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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

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

Hocevar Marko M Avbelj Magdalena M Perić Barbara B Zgajnar Janez J Besić Nikola N Battelino Tadej T

Croatian medical journal 20061201 6

<h4>Aim</h4>To prospectively determine the prevalence of germline CDKN2A mutations in the Slovenian cutaneous malignant melanoma (CMM) families.<h4>Methods</h4>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.<h4>Results</h4>Five distinct mutations were detected in 5 out of 11 screened families (10/19 individuals) and a previously recognized polymorphism was ...[more]

PMID: 17167857

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Project description:BackgroundTwo high-risk genes have been implicated in the development of CM (cutaneous melanoma). Germline mutations of the CDKN2A gene are found in < 25% of melanoma-prone families and there are only seven families with mutation of the CDK4 gene reported to date. Beside those high penetrance genes, certain allelic variants of the MC1R gene modify the risk of developing the disease.The aims of our study wereto determine the prevalence of germline CDKN2A mutations and variants in members of families with familial CM and in patients with multiple primary CM; to search for possible CDK4 mutations, and to determine the frequency of variations in the MC1R gene.MethodsFrom January 2001 until January 2007, 64 individuals were included in the study. The group included 28 patients and 7 healthy relatives belonging to 25 families, 26 patients with multiple primary tumors and 3 children with CM. Additionally 54 healthy individuals were included as a control group. Mutations and variants of the melanoma susceptibility genes were identified by direct sequencing.ResultsSeven families with CDKN2A mutations were discovered (7/25 or 28.0%). The L94Q mutation found in one family had not been previously reported in other populations. The D84N variant, with possible biological impact, was discovered in the case of patient without family history but with multiple primary CM. Only one mutation carrier was found in the control group. Further analysis revealed that c.540C>T heterozygous carriers were more common in the group of CM patients and their healthy relatives (11/64 vs. 2/54). One p14ARF variant was discovered in the control group and no mutations of the CDK4 gene were found. Most frequently found variants of the MC1R gene were T314T, V60L, V92M, R151C, R160W and R163Q with frequencies slightly higher in the group of patients and their relatives than in the group of controls, but the difference was statistically insignificant.ConclusionThe present study has shown high prevalence of p16INK4A mutations in Slovenian population of familial melanoma patients (37%) and an absence of p14ARF or CDK4 mutations.

Dataset Information

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

Publications

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

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