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

被引：0

作者：

Hocevar, Marko

Avbelj, Magdalena

Peric, Barbara

Zgajnar, Janez

Besic, Nikola

Battelino, Tadej

机构：

[1] Inst Oncol, SI-1000 Ljubljana, Slovenia

[2] Univ Childrens Hosp, Univ Med Ctr, Ljubljana, Slovenia

来源：

CROATIAN MEDICAL JOURNAL | 2006年 / 47卷 / 06期

关键词：

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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 I I 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.

引用

页码：851 / 854

页数：4

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