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

Genes, chromosomes & cancer - 1 Mar 2007

Lang Julie, Hayward Nicholas, Goldgar David, Tsao Hensin, Hogg David, Palmer Jane, Stark Mitchell, Tobias Edward S, MacKie Rona

Abstract excerpt

Germline mutations in the tumor suppressor gene CDKN2A have been shown to predispose to cutaneous malignant melanoma. The M53I mutation is the most common CDKN2A mutation identified in Scottish melanoma patients and is also found in a small number of families in other countries. The aim of this study was to determine whether the occurrence of this mutation is due to a common ancestor originating from Scotland,...

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Identifiers

PMID: 17171691
DOI: 10.1002/gcc.20410

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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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