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Title: Določanje mutacij pri bolnikih z dedno obliko malignega melanoma kože Authors: ID Škerl, Petra (Author) ID Perić, Barbara (Author) ID Hočevar, Marko (Author) ID Novaković, Srdjan (Author) Files: PDF - Presentation file, download (308,29 KB) MD5: 60762FBEA848BEA65144BCA69AC32727 PID: 20.500.12556/dirros/7e979d4d-f0d9-423e-830e-75fdda204acf   Language: Slovenian Typology: 1.01 - Original Scientific Article Organization: OI - Institute of Oncology Abstract: Gensko testiranje za dedno obliko malignega melanoma kože na OI Ljubljana opravljamo od leta 2005. Izbor bolnikov za testiranje poteka v okviru genetskega svetovanja. Testiramo bolnike in njihove zdrave sorodnike, če sta v družini najmanj dva obolela člana, in bolnike s primarnimi multiplimi melanomi brez obremenjujoče družinske anamneze. Na oddelku za molekularno diagnostiko z metodo sekvenčne analize iščemo in določamo neznane točkovne mutacije ter manjše delecije in insercije v eksonih genov, povezanih z nastankom malignega melanoma kože: CDKN2A, CDK4 in MC1R. Do sedaj smo testirali 70 oseb: 40 bolnikov in njihovih zdravih sorodnikov iz 28 različnih družin, obremenjenih z družinsko anamnezo, ter 30 bolnikov s primarnimi multiplimi melanomi. Sekvenčna analiza genov, povezanih z dedno obliko malignega melanoma kože, je pokazala, da so mutacije CDKN2A p16INK4a pri bolnikih z družinsko anamnezo zelo pogoste (37,5 %). Mutacij CDKN2A p14ARF in CDK4 pri slovenskih bolnikih nismo našli. Publication status: Published Publication version: Version of Record Year of publishing: 2008 Number of pages: str. 125-128 Numbering: Letn. 12, št. 2 PID: 20.500.12556/DiRROS-8817  UDC: 616-006 ISSN on article: 1408-1741 URN: URN:NBN:SI:doc-TRDK70EI COBISS.SI-ID: 25343449  Copyright: by Authors Note: Soavtorji: B. Perić, M. Hočevar in S. Novaković; BSDOCID143385; Publication date in DiRROS: 31.08.2018 Views: 3212 Downloads: 725 Metadata:     Cite this work Plain text BibTeX EndNote XML EndNote/Refer RIS ABNT ACM Ref AMA APA Chicago 17th Author-Date Harvard IEEE ISO 690 MLA Vancouver : Copy citation

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Record is a part of a journal

Title:	Onkologija. strokovni časopis za zdravnike
Shortened title:	Onkologija
Publisher:	Onkološki inštitut
ISSN:	1408-1741
COBISS.SI-ID:	65324032

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License:	CC BY 4.0, Creative Commons Attribution 4.0 International
Link:	http://creativecommons.org/licenses/by/4.0/
Description:	This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.
Licensing start date:	31.08.2018

Secondary language

Language:	English
Title:	Screening for melanoma susceptibility gene mutations in patients with familial cutaneous melanoma
Abstract:	At the Institute of Oncology Ljubljana, Department of Molecular Diagnostics, genetic testing for familial cutaneous melanoma (CM) was started in 2005. The patients are selected according to the guidelines of genetic counseling for CM. The screening for melanoma susceptibility genes is performed in the patients and their healthy relatives from the families with at least two affected family members and in the patients with multiple primary CM without family history. The mutation screening for melanoma susceptibility genes – CDKN2A, CDK4 and MC1R is performed by direct sequencing. Altogether 70 patients and their healthy relatives (40 patients or their relatives selected from 28 families after considering their on family history and 30 patients with multiple primary CM) have been tested so far. Our results showed high prevalence of CDKN2A p16INK4a mutations in the patients with familial CM. In CDKN2A p14ARF and CDK4, no mutations were detected in Slovenian patients.

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