A single center retrospective review of patients from central italy tested for melanoma predisposition genes

Paola De Simone, Irene Bottillo, Michele Valiante, Alessandra Iorio, Carmelilia De Bernardo, Silvia Majore, Daniela D’angelantonio, Tiziana Valentini, Isabella Sperduti, Paolo Piemonte, Laura Eibenschutz, Angela Ferrari, Anna Carbone, Pierluigi Buccini, Alessandro Paiardini, Vitaliano Silipo, Pasquale Frascione, Paola Grammatico

Research output: Contribution to journalArticlepeer-review


Background. Cutaneous malignant melanoma (CMM) is one of the most common skin cancers worldwide. CMM pathogenesis involves genetic and environmental factors. Recent studies have led to the identification of new genes involved in CMM susceptibility: beyond CDKN2A and CDK4, BAP1, POT1, and MITF were recently identified as potential high-risk melanoma susceptibility genes. Objective: This study is aimed to evaluate the genetic predisposition to CMM in patients from central Italy. Methods: From 1998 to 2017, genetic testing was performed in 888 cases with multiple primary melanoma and/or familial melanoma. Genetic analyses included the sequencing CDKN2A, CDK4, BAP1, POT1, and MITF in 202 cases, and of only CDKN2A and CDK4 codon 24 in 686 patients. By the evaluation of the personal and familial history, patients were divided in two clinical categories: “low significance” and “high significance” cases. Results: 128 patients (72% belonging to the “high significance” category, 28% belonging to the “low significance” category) were found to carry a DNA change defined as pathogenic, likely pathogenic, variant of unknown significance (VUS)-favoring pathogenic or VUS. Conclusions: It is important to verify the genetic predisposition in CMM patients for an early diagnosis of further melanomas and/or other tumors associated with the characterized genotype.
Original languageEnglish
Pages (from-to)1-17
Number of pages17
JournalInt. J. Mol. Sci.
Issue number24
Publication statusPublished - Dec 2 2020


  • Familial melanoma
  • Melanoma susceptibility genes
  • Multiple primary melanoma


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