TY - JOUR
TI - Asymmetric real-time PCR detection of BRCA1 5382insC mutation by melting curve analysis in the LightCycler
AU - Kroupis, C.
AU - Christopoulos, K.
AU - Devetzoglou, M.
AU - Tsiagas, I.
AU - Lianidou, E.S.
JO - Clinica Chimica Acta
PY - 2008
VL - 390
TODO - 1-2
SP - 141-144
PB - 
SN - 0009-8981
TODO - 10.1016/j.cca.2007.12.024
TODO - allele;  article;  breast cancer;  cancer patient;  cost effectiveness analysis;  device;  DNA determination;  frameshift mutation;  gene mutation;  genotype;  human;  human tissue;  oncogene;  ovary cancer;  priority journal;  real time polymerase chain reaction, Base Sequence;  BRCA1 Protein;  Breast Neoplasms;  DNA Primers;  Female;  Humans;  Mutation;  Ovarian Neoplasms;  Polymerase Chain Reaction
TODO - 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. © 2008 Elsevier B.V. All rights reserved.
ER -