Rare Germline Variants in CDKN2A-Negative Children and Adolescents With Cutaneous Melanoma.

ABSTRACT: Cutaneous melanoma is a complex disease influenced by both environmental and genetic factors. Inherited susceptibility plays a significant role, involving a combination of high-, intermediate- and low-penetrance genes. Melanoma in children and adolescents has been speculated to have a stronger genetic component due to the early onset. This study investigates germline variants in early-onset melanoma through exome sequencing of 154 patients in Australia diagnosed with cutaneous melanoma before the age of 20. Potentially pathogenic variants in shelterin complex genes were identified in 3% of the cases, consistent with a role for telomere dysregulation in early-onset melanoma. MC1R R-alleles, associated with red hair, fair skin and increased melanoma risk, were less frequent than in adult cas

SUBMITTER: Johansson PA 

PROVIDER: S-EPMC12916466 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature