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  • Rapid detection of most frequent Slovenian germ-line mutations in BRCA1 gene using real-time PCR and melting curve analysis
    Novaković, Srdjan ; Stegel, Vida
    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 blood.
    Vir: Radiology and oncology. - ISSN 1318-2099 (Vol. 39, no. 2, jun. 2005, str. 147-152)
    Vrsta gradiva - članek, sestavni del
    Leto - 2005
    Jezik - angleški
    COBISS.SI-ID - 19767769

    Povezava(-e):

    Digitalna knjižnica Slovenije - dLib.si
    DiRROS - Digitalni repozitorij raziskovalnih organizacij Slovenije

vir: Radiology and oncology. - ISSN 1318-2099 (Vol. 39, no. 2, jun. 2005, str. 147-152)

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