Familial risk of melanoma and links with other cancers

Abstract

SUMMARY  The genetic risk factors for melanoma are complex and involve both familial and environmental components. Of the thousands of melanomas diagnosed each year, only a fraction are due to familial causes. These melanomas typically present in younger individuals, and may be associated with genetic factors that put these individuals at risk for other tumors. CDKN2A and CDK4 are the most well-characterized mutations, as they have been identified in up to 40% of familial melanomas. Individuals with CDKN2A are also at risk for pancreatic cancer. The BRCA2 mutation has also been implicated in familial melanomas, breast and ovarian cancer. The BAP1, TERC and POT1 mutations are associated with melanomas and several other familial tumors.