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Title:Več obrazov sindroma Lynch : odkrivanje zarodnih mutacij v genu MSH6
Authors:ID Prosenc, Uršula (Author)
ID Novaković, Srdjan (Author)
Files:.pdf PDF - Presentation file, download (333,19 KB)
MD5: 34C09E27CA791E7DC44B962430875421
PID: 20.500.12556/dirros/186fcc11-456c-49d2-987c-30cbb3e294c5
 
Language:Slovenian
Typology:1.03 - Other scientific articles
Organization: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
Publication status:Published
Publication version:Version of Record
Year of publishing:2013
Number of pages:str. 97-99, 154
Numbering:Letn. 17, št. 2
PID:20.500.12556/DiRROS-8991 New window
UDC:602.6/.7
ISSN on article:1408-1741
URN:URN:NBN:SI:doc-RFSSO2K1
COBISS.SI-ID:1680507 New window
Copyright:by Authors
Publication date in DiRROS:31.08.2018
Views:4163
Downloads:1118
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Record is a part of a journal

Title:Onkologija
Shortened title:Onkologija
Publisher:Onkološki inštitut
ISSN:1408-1741
COBISS.SI-ID:65324032 New window

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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