ↗

Neonatal Gardner fibroma: a sentinel presentation of severe familial adenomatous polyposis.Semantic proximity Read ↗

Lower Rate of CTNNB1 Mutations and Higher Rate of APC Mutations in Desmoid Fibromatosis of the Breast: A Series of 134 Tumors.Semantic proximity Read ↗

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

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