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Article

Genetic architecture of multiple primary cutaneous melanoma in the absence of high-penetrance susceptibility genes.

The Journal of investigative dermatology - 1 Aug 2026

Johansson Peter A, Palmer Jane M, Brooks Kelly M, Herbert Chan Hsien, Pritchard Antonia L, Wilson Denise, Martin Linda K, Guitera Pascale, Hayward Nicholas K

Abstract excerpt

Inherited genetic susceptibility to cutaneous melanoma ranges from common low-risk variants to rare high-penetrance variants. Although highly penetrant variants in genes such as CDKN2A explain many cases with multiple primary melanomas, a substantial proportion of patients are negative for known high-penetrance drivers. We studied 79 patients with 5 or more melanomas who tested negative for pathogenic variants in...

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Identifiers

PMID: 41763641
DOI: 10.1016/j.jid.2026.02.012

Genes

CDKN2A
MC1R

Provenance

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