ArticleThe Journal of molecular diagnostics : JMD2010
PIK3CA hotspot mutation scanning by a novel and highly sensitive high-resolution small amplicon melting analysis method.
Article in The Journal of molecular diagnostics : JMD, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed.
- ESR1 methylation and ESR1 mutations in circulating tumor cells (CTCs) and paired plasma-cfDNA of advanced breast cancer patients: A feasibility proof-of-concept study.Molecular oncology · 2026Article
- Recurrent bilateral giant breast fibroadenomas with a somatic PIK3CA p.G106V mutation: case report and review of current evidence.BMC women's health · 2025Review
- Development and validation of a multi-marker liquid bead array assay for the simultaneous detection ofHeliyon · 2024Article
- Highly Sensitive Detection of PIK3CA Mutations by Looping-Out Probes-Based Melting Curve Analysis.Biochemical genetics · 2024Article
- Direct comparison of an ultrasensitive real-time PCR assay with droplet digital PCR for the detection ofFrontiers in oncology · 2024Article
- Article
- Allele-Specific PCR for PIK3CA Mutation Detection Using Phosphoryl Guanidine Modified Primers.Diagnostics (Basel, Switzerland) · 2023Article
- Detection ofCancers · 2022Article
- DNA methylation analysis of tumor suppressor genes in liquid biopsy components of early stage NSCLC: a promising tool for early detection.Clinical epigenetics · 2022Article
- DNA Methylation Analysis in Plasma Cell-Free DNA and Paired CTCs of NSCLC Patients before and after Osimertinib Treatment.Cancers · 2021Article
- Article
- KMT2C promoter methylation in plasma-circulating tumor DNA is a prognostic biomarker in non-small cell lung cancer.Molecular oncology · 2021Article
- Article
- Genetic differences between benign phyllodes tumors and fibroadenomas revealed through targeted next generation sequencing.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Article
- Article
- Concurrent Aspirin Use Is Associated with Improved Outcome in Rectal Cancer Patients Who Undergo Chemoradiation Therapy.Cancers · 2021Article
- Droplet-digital PCR reveals frequent mutations in TERT promoter region in breast fibroadenomas and phyllodes tumours, irrespective of the presence of MED12 mutations.British journal of cancer · 2021Article
- SLAM-MS: Mutation scanning of stem-loop amplicons with TaqMan probes by quantitative DNA melting analysis.Scientific reports · 2020Article
- The genomic mutation spectrums of breast fibroadenomas in Chinese population by whole exome sequencing analysis.Cancer medicine · 2019Article
- Asymmetric real-time PCR and multiplex melting curve analysis with TaqMan probes for detecting PIK3CA mutations.Data in brief · 2015Article
Corrections and comments
- Erratum issued
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Somatic mutations in the PIK3CA gene have been discovered in many human cancers, and their presence correlates to therapy response. Three "hotspot" mutations within the PIK3CA gene are localized in exons 9 and 20. High-resolution melting analysis (HRMA) is a highly sensitive, robust, rapid, and cost-effective mutation analysis technique. We developed a novel methodology for the detection of hotspot mutations in exons 9 and 20 of the PIK3CA gene that is based on a combination of PCR and HRMA. The PIK3CA HRMA assay was evaluated by performing repeatability, sensitivity, and comparison with DNA sequencing studies and was further validated in 129 formalin-fixed paraffin-embedded breast tissue samples: 99 tumors, 20 noncancerous, and 10 fibroadenomas. The developed methodology was further applied in a selected group of 75 breast cancer patients who underwent Trastuzumab treatment. In sensitivity studies, the assay presented a capability to detect as low as 1% of mutated dsDNA in the presence of wtDNA for both exons. In the 99 tumor samples (validation group), 12/99 (12.1%) exon 9 mutations and 20/99 (20.2%) exon 20 mutations were found. No mutations were found in noncancerous tissues. In fibroadenomas, we report one PIK3CA mutation for the first time. In the selected group, 30/75 (40%) samples were detected as mutants. The PIK3CA HRMA assay is highly sensitive, reliable, cost-effective, and easy-to-perform, and therefore can be used as a screening test in a high-throughput pharmacodiagnostic setting.
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