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Article

Novel CDKN2A mutations in Austrian melanoma patients.

Melanoma research - 1 Oct 2015

Burgstaller-Muehlbacher Sebastian, Marko Martha, Müller Christoph, Wendt Judith, Pehamberger Hubert, Okamoto Ichiro

Abstract excerpt

CDKN2A is the most prominent familial melanoma gene, with mutations occurring in up to 40% of the families. Numerous mutations in the gene are known, several of them representing regional founder mutations. We sought to determine, for the first time, germline mutations in CDKN2A in Austria to identify novel mutations. In total, 700 individuals (136 patients with a positive family history and 164 with at least two...

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Source

Identifiers

PMID: 26225579
DOI: 10.1097/CMR.0000000000000179

Genes

CDK4

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.

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