Germline variants in CDKN2A wild-type melanoma prone families.

Abstract excerpt

Germline pathogenic variants in CDKN2A are well established as an underlying cause of familial malignant melanoma. While pathogenic variants in other genes have also been linked to melanoma, most familial cases remain unexplained. We assessed pathogenic germline variants in 360 cancer-related genes in 56 Norwegian melanoma-prone families. The index cases were selected based on familial history of melanoma and/or...

Topics

• Humans
• Melanoma
• Germ-Line Mutation
• Female
• Male
• Genetic Predisposition to Disease
• Cyclin-Dependent Kinase Inhibitor p16