22 KB257 KB16 KB199220252005Novaković, SrdjanStegel, Vidaštevilka:2letnik:396 stranistr. 147-152ISSN:1318-2099COBISSID:19767769URN:URN:NBN:SI:doc-NUJL23GKenAssociation of Radiology and OncologyRadiology and oncology (Ljubljana)Breast NeoplasmsdedovanjeDojka, novotvorbeGenes, Brca1GeneticsgenetikageniGeni BRCA1MutacijamutacijeMutationPolimerazna, verižna reakcijaPolymerase Chain Reactionrak (medicina)Rapid detection of most frequent Slovenian germ-line mutations in BRCA1 gene using real-time PCR and melting curve analysis|Background. Detection of inherited mutations in cancer susceptibility genes isof great importance in some types of cancers including the colorectal cancer(mutations of APC gene in familial adenomatous polyposis -FAP, mutationsin mismatch repair genes in hereditary nonpolyposis colorectal cancer- HNPCC), malignant melanoma (mutations in CDKN2A and CDK4 genes) and breast cancer (mutations in BRCA1 and BRCA2 genes). Methods. This article presents the technical data for the detection of five mutations in BRCA1 gene in breast cancer patients and their relatives. The mutations - 1806C>T, 300T>G, 300T>A, 310G>A, 5382insC -were determined by the real-time PCR and themelting curve analysis. Results and conclusion. In comparison to direct sequencing, this method proved to be sensitive and rapid enough for the routine daily determination of mutations in DNA isolated from the peripheral bloodOdkrivanje dednih mutacij v genih, ki so povezani z nastankom raka, napove verjetnost nastanka raka pri nosilcih mutacij in pri njihovih potomcih. Najpogostejše oblike raka, ki so povezane s podedovanimi mutacijami, so črevesni rak (mutacije v APC genu pri bolnikih s familiarno adenomatozno polipozo - FAP, mutacije genov za popravljanje neujemanja pri bolnikih z dednim nepolipoznim črevesnim rakom - HNPCC), maligni melanom (mutacije v CDKN2A in CDK4 genih) in rak dojke (mutacije v BRCA1 in BRCA2 genih). V člankupodajamo osnovne metodološke podatke za odkrivanje petih različnih mutacij v BRCA1 genu pri bolnikih s karcinomom dojke in njihovih sorodnikih. Mutacije 1806C>T, 300T>G, 300T>A, 310G>A, 5382insC smo določali s pomočjo polimerazne verižne reakcije v realnem času in analizo talitvene krivulje. Primerjava z direktnim sekveniranjem je pokazala, da je uporabljena metoda dovolj občutljiva in hitra za dnevno rutinsko določanje mutacij v DNA izolirani iz periferne krviTEXTznanstveno časopisjejournalsSlovenian National E-content AggregatorNational and University Library of SloveniaDruštvo radiologije in onkologije