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Article

Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A.

Human mutation - 1 Jun 2010

McKenzie Heather A, Fung Carina, Becker Therese M, Irvine Mal, Mann Graham J, Kefford Richard F, Rizos Helen

Abstract excerpt

Inherited mutations affecting the INK4a/ARF locus (CDKN2A) are associated with melanoma susceptibility in 40% of multiple case melanoma families. Over 60 different germline INK4a/ARF mutations have been detected in more than 190 families worldwide. The majority of these alterations are missense mutations affecting p16(INK4a), and only 25% of these have been functionally assessed. There is therefore a need for an...

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Source

Identifiers

PMID: 20340136
DOI: 10.1002/humu.21245

Genes

CDK4
CDK6

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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