Malignant melanoma Clustering with some familial/hereditary tumors

Germline mutations of the CDKN2 and CDK4 genes that are involved in the cell cycle regulation, have been associated with malignant melanoma (MM). However, these mutations have been detected only in some cases of familial MM, particularly in Sweden and in Italy, which suggests that other genes are involved in the pathogenesis of hereditary MM. Few data are available about the clustering between MM and familial or hereditary tumours (e.g. breast cancer, ovarian cancer, colon cancer, pancreatic cancer). In this respect, the Breast Cancer Linkage Consortium reported that carriers of germline mutations in the BRCA2 predisposing gene have a significantly increased risk for MM (RR = 2.58; 95% CI = 1.28-5.17). The aim of the present study was to determine the family history of 342 consecutive cases of MM observed from 1994 to date. Specifically, we looked for: MM associated with other malignant neoplasias; familial clustering of MM; and a family history of cancer. Malignant melanoma was associated with other tumours in 20/342 patients (5.84%); a history of MM was associated to a positive family history of cancer in 31/342 cases (9.06%); and familial clustering of MM was detected in 22/342 (6.4%) of the consecutive series of patients analysed. The pedigree of patient who have a family history of MM or other cancers is being constructed.