ArticleCancer science2018
PIK3CA mutation profiling in patients with breast cancer, using a highly sensitive detection system.
Article in Cancer science, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 47 citations in OpenAlex.
- Detection ofBiomolecules · 2021Trial
- Expert recommendations for PIK3CA testing in HR+/HER2- locally advanced and metastatic breast cancer.NPJ breast cancer · 2026Review
- Evaluating the Cost of Genomic Testing for Biomarker-Driven Therapies in Oncology.Oncology and therapy · 2026Article
- Detection of Cancer-Associated Mutations Using Primer Exchange Reaction-Based Signal Amplification and Lateral Flow Assays.Small science · 2026Article
- Engineered crRNA Drives RPA-T7-CRISPR/Cas14a Cascade for Ultrasensitive Detection of ctDNA PIK3CA H1047R.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- The multifaceted anticancer potential of luteolin: involvement of NF-κB, AMPK/mTOR, PI3K/Akt, MAPK, and Wnt/β-catenin pathways.Inflammopharmacology · 2025Review
- A NovelBiomedicines · 2024Article
- Review
- CRUX, a platform for visualising, exploring and analysing cancer genome cohort data.NAR genomics and bioinformatics · 2024Article
- Identification of breast cancer-associated PIK3CA H1047R mutation in blood circulation using an asymmetric PCR assay.PloS one · 2024Article
- Advancing Cancer Therapy Predictions with Patient-Derived Organoid Models of Metastatic Breast Cancer.Cancers · 2023Article
- Allele-Specific PCR for PIK3CA Mutation Detection Using Phosphoryl Guanidine Modified Primers.Diagnostics (Basel, Switzerland) · 2023Article
- Hotspot mutation profiles of AKT1 in Asian women with breast and endometrial cancers.BMC cancer · 2021Article
- Circulating Tumor Cells as a Tool to Untangle the Breast Cancer Heterogeneity Issue.Biomedicines · 2021Review
- Targeting the PI3K/AKT/mTOR Signaling Pathway in Lung Cancer: An Update Regarding Potential Drugs and Natural Products.Molecules (Basel, Switzerland) · 2021Review
- Nanopore Identification of Single Nucleotide Mutations in Circulating Tumor DNA by Multiplexed Ligation.Clinical chemistry · 2021Article
- Landscape of somatic mutations in breast cancer: new opportunities for targeted therapies in Saudi Arabian patients.Oncotarget · 2021Article
- Interplay between Mitochondrial Metabolism and Cellular Redox State Dictates Cancer Cell Survival.Oxidative medicine and cellular longevity · 2021Review
- A framework for transcriptome-wide association studies in breast cancer in diverse study populations.Genome biology · 2020Article
- Molecular determinants of drug response in TNBC cell lines.Breast cancer research and treatment · 2020Article
Corrections and comments
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Authors and funding
16 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PIK3CA mutations are common activating mutations associated with breast cancer (occurring in 20-30% of all cases) and are potent predictive markers for responses to PI3K inhibitors. Thus, it is important to develop sensitive methods to detect these mutations. We established a novel detection method using a quenching probe (QP) system to identify PIK3CA mutations, using DNA from 309 breast cancer tissues. In a developmental cohort, we determined the optimal detection threshold of the QP system with human tumor DNA from 119 freshly frozen tumor samples. We found a 96% concordance rate with the QP system between DNA from 26 matching fresh-frozen specimens and formalin-fixed paraffin-embedded (FFPE) specimens from the same patients, and known PIK3CA mutation status in the developmental cohort. In a validation cohort, we evaluated whether the threshold for judging mutations using the QP system with frozen specimen-derived DNA was applicable with FFPE-derived DNA. In the validation cohort, 30 DNA samples from 190 FFPE-derived DNA samples with known PIK3CA mutation status were analyzed by direct sequencing (DS) and droplet digital PCR, in a blinded manner. The sensitivity and specificity of the droplet digital PCR results were 100% and 100% (QP system), and 60% and 100% (DS), respectively. We also analyzed the relationship between clinical outcomes and the PIK3CA mutational status of 309 breast cancer samples, including the developmental cohort and validation cohort samples. Multivariate analysis suggested that PIK3CA mutations, especially H1047R, were prognostic factors of relapse-free survival. Our novel detection system could be more useful than DS for detecting clinical PIK3CA mutations.
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