Familial Melanoma

The risk of developing melanoma is primarily determined by genetic, phenotypic, and environmental factors. Identifying a familial pattern of melanoma can help to stratify risk for patients and guide screening measures. Carcinogenesis in part involves an accumulation of genomic changes and inheriting a germline mutation may increase an individual’s susceptibility for melanoma by requiring fewer somatic mutations to reach a critical level for malignancy. There are a wide range of genes that can be involved, with varying levels of penetrance, but the focus has traditionally been on CDKN2A. This chapter provides an overview of the patterns in familial melanoma, the inherited predisposing genetic mutations, and the value of genetic testing.