20.500.12556/DiRROS-8991 Več obrazov sindroma Lynch : odkrivanje zarodnih mutacij v genu MSH6 Multiple faces of the Lynch syndrome: detection of germ-line mutations in the MSH6 gene Na Oddelku za molekularno diagnostiko Onkološkega inštituta Ljubljana smo uvedli testiranje zarodnih mutacij vgenu MSH6. Mutacije v tem genu so povezane z Lynchevim sindromom in predstavljajo povečano verjetnost za nastanekraka na debelem črevesu in danki, raka maternične sluznice,raka jajčnikov in drugih vrst raka. Za testiranje prisotnosti mutacij v genu MSH6 uporabljamo metodo neposrednega sekvenciranja in metodo MLPA (ang. multiplex ligation-dependentprobe 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. Mutacije v genu MSH6 testiramo pri osebah, za katere se v postopku genetskega svetovanja pokaže večja verjetnost Lynchevega sindroma. Pravočasno odkrivanje mutacij v genih, povezanih z nastankom raka, je za nosilce mutacij pomembno, saj je dokazana mutacija razlog za prilagojeno klinično spremljanje in preventivne ukrepe pri nosilcih mutacije. The Department of Molecular Diagnostics at the Institute of Oncology Ljubljana has introduced testing of germ-line mutations in the MSH6 gene. Mutations in this gene are associated with the Lynch syndrome and represent an increased likelihood for the development of colorectal, endometrial, ovarian, and other cancers. The presence of mutations in the MSH6 gene 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. Mutations in the MSH6 gene are tested in persons who, in the process of genetic counselling, show an increased likelihood of developing Lynch syndrome. A timely detection of mutations in the genes associated with the development of cancer is important for the carriers of mutations, as a proven mutation is a reason for individualised clinical monitoring and/or preventive measures in mutation carriers. dedni rak genetika gen MSH6 zarodne mutacije true false true Slovenski jezik Angleški jezik by Authors Neznano 2018-08-31 13:34:33 2018-08-31 13:34:33 2022-08-24 17:48:47 0000-00-00 00:00:00 2013 0 0 str. 97-99, 154 št. 2 Letn. 17 dec. 2013 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 602.6/.7 1408-1741 URN:NBN:SI:doc-RFSSO2K1 1680507 65324032 RAZ_Prosenc_Ursula_i2013.pdf RAZ_Prosenc_Ursula_i2013.pdf 1 34C09E27CA791E7DC44B962430875421 63c489af244154738c19f70288498453c03ca1162310fcd280a8d613223b60c5 6b7192ba-17b5-11ed-b6b8-001a4af901a5 20.500.12556/dirros/186fcc11-456c-49d2-987c-30cbb3e294c5 https://dirros.openscience.si/Dokument.php?lang=slv&id=10772 Onkološki inštitut Ljubljana Onkologija : strokovni časopis za zdravnike 0 0 0