High prevalence of germline CDKN2A mutations in Slovenian cutaneous malignant melanoma families

Aim: To prospectively determine the prevalence of germline CDKN2A mutations in the Slovenian cutaneous malignant melanoma (CMM) families. Methods From January 2001 till the end of 2003 we prospectively screened 19 individuals from I I CMM families, as well as 3 children with CMM aged from 6 to 13 years, with a negative family history. Results Five distinct mutations were detected in 5 out of 11 screened families (10/19 individuals) and a previously recognized polymorphism was detected in a single family. Detected mutations were functionally deleterious (T281A, G68A, G301T, G71C and IVS - 1g > a). No mutations could be detected in 3 children. Conclusions The prevalence of CDKN2A mutations among Slovenian CMM families was high, indicating the need for genetic counseling.