Germline mutations predisposing to melanoma
| Autor: | Atrin Toussi, Jeanna L Welborn, Maija Ht Kiuru, Nicole Mans |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Pathology
p16 Shelterin Complex 030207 dermatology & venereal diseases 0302 clinical medicine CDKN2A 80 and over 2.1 Biological and endogenous factors Aetiology Hereditary Melanoma Melanoma Telomerase Cancer Aged 80 and over Nevus Pigmented BAP1 Middle Aged Melanocytic nevus Phenotype germline mutation 030220 oncology & carcinogenesis Melanocortin Receptor Melanocortin Type 1 Ubiquitin Thiolesterase hereditary Receptor Type 1 Adult medicine.medical_specialty Histology Adolescent Genetic counseling Telomere-Binding Proteins Clinical Sciences Dermatology Article Pathology and Forensic Medicine Young Adult 03 medical and health sciences Rare Diseases Germline mutation Pigmented melanoma Genetics medicine Humans Genetic Predisposition to Disease melanocytic nevus Genetic Testing Nevus neoplasms Germ-Line Mutation Cyclin-Dependent Kinase Inhibitor p16 Aged Microphthalmia-Associated Transcription Factor business.industry Genes p16 Tumor Suppressor Proteins Dermatology & Venereal Diseases Cyclin-Dependent Kinase 4 medicine.disease Genes Cancer research business |
| Zdroj: | Journal of cutaneous pathology, vol 47, iss 7 J Cutan Pathol |
| ISSN: | 1600-0560 0303-6987 |
| Popis: | Nearly 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. |
| Databáze: | OpenAIRE |
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