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Article

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

American journal of human genetics - 1 Aug 2000

Ciotti P, Struewing J P, Mantelli M, Chompret A, Avril M F, Santi P L, Tucker M A, Bianchi-Scarrà G, Bressac-de Paillerets B, Goldstein A M

Abstract excerpt

Germline mutations within the coding region of CDKN2A have been observed in affected members of melanoma-prone families. G101W is the most common CDKN2A missense mutation identified to date. It has been reported in several families from around the world, with a particularly high occurrence in France and Italy. Given the frequency of this mutation, we were interested in determining whether the mutation resulted...

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Identifiers

PMID: 10869234
DOI: 10.1086/303001
PMCID: PMC1287180

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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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