PIK3CA mutation enrichment and quantitation from blood and tissue

Autor:	Maïwenn Kersaudy-Kerhoas, Olga Oikonomidou, Nick R. Leslie, Ieva Keraite, Nicholas C. Turner, Isaac Garcia-Murillas, Clare Bartos, Virginia Alvarez-Garcia, Matthew Beaney
Přispěvatelé:	Universidad de Cantabria
Jazyk:	angličtina
Rok vydání:	2020
Předmět:	Oncology medicine.medical_specialty Class I Phosphatidylinositol 3-Kinases Molecular biology Mutant DNA Mutational Analysis lcsh:Medicine Breast Neoplasms Diseases Real-Time Polymerase Chain Reaction Article Cohort Studies Breast cancer Medical research Gene Frequency Internal medicine Cell Line Tumor Biomarkers Tumor Genetics Medicine Humans Signs and symptoms lcsh:Science Allele frequency Gene neoplasms Cancer Nuclease Multidisciplinary biology Molecular medicine business.industry Pik3ca mutation Biological techniques lcsh:R Health care DNA Neoplasm medicine.disease Cohort Mutation biology.protein MCF-7 Cells Female lcsh:Q business Cohort study
Zdroj:	Scientific Reports, Vol 10, Iss 1, Pp 1-12 (2020) Scientific Reports Sci Rep . 2020 Oct 13;10(1):17082 UCrea Repositorio Abierto de la Universidad de Cantabria Universidad de Cantabria (UC) Keraite, I, Alvarez Garcia, V, Garcia-Murillas, I, Beaney, M, C Turner, N, Bartos, C, Oikonomidou, O, Kersaudy-Kerhoas, M & R. Leslie, N 2020, ' PIK3CA mutation enrichment and quantitation from blood and tissue ', Scientific Reports . https://doi.org/10.1038/s41598-020-74086-w
ISSN:	2045-2322
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3e1d6897511ac1dbe2ff3e57dfe9ef1 http://link.springer.com/article/10.1038/s41598-020-74086-w Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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