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Article

Prevalence of Germline BAP1, CDKN2A, and CDK4 Mutations in an Australian Population-Based Sample of Cutaneous Melanoma Cases.

Twin research and human genetics : the official journal of the International Society for Twin Studies - 1 Apr 2015

Aoude Lauren G, Gartside Michael, Johansson Peter, Palmer Jane M, Symmons Judith, Martin Nicholas G, Montgomery Grant W, Hayward Nicholas K

Abstract excerpt

Mutations in Cyclin-Dependent Kinase Inhibitor 2A (CDKN2A) and Cyclin-Dependent Kinase 4 (CDK4) contribute to susceptibility in approximately 40% of high-density cutaneous melanoma (CMM) families and about 2% of unselected CMM cases. BRCA-1 associated protein-1 (BAP1) has been more recently shown to predispose to CMM and uveal melanoma (UMM) in some families; however, its contribution to CMM development in the...

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Identifiers

PMID: 25787093
DOI: 10.1017/thg.2015.12

Genes

BAP1
CDK4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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