دورية أكاديمية
High Prevalence of Germline CDKN2A Mutations in Slovenian Cutaneous Malignant Melanoma Families
| العنوان: | High Prevalence of Germline CDKN2A Mutations in Slovenian Cutaneous Malignant Melanoma Families |
|---|---|
| المؤلفون: | Hočevar, Marko, Avbelj, Magdalena, Perić, Barbara, Žgajnar, Janez, Bešić, Nikola, Battelino, Tadej |
| المصدر: | Croatian Medical Journal (office@cmj.hr); Vol.47 No.6 |
| بيانات النشر: | Medicinska naklada; marketing@medicinskanaklada.hr |
| سنة النشر: | 2006 |
| المجموعة: | Hrčak - Portal of scientific journals of Croatia / Portal znanstvenih časopisa Republike Hrvatske |
| مصطلحات موضوعية: | melanoma, germline mutation, hereditary cancer, CDKN2A, Slovenia |
| الوصف: | 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. |
| نوع الوثيقة: | text |
| وصف الملف: | |
| اللغة: | English |
| العلاقة: | http://hrcak.srce.hr/6326Test; http://hrcak.srce.hr/file/9620Test |
| الإتاحة: | http://hrcak.srce.hr/6326Test http://hrcak.srce.hr/file/9620Test |
| رقم الانضمام: | edsbas.4CA74A7D |
| قاعدة البيانات: | BASE |
| الوصف غير متاح. |