PIK3CA mutation enrichment and quantitation from blood and tissue

Sci Rep. 2020 Oct 13;10(1):17082. doi: 10.1038/s41598-020-74086-w.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Validation Study

MeSH terms

  • Biomarkers, Tumor / blood
  • Biomarkers, Tumor / genetics*
  • Biomarkers, Tumor / metabolism
  • Breast Neoplasms / diagnosis
  • Breast Neoplasms / enzymology*
  • Breast Neoplasms / genetics*
  • Cell Line, Tumor
  • Class I Phosphatidylinositol 3-Kinases / blood
  • Class I Phosphatidylinositol 3-Kinases / genetics*
  • Class I Phosphatidylinositol 3-Kinases / metabolism
  • Cohort Studies
  • DNA Mutational Analysis / methods
  • DNA, Neoplasm / genetics
  • DNA, Neoplasm / isolation & purification
  • Female
  • Gene Frequency
  • Humans
  • MCF-7 Cells
  • Mutation*
  • Real-Time Polymerase Chain Reaction / methods

Substances

  • Biomarkers, Tumor
  • DNA, Neoplasm
  • Class I Phosphatidylinositol 3-Kinases
  • PIK3CA protein, human