학술논문

Targeted sequencing analysis of loci implicated in familial melanoma in a Greek cohort.
Document Type
Article
Source
Journal of the European Academy of Dermatology & Venereology. Jun2024, Vol. 38 Issue 6, pe525-e527. 3p.
Subject
*CUTANEOUS malignant melanoma
*SEQUENCE analysis
*LOCUS (Genetics)
*MELANOMA
*DYSPLASTIC nevus syndrome
Language
ISSN
0926-9959
Abstract
This article discusses a study conducted in Greece on familial melanoma, a type of skin cancer that runs in families. The researchers aimed to identify genetic variations associated with familial melanoma in a Greek cohort and to understand how these variations relate to family and patient characteristics. The study found that the CDKN2A gene was the most common gene implicated in familial melanoma in Greece, with a higher frequency of pathogenic variations compared to other Mediterranean populations. Carriers of these variations were more likely to develop multiple primary melanomas at a younger age and had an increased number of nevi and atypical nevi. The study highlights the importance of genetic counseling and testing for families with a history of melanoma. [Extracted from the article]