Prevalence of Familial Melanoma Genes and Cancer Risk Among Genomically Ascertained Individuals - PubMed
2 hours ago
- #Familial Melanoma
- #Cancer Risk
- #Germline Variants
- Study estimates prevalence of pathogenic variants in familial melanoma genes and associated cancer risks using genome-first analysis of UK Biobank and Geisinger MyCode cohorts.
- Pathogenic variant prevalence ranged from 0.5% to 0.9% across eight genes; exceeded 2.5% in those with multiple melanomas or early-onset melanoma, supporting testing recommendations.
- Findings confirm known cancer associations for CDKN2A, MITF E318K, and POT1, and suggest broader cancer risks for BAP1, CDKN2A, MITF E318K, and POT1, including novel or inconsistent associations.