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

Haplotype analysis and age estimation of the 113insR CDKN2A founder mutation in Swedish melanoma families.

Genes, chromosomes & cancer - 1 Jun 2001

Hashemi J, Bendahl P O, Sandberg T, Platz A, Linder S, Stierner U, Olsson H, Ingvar C, Hansson J, Borg A

Abstract excerpt

Germline mutations in the CDKN2A tumor suppressor gene located on 9p21 have been linked to development of melanomas in some families. A germline 3-bp insertion in exon 2 of CDKN2A, leading to an extra arginine at codon 113 (113insR), has been identified in 17 Swedish melanoma families. Analysis o...

Read the complete abstract on PubMed

Topics

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

Share to Arginine
Share to Founder Effect
Share to Genes, p16

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Carrier Screening

Share to Likelihood Functions

Share to Melanoma

Share to Mutagenesis, Insertional

Share to Sweden

Source

Identifiers

PMID: 11319798
DOI: 10.1002/gcc.1124

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-11319798-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

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

Haplotype analysis and age estimation of the 113insR CDKN2A founder mutation in Swedish melanoma families.PMID 11319798Read ↗

A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families.Semantic proximity Read ↗

CDKN2A germ-line mutations in individuals with multiple cutaneous melanomas.Semantic proximity Read ↗

Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds.Semantic proximity Read ↗

Screening of Germline Mutations in the CDKN2A and CDKN2B Genes in Swedish Families With Hereditary Cutaneous MelanomaSemantic proximity Read ↗

The M53I mutation in CDKN2A is a founder mutation that predominates in melanoma patients with Scottish ancestry.Semantic proximity Read ↗

High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families.Semantic proximity Read ↗

A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees.Semantic proximity Read ↗

Mutation screening of the CDKN2A promoter in melanoma families.Semantic proximity Read ↗

A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.Semantic proximity Read ↗

Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds.Semantic proximity Read ↗

Loss of the p16INK4a and p15INK4b genes, as well as neighboring 9p21 markers, in sporadic melanoma.Semantic proximity Read ↗

Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locusSemantic proximity Read ↗

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