Germline mutations predisposing to melanoma
Copyright policy )Germline mutations predisposing to melanoma
AbstractNearly 15% of melanomas occur in patients with a family history and a subset of these patients have a germline mutation in a melanoma predisposing gene. CDKN2A mutations are responsible for the majority of hereditary melanoma, but many other susceptibility genes have been discovered in recent years, including CDK4, TERT, ACD, TERF2IP, POT1, MITF, MC1R, and BAP1. Additionally, melanoma risk is increased in mixed cancer syndromes caused by mutations in PTEN, BRCA2, BRCA1, RB1, and TP53. While early onset, multiple tumors, and family cancer history remain the most valuable clinical clues for hereditary melanoma, characteristic epithelioid cytology of melanocytic tumors may suggest an underlying BAP1 mutation. Herein, we review the clinical and histopathologic characteristics of melanocytic tumors associated with these germline mutations and discuss the role of genetic counseling.
- University of California, San Francisco United States
- University of California, Davis United States
- UNIVERSITY OF CALIFORNIA AT DAVIS
- UNIVERSITY OF CALIFORNIA AT DAVIS
- UC Davis Comprehensive Cancer Center United States
Adult, Adolescent, Oncology and Carcinogenesis, Clinical Sciences, Telomere-Binding Proteins, p16, Clinical sciences, Shelterin Complex, Young Adult, CDKN2A, Rare Diseases, Pigmented, Genetics, 80 and over, melanoma, 2.1 Biological and endogenous factors, Humans, Genetic Predisposition to Disease, Genetic Testing, melanocytic nevus, Aetiology, Nevus, Melanoma, Telomerase, Cyclin-Dependent Kinase Inhibitor p16, Germ-Line Mutation, Cancer, Aged, Aged, 80 and over, Microphthalmia-Associated Transcription Factor, Nevus, Pigmented, Biomedical and Clinical Sciences, Dermatology & Venereal Diseases, Genes, p16, Tumor Suppressor Proteins, Cyclin-Dependent Kinase 4, Middle Aged, Phenotype, Genes, germline mutation, Melanocortin, Ubiquitin Thiolesterase, hereditary, Receptor, Melanocortin, Type 1, Receptor, Type 1
Adult, Adolescent, Oncology and Carcinogenesis, Clinical Sciences, Telomere-Binding Proteins, p16, Clinical sciences, Shelterin Complex, Young Adult, CDKN2A, Rare Diseases, Pigmented, Genetics, 80 and over, melanoma, 2.1 Biological and endogenous factors, Humans, Genetic Predisposition to Disease, Genetic Testing, melanocytic nevus, Aetiology, Nevus, Melanoma, Telomerase, Cyclin-Dependent Kinase Inhibitor p16, Germ-Line Mutation, Cancer, Aged, Aged, 80 and over, Microphthalmia-Associated Transcription Factor, Nevus, Pigmented, Biomedical and Clinical Sciences, Dermatology & Venereal Diseases, Genes, p16, Tumor Suppressor Proteins, Cyclin-Dependent Kinase 4, Middle Aged, Phenotype, Genes, germline mutation, Melanocortin, Ubiquitin Thiolesterase, hereditary, Receptor, Melanocortin, Type 1, Receptor, Type 1
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