{"?xml":{"@version":"1.0"},"edm:RDF":{"@xmlns:dc":"http://purl.org/dc/elements/1.1/","@xmlns:edm":"http://www.europeana.eu/schemas/edm/","@xmlns:wgs84_pos":"http://www.w3.org/2003/01/geo/wgs84_pos","@xmlns:foaf":"http://xmlns.com/foaf/0.1/","@xmlns:rdaGr2":"http://rdvocab.info/ElementsGr2","@xmlns:oai":"http://www.openarchives.org/OAI/2.0/","@xmlns:owl":"http://www.w3.org/2002/07/owl#","@xmlns:rdf":"http://www.w3.org/1999/02/22-rdf-syntax-ns#","@xmlns:ore":"http://www.openarchives.org/ore/terms/","@xmlns:skos":"http://www.w3.org/2004/02/skos/core#","@xmlns:dcterms":"http://purl.org/dc/terms/","edm:WebResource":[{"@rdf:about":"http://www.dlib.si/stream/URN:NBN:SI:doc-JTBANCEM/3b608708-d6d8-4b28-8452-8bd46bdec3e8/PDF","dcterms:extent":"339 KB"},{"@rdf:about":"http://www.dlib.si/stream/URN:NBN:SI:doc-JTBANCEM/de02d4d0-c400-4463-89f3-5ea1c70e1afa/TEXT","dcterms:extent":"13 KB"}],"edm:TimeSpan":{"@rdf:about":"1997-2025","edm:begin":{"@xml:lang":"en","#text":"1997"},"edm:end":{"@xml:lang":"en","#text":"2025"}},"edm:ProvidedCHO":{"@rdf:about":"URN:NBN:SI:doc-JTBANCEM","dcterms:isPartOf":[{"@rdf:resource":"https://www.dlib.si/details/URN:NBN:SI:spr-S2P9OQWZ"},{"@xml:lang":"sl","#text":"Onkologija (Ljubljana)"}],"dcterms:issued":"2013","dc:creator":["Oblak, Irena","Potrč, Stojan"],"dc:format":[{"@xml:lang":"sl","#text":"letnik:17"},{"@xml:lang":"sl","#text":"številka:2"},{"@xml:lang":"sl","#text":"str. 100-102"}],"dc:identifier":["ISSN:1408-1741","COBISSID_HOST:1680763","URN:URN:NBN:SI:doc-JTBANCEM"],"dc:language":"sl","dc:publisher":{"@xml:lang":"sl","#text":"Onkološki inštitut Ljubljana"},"dc:subject":[{"@xml:lang":"sl","#text":"kongresi"},{"@xml:lang":"sl","#text":"rak prebavil"}],"dcterms:temporal":{"@rdf:resource":"1997-2025"},"dc:title":{"@xml:lang":"sl","#text":"15. svetovni kongres o raku prebavil|"},"dc:description":{"@xml:lang":"sl","#text":"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"},"edm:type":"TEXT","dc:type":[{"@xml:lang":"sl","#text":"znanstveno časopisje"},{"@xml:lang":"en","#text":"journals"},{"@rdf:resource":"http://www.wikidata.org/entity/Q361785"}]},"ore:Aggregation":{"@rdf:about":"http://www.dlib.si/?URN=URN:NBN:SI:doc-JTBANCEM","edm:aggregatedCHO":{"@rdf:resource":"URN:NBN:SI:doc-JTBANCEM"},"edm:isShownBy":{"@rdf:resource":"http://www.dlib.si/stream/URN:NBN:SI:doc-JTBANCEM/3b608708-d6d8-4b28-8452-8bd46bdec3e8/PDF"},"edm:rights":{"@rdf:resource":"http://creativecommons.org/licenses/by/4.0/"},"edm:provider":"Slovenian National E-content Aggregator","edm:intermediateProvider":{"@xml:lang":"en","#text":"National and University Library of Slovenia"},"edm:dataProvider":{"@xml:lang":"sl","#text":"Onkološki inštitut Ljubljana"},"edm:object":{"@rdf:resource":"http://www.dlib.si/streamdb/URN:NBN:SI:doc-JTBANCEM/maxi/edm"},"edm:isShownAt":{"@rdf:resource":"http://www.dlib.si/details/URN:NBN:SI:doc-JTBANCEM"}}}}