High Prevalence of Germline CDKN2A Mutations in Slovenian Cutaneous Malignant Melanoma Families

Overview

Journal Croat Med J

Specialty General Medicine

Date 2006 Dec 15

PMID 17167857

Citations 3

Authors

Marko Hocevar

Magdalena Avbelj

Barbara Peric

Janez Zgajnar

Nikola Besic

Tadej Battelino

Affiliations

Soon will be listed here.

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.

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