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Croatian Medical Journal, Vol. 47 No. 6, 2006.

Original scientific paper

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

Marko Hočevar
Magdalena Avbelj
Barbara Perić
Janez Žgajnar
Nikola Bešić
Tadej Battelino

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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.

Keywords

melanoma; germline mutation; hereditary cancer; CDKN2A; Slovenia

Hrčak ID:

6326

URI

https://hrcak.srce.hr/6326

Publication date:

15.12.2006.

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