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

The UMD-APC database, a model of nation-wide knowledge base: update with data from 3,581 variations.

Human mutation - 1 May 2014

Grandval Philippe, Blayau Martine, Buisine Marie-Pierre, Coulet Florence, Maugard Christine, Pinson Stéphane, Remenieras Audrey, Tinat Julie, Uhrhammer Nancy, Béroud Christophe, Olschwang Sylviane

Abstract excerpt

Familial adenomatous polyposis (FAP) is a rare autosomal-inherited disease that highly predisposes to colorectal cancer, characterized by a diffuse duodenal and colorectal polyposis associated with various extradigestive tumors and linked to germline mutations within the APC gene. A French consortium of laboratories involved in APC mutation screening has progressively improved the description of the variation...

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 Adenomatous Polyposis Coli Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Colorectal Neoplasms

Share to Databases, Genetic

Share to France

Share to Genetic Counseling

Share to Genetic Testing

Share to Mutation

Source

Identifiers

PMID: 24599579
DOI: 10.1002/humu.22539

Genes

APC
FAP

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The UMD-APC database, a model of nation-wide knowledge base: update with data from 3,581 variations.PMID 24599579Read ↗

Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.Semantic proximity Read ↗

Systematic large-scale application of ClinGen InSiGHT<i>APC</i>-specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databasesSemantic proximity Read ↗

An update of the variant spectrum of the APC gene in Iranian familial adenomatous polyposis patients.Semantic proximity Read ↗

Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.Semantic proximity Read ↗

Expanding the Genetic Spectrum of Hereditary Polyposis Syndromes: A Multicenter Study from ArgentinaSemantic proximity Read ↗

Updated genetic testing in individuals with unexplained adenomatous polyposis and the diagnostic yield.Semantic proximity Read ↗

Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: APC. Disease: adenomatous polyposis coli.Semantic proximity Read ↗

APC-associated polyposis conditionsSemantic proximity Read ↗

Re-evaluating the genotypes of patients with adenomatous polyposis of unknown etiology: a nationwide study.Semantic proximity Read ↗

Novel and reported APC germline mutations in Chinese patients with familial adenomatous polyposis.Semantic proximity Read ↗

Genomic variations integrated database for MUTYH-associated adenomatous polyposis.Semantic proximity Read ↗

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