High- and intermediate-risk susceptibility variants in melanoma families from the Mediterranean area: a multicenter cohort from the MelaNostrum Consortium.

Cristina PellegriniL CardelliP GhiorzoL PastorinoMiriam PotronyZ García-CasadoL ElefantiIrene StefanakiM MastrangeloS NecozioneP AguileraA Rodríguez-HernándezLucia Di NardoT RoccoL Del RegnoC BadenasCristina CarreraJ MalvehyC RequenaJ BañulsA J StratigosKetty PerisC MeninD CalistaEduardo Nagore Susana Puig SardàM T LandiMaria-Concetta Fargnoli

Published in: Journal of the European Academy of Dermatology and Venereology : JEADV (2023)

Variants in known high-penetrance genes explain nearly 20% of melanoma familial aggregation in Mediterranean areas. CDKN2A melanoma predictors were identified with potential clinical relevance for cancer risk-assessment.

Keyphrases

risk assessment
skin cancer
copy number
human health
basal cell carcinoma
early onset
heavy metals
gene expression
young adults
double blind