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...
Topics
- Humans
- Melanoma
- Skin Neoplasms
- Genetic Predisposition to Disease
- Penetrance
- Genetic Risk Score
- Female
- Male
- Polymorphism, Single Nucleotide
- Middle Aged
- Exome Sequencing
- Receptor, Melanocortin, Type 1
- Multifactorial Inheritance