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 type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis.

Nature medicine - 1 Sept 1999

Lamlum H, Ilyas M, Rowan A, Clark S, Johnson V, Bell J, Frayling I, Efstathiou J, Pack K, Payne S, Roylance R, Gorman P, Sheer D, Neale K, Phillips R, Talbot I, Bodmer W, Tomlinson I

Abstract excerpt

APC is often cited as a prime example of a tumor suppressor gene. Truncating germline and somatic mutations (or, infrequently, allelic loss) occur in tumors in FAP (familial adenomatous polyposis). Most sporadic colorectal cancers also have two APC mutations. Clues from attenuated polyposis, missense germline variants with mild disease and the somatic mutation cluster region (codons 1,250-1,450) indicate,...

Read the complete abstract on PubMed

Topics

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

Share to Adenoma
Share to Adenomatous Polyposis Coli

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Desmoid Tumors

Share to Family Health

Share to Frameshift Mutation

Share to Genes, APC

Share to Germ-Line Mutation

Source

Identifiers

PMID: 10470088
DOI: 10.1038/12511

Genes

APC
FAP

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis.PMID 10470088Read ↗

APC mutations in FAP-associated desmoid tumours are non-random but not 'just right'.Semantic proximity Read ↗

Familial adenomatous polyposis: from bedside to benchside.Semantic proximity Read ↗

The 'just-right' signaling model: APC somatic mutations are selected based on a specific level of activation of the beta-catenin signaling cascade.Semantic proximity Read ↗

APC mutations in sporadic colorectal tumors: A mutational "hotspot" and interdependence of the "two hits".Semantic proximity Read ↗

Refining the relation between 'first hits' and 'second hits' at the APC locus: the 'loose fit' model and evidence for differences in somatic mutation spectra among patients.Semantic proximity Read ↗

Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation.Semantic proximity Read ↗

Mutation cluster region, association between germline and somatic mutations and genotype-phenotype correlation in upper gastrointestinal familial adenomatous polyposis.Semantic proximity Read ↗

Different combinations of biallelic APC mutation confer different growth advantages in colorectal tumours.Semantic proximity Read ↗

APC and the three-hit hypothesis.Semantic proximity Read ↗

APC-associated polyposis conditionsSemantic proximity Read ↗

Novel germline mutations in the APC gene and their phenotypic spectrum in familial adenomatous polyposis kindreds.Semantic proximity Read ↗

Genotype-phenotype correlations at the adenomatous polyposis coli (APC) gene.Semantic proximity Read ↗

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