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Abstract: PIK3CA is one of the two most frequently mutated genes in breast cancers, occurring in 30-40% of cases. Four frequent 'hotspot' PIK3CA mutations (E542K, E545K, H1047R and H1047L) account for 80-90% of all PIK3CA mutations in human malignancies and represent predictive biomarkers. Here we describe a PIK3CA mutation specific nuclease-based enrichment assay, which combined with a low-cost real-time qPCR detection method, enhances assay detection sensitivity from 5% for E542K and 10% for E545K to 0.6%, and from 5% for H1047R to 0.3%. Moreover, we present a novel flexible prediction method to calculate initial mutant allele frequency in tissue biopsy and blood samples with low mutant fraction. These advancements demonstrated a quick, accurate and simple detection and quantitation of PIK3CA mutations in two breast cancer cohorts (first cohort n = 22, second cohort n = 25). Hence this simple, versatile and informative workflow could be applicable for routine diagnostic testing where quantitative results are essential, e.g. disease monitoring subject to validation in a substantial future study.
Fuente: Sci Rep . 2020 Oct 13;10(1):17082
Publisher: Nature Publishing Group
Year of publication: 2020
No. of pages: 12
Publication type: Article
DOI: 10.1038/s41598-020-74086-w
ISSN: 2045-2322
Publication Url: https://doi.org/10.1038/s41598-020-74086-w
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KERAITE, IEVA
VIRGINIA ALVAREZ GARCIA
GARCIA-MURILLAS, ISAAC
BEANEY, MATTHEW
TURNER, NICHOLAS C
BARTOS, CLARE
OIKONOMIDOU, OLGA
KERSAUDY-KERHOAS, MAÏWENN
LESLIE, NICHOLAS R
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