Login / Signup

Prevalence of CDKN2A, CDK4, POT1, BAP1, MITF, ATM, and TERT Pathogenic Variants in a Single-Center Retrospective Series of Patients With Melanoma and Personal or Family History Suggestive of Genetic Predisposition.

Giada FerraraSalvatore PaiellaGiulio SettanniMelissa FrizzieroPaolo RosinaValeria Viassolo
Published in: Dermatology practical & conceptual (2024)
The prevalence of PV in predisposing genes in FM was lower than previously reported in Italian registries. Possible reasons include deleterious variants in untested intermediate/low-penetrance genes or yet-to-be-discovered high-penetrance genes and environmental risk factors. A family history of PC, a high number of nevi and melanomas predict a monogenic predisposition to melanoma.
Keyphrases
  • risk factors
  • genome wide
  • copy number
  • genome wide identification
  • bioinformatics analysis
  • dna damage
  • genome wide analysis
  • skin cancer
  • risk assessment
  • oxidative stress
  • dna damage response
  • basal cell carcinoma