Factors predicting the occurrence of germline mutations in candidate genes among patients with cutaneous malignant melanoma from South Italy

Milena Casula, Maria Colombino, Maria P. Satta, Antonio Cossu, Amelia Lissia, Mario Budroni, Ester Simeone, Rosa Calemma, Cinzia Loddo, Corrado Caracò, Nicola Mozzillo, Antonio Daponte, Giuseppe Comella, Sergio Canzanella, Michele Guida, Giuseppe Castello, Paolo A. Ascierto, Giuseppe Palmieri

Research output: Contribution to journalArticle


Clinical predictors for germline mutations of candidate genes in large clinic based population of patients with cutaneous malignant melanoma (CMM) are widely awaited. Using denaturing high-performance liquid chromatography (DHPLC) analysis and DNA sequencing, 557 consecutively-collected CMM patients originating from South Italy were screened for CDKN2A germline mutations; subsets of them were screened for mutations in the BRAF and BRCA2 genes. Seven CDKN2A mutations were detected in 14 (2.5%) CMM patients. Relative risk of carrying a CDKN2A mutation for CMM patients was demonstrated to significantly increase with the presence of familial recurrence of melanoma (risk ratio (RR) = 6.31; p = 0.0009), multiple primary melanomas (RR = 3.43; p = 0.0014), and early onset age (RR = 4.56; p = 0.0026). All CDKN2A mutations were observed in non-Sardinian patients (14/441; 3.2%), whereas BRAF and BRCA2 genes were found mutated in Sardinian patients (3/116; 2.6%). Such indicators of the presence of CDKN2A mutations will be useful in counselling patients about undergoing genetic testing. Our findings strongly suggest that mutation rates of candidate cancer genes may deeply vary among CMM patients from different geographical areas.

Original languageEnglish
Pages (from-to)137-143
Number of pages7
JournalEuropean Journal of Cancer
Issue number1
Publication statusPublished - Jan 2007



  • Cancer genes
  • Genetic testing
  • Mutation analysis
  • Polymerase chain reaction

ASJC Scopus subject areas

  • Cancer Research
  • Hematology
  • Oncology

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