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Rapid detection of most frequent Slovenian germ-line mutations in BRCA1 gene using real-time PCR and melting curve analysis = [PCR in analiza talitvene krivulje kot metoda za odkrivanje najpogostejših dednih mutacij v BRCA1 genu pri slovenskih bolnikih]
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.
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