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Article

Sporadic multiple primary melanoma cases: CDKN2A germline mutations with a founder effect.

Genes, chromosomes & cancer - 1 Nov 2001

Auroy S, Avril M F, Chompret A, Pham D, Goldstein A M, Bianchi-Scarrà G, Frebourg T, Joly P, Spatz A, Rubino C, Demenais F, Bressac-de Paillerets B

Abstract excerpt

Multiple primary cancers are one of the hallmarks of inherited predisposition. Outside the familial context, multiple primary tumors could be related either to germline de novo mutations or to low-penetrance mutations, in predisposing genes. We selected 100 patients who displayed multiple primary melanoma (MPM) without any known melanoma cases recorded within their families and looked for germline mutations in...

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Identifiers

PMID: 11579459
DOI: 10.1002/gcc.1183

Genes

CDK4

Variants

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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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