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

ABSTRACT: 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 11 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.

SUBMITTER: Hocevar M 

PROVIDER: S-EPMC2080476 | biostudies-literature | 2006 Dec

REPOSITORIES: biostudies-literature