20.500.12556/DiRROS-8799 Odkrivanje dednega sindroma von Hippel-Lindau : določanje mutacij v genu VHL Detection of the von Hippel-Lindau hereditary cancer syndrome: determination of mutations in the VHL gene Na Oddelku za molekularno diagnostiko Onkološkega inštituta Ljubljana smo uvedli testiranje mutacij v tumorskem supresorskem genu von Hippel-Lindau (VHL). Mutacije v tem genu povečajo verjetnost za nastanek rakastih bolezni, povezanih s sindromom »von Hippel-Lindau« (VHL), kakor tudi z nastankom sporadičnega raka ledvic. Testiranje dednih mutacij pri bolnikih s sumom na sindrom VHL omogoča zgodnjo pravilno diagnozo bolezni. Prisotnost mutacije v genu VHL je dovolj za potrditev diagnoze sindroma VHL tudi ob odsotnosti značilnih tumorjev. Za testiranje prisotnosti mutacij v genu VHL uporabljamo metodo neposrednega sekvenciranja in metodo MLPA (ang. multiplex ligation-dependent probe amplification). S sekvenciranjem odkrivamo točkovne mutacije in manjše delecije ter insercije. Z metodo MLPA pa prisotnost večjih delecij in insercij v genu oziroma delecijo celotnega gena. Pravočasno odkrivanje mutacij v genih, povezanih z nastankom raka, je za nosilce mutacij pomembno, saj je dokazana mutacija razlog za prilagojeno klinično spremljanje in/ali preventivne ukrepe pri nosilcih mutacije. Posledično so zaradi tega povečane možnosti za preprečevanje ali zgodnejše odkrivanje raka. The Department of Molecular Diagnostics at the Institute of Oncology Ljubljana has introduced testing of mutations in the von Hippel-Lindau (VHL) suppressor gene. Mutations in this gene increase the probability for the development of cancerous diseases associated with the »von Hippel-Lindau« (VHL) syndrome and also the development of sporadic kidney cancer. Testing of hereditary mutations in patients suspected of having the VHL syndrome enables early and correct diagnosis of the disease. Presence of a mutation in the VHL gene is sufficient to confirm the diagnosis of VHL syndrome also in the absence of typical tumours. It is tested using the direct sequencing method and the MLPA multiplex ligation-dependent probe amplification) method. While sequencing allows us to detect point mutations and small deletions and insertions, the MLPA method is used to detect the presence of large deletions and insertions in the gene or a deletion of the entire gene. Timely detection of mutations in genes associated with the development of cancer is important for the carriers of mutations, as a proven mutation is a reason for an adapted clinical monitoring and/or preventive measures in mutation carriers. This results in increased possibilities for the prevention and early detection of cancer. genetika mutacije genetski testi true false true Slovenski jezik Angleški jezik by Authors Neznano 2018-08-31 13:30:37 2018-08-31 13:30:37 2022-08-24 17:31:20 0000-00-00 00:00:00 2012 0 0 str. 87-89, 113 št. 2 Letn. 16 dec. 2012 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 616.13/.14-056 1408-1741 URN:NBN:SI:doc-29DLBGMZ 1423995 65324032 RAZ_Milatovic_Masa_i2012.pdf RAZ_Milatovic_Masa_i2012.pdf 1 92594979FAF097EC8378EAB474A0D27F 97876c14ecc3cd09478fe8dfafd292060b97d09e386fea5723a83c1656c14102 5eef888a-17b5-11ed-b6b8-001a4af901a5 20.500.12556/dirros/f2ebc768-e38a-4645-a63c-82cd1a89c95c https://dirros.openscience.si/Dokument.php?lang=slv&id=10580 Onkološki inštitut Ljubljana Onkologija : strokovni časopis za zdravnike 0 0 0