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Title:Več obrazov sindroma Lynch : odkrivanje zarodnih mutacij v genu MSH6
Authors:Prosenc, Uršula (Author)
Novaković, Srdjan (Author)
Language:Slovenian
Tipology:1.03 - Short Scientific Article
Organisation:Logo OI - Institute of Oncology
Abstract: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.
Keywords:dedni rak, genetika, gen MSH6, zarodne mutacije
Year of publishing:2013
COBISS_ID:1680507 Link is opened in a new window
UDC:602.6/.7
ISSN on article:1408-1741
OceCobissID:65324032 Link is opened in a new window
URN:URN:NBN:SI:doc-RFSSO2K1
Views:2208
Downloads:588
Files:.pdf PDF - Presentation file, download (333,19 KB)
 
Journal:Onkologija
Onkološki inštitut
 
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Licences

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:Multiple faces of the Lynch syndrome: detection of germ-line mutations in the MSH6 gene
Abstract: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.

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