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Asymmetric real-time PCR detection of BRCA1 5382insC mutation by melting curve analysis in the LightCycler

Citation:

Kroupis C, Christopoulos K, Devetzoglou M, Tsiagas I, Lianidou ES. Asymmetric real-time PCR detection of BRCA1 5382insC mutation by melting curve analysis in the LightCycler. Clin.Chim.Acta [Internet]. 2008;390(1-2):141 - 144.

Abstract:

BACKGROUND: 5382insC BRCA1 frameshift mutation is a common founder mutation for many populations worldwide and a high-risk allele for the development of hereditary breast and/or ovarian cancer. Our goal was to develop a novel, reliable and rapid method for its detection. METHODS: We developed an asymmetric real-time PCR method with hybridization probes in the LightCycler. Genotyping was performed by melting curve analysis. RESULTS AND CONCLUSIONS: The developed method was in concordance with reference methods when tested in 85 peripheral blood and 107 tumor DNA samples from Greek breast and/or ovarian cancer patients. The described method proved to be simple, cost-effective, easy to perform and rapid enough for routine use as a screening method in high-risk families and especially in the Greek, Slavic and Jewish populations where 5382insC mutation is the most common BRCA1 mutation

Notes:

DA - 20080303 IS - 0009-8981 (Print) IS - 0009-8981 (Linking) LA - eng PT - Journal Article RN - 0 (BRCA1 Protein) RN - 0 (DNA Primers) SB - IM

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