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

Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli.

Human molecular genetics - 1 Jan 1994

Gayther S A, Wells D, SenGupta S B, Chapman P, Neale K, Tsioupra K, Delhanty J D

Abstract excerpt

Germline mutation in APC at 5q21-22 results in the dominantly inherited syndrome adenomatous polyposis coli (APC). Somatic mutation in this gene is an early event in colorectal tumourigenesis. Both types of mutation are concentrated in the 5' half of exon 15. We have used single strand conformational polymorphism (SSCP) and heteroduplex analysis to screen for variants in this region of the gene in a total of 45...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Chromosome Mapping

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

Share to DNA Primers

Share to Mutation

Share to Pedigree

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 8162051
DOI: 10.1093/hmg/3.1.53

Genes

APC

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

Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli.PMID 8162051Read ↗

Novel germline APC gene mutation in a large familial adenomatous polyposis kindred displaying variable phenotypes.Semantic proximity Read ↗

Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis.Semantic proximity Read ↗

Characterization of APC exon 15 germ-line mutation in FAP family with severe phenotype showing extracolonic symptoms.Semantic proximity Read ↗

The mutation spectrum of the APC gene in FAP patients from southern Italy: detection of known and four novel mutations.Semantic proximity Read ↗

Rapid detection of rare variants and common polymorphisms in the APC gene by PCR-SSCP for presymptomatic diagnosis and showing allele loss.Semantic proximity Read ↗

APC mutations in human colorectal adenomas: analysis of the mutation cluster region with temperature gradient gel electrophoresis and clinicopathological features.Semantic proximity Read ↗

Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature.Semantic proximity Read ↗

Novel mutations in the APC gene and clinical features in Swedish patients with polyposis coli.Semantic proximity Read ↗

APC Mutations Are Not Confined to Hotspot Regions in Early-Onset Colorectal CancerSemantic proximity Read ↗

Familial adenomatous polyposis patients without an identified APC germline mutation have a severe phenotype.Semantic proximity Read ↗

Alleles of the APC gene: an attenuated form of familial polyposis.Semantic proximity Read ↗

Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.Semantic proximity Read ↗

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