Article
Retrospective study of germline variants in patients with hereditary melanoma study criteria in a real clinical practice setting.
Clinical and experimental dermatology - 22 Nov 2024
Villa-Gonzalez Jose Maria, Carrera Revilla Sergio, Lombardero Gutiérrez Lara, Gardeazabal García Jesús
Abstract excerpt
BACKGROUND: Five to twelve per cent of melanoma cases show aggregation of melanomas or other related tumours within the same family or individual. Genes such as CDKN2A or BAP1, among others, have been associated with this condition. OBJECTIVES: To describe the epidemiology and clinical characteristics of patients in whom a germline genetic study was performed due to suspected hereditary melanoma. METHODS: This...
Topics
- Humans
- Melanoma
- Retrospective Studies
- Female
- Germ-Line Mutation
- Male
- Genetic Predisposition to Disease
- Middle Aged
- Skin Neoplasms
- Adult
- Aged
- Cyclin-Dependent Kinase Inhibitor p16
- Genetic Testing
- Tumor Suppressor Proteins
- Pancreatic Neoplasms
- Ubiquitin Thiolesterase