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 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.The CDKN2A gene is the most common cause of inherited cutaneous malignant melanoma (CMM) (1). The presence and frequency of CDKN2A gene mutations in familial CMM vary considerably in different populations. Yakobson (2) did not find even a single case of germline CDKN2A mutation among 31 Israeli CMM families. However, Mantelli (3) reported a high prevalence of 34% of the germline CDKN2A mutations in his study of 62 Italian CMM families. Overall, the CDKN2A mutations were detected in approximately 20% of the tested CMM families (1).The aim of our study was to prospectively determine the prevalence of germline CDKN2A mutations in the Slovenian CMM families.