^
Contact us  to learn more about
our Premium Content:  News alerts, weekly reports and conference planners
BIOMARKER:

PIK3CA E542K

i
Entrez ID:
Related biomarkers:
Related tests:
2ms
Recombinase polymerase amplification in combination with electrochemical readout for sensitive and specific detection of PIK3CA point mutations. (PubMed, Anal Chim Acta)
Characterization of the two different approaches in terms of sensitivity results in comparable detection limits (229 copies μL-1 and 224 copies μL-1, respectively), though RPA followed by lambda exonuclease digestion yields significantly higher currents. Finally, this method, together with a designed wild-type blocking oligo that inhibits binding of the wild-type target DNA during probe-target hybridization, allows for detecting the PIK3CA point mutations H1047R, E545K, and E542K in the presence of wild-type target DNA when the proportion of mutant target DNA is >20%.
Journal • Combination therapy
|
PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
|
PIK3CA mutation • PIK3CA H1047R • PIK3CA E545K • PIK3CA E542K • PIK3CA E545 • PIK3CA E542
2ms
Concordance Analysis of Non-Invasive determination techniques of PIK3CA and ESR1 mutations in patients with advanced luminal breast cancer. Study CANIPE (SABCS 2024)
However, clinical trials have been predominantly carried out with selected populations and single drugs (Palbociclib, Ribociclib or Abemaciclib). At baseline, and considering the pre-defined criteria, ctDNA analysis detected PIK3CA mutations in 32.25% and 44.44% of patients by AVENIO and ddPCR, respectively. ESR1 mutations were detected in 3.22% and 9.37% by AVENIO and ddPCR, respectively. For PIK3CA mutations, the Kappa value was 0.62 (p-value: 0.0004) and 0.47 for ESR1 mutations (p-value: 0.0039).
Clinical • Metastases • Discordant
|
HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
|
HR positive • HER-2 negative • PIK3CA mutation • PIK3CA H1047R • PIK3CA E545K • ER mutation • ER D538G • PIK3CA E542K • ER Y537N • PIK3CA E545 • PIK3CA E542 • PIK3CA C420R • PIK3CA E545A • PIK3CA N345K • ER Y537C • PIK3CA E545G • PIK3CA Q546 • PIK3CA Q546K
|
AVENIO ctDNA Expanded Kit
|
Ibrance (palbociclib) • Verzenio (abemaciclib) • Kisqali (ribociclib)
2ms
Clinicogenomic landscape and function of PIK3CA, AKT1, and PTEN mutations in breast cancer (SABCS 2024)
Background The AKT inhibitor capivasertib was recently approved in the 2L+ setting for patients (pts) with hormone receptor-positive metastatic breast cancer with alterations in PIK3CA, AKT1, and/or PTEN...However, one-third of patients have variants beyond E542, E545, and H1047 with less certainty about targetability. The preponderance of rare PIK3CA mutations and co-occurrences between PIK3CA, AKT1, and PTEN with genes outside the PI3K pathway merits functional investigation.
HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • RB1 (RB Transcriptional Corepressor 1) • NF1 (Neurofibromin 1) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • CDH1 (Cadherin 1) • SOX2 • MAP3K1 (Mitogen-Activated Protein Kinase Kinase Kinase 1)
|
TP53 mutation • HR positive • HER-2 negative • PIK3CA mutation • PIK3CA H1047R • PTEN mutation • PIK3CA E545K • PIK3CA E542K • AKT1 mutation • PIK3CA E545 • PIK3CA H1047 • PIK3CA E542
|
FoundationOne® CDx
|
Truqap (capivasertib)
2ms
Molecular characteristics of advanced colorectal cancer and multi-hit PIK3CA mutations. (PubMed, Oncologist)
Multi-hit mutations in PIK3CA are seen in 1.7% of advanced CRC, a meaningful prevalence given the high burden of CRC worldwide, and may represent a subset of patients that have enhanced sensitivity to PI3K inhibition. Future investigation regarding the clinical utility of PI3K inhibitors is warranted in multi-hit PIK3CA CRC.
Journal • MSi-H Biomarker • Metastases
|
KRAS (KRAS proto-oncogene GTPase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MSI (Microsatellite instability)
|
BRAF V600E • KRAS mutation • MSI-H/dMMR • PIK3CA mutation • BRAF V600 • PIK3CA H1047R • PIK3CA E545K • PIK3CA E542K • PIK3CA E545 • PIK3CA E542
2ms
Development and validation of a multi-marker liquid bead array assay for the simultaneous detection of PIK3CA and ESR1 hotspot mutations in single circulating tumor cells (CTCs). (PubMed, Heliyon)
The developed novel multi-marker liquid bead array assay for the simultaneous detection of PIK3CA and ESR1 hotspot mutations in single CTCs is highly specific, highly sensitive, high-throughput, and sample-, cost-, and time-saving. This multi-marker liquid bead array assay can be extended to detect up to 100 mutations in many genes at once and can be applied for bulk CTC and ctDNA analysis.
Journal • Circulating tumor cells • Tumor cell
|
HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
|
PIK3CA mutation • PIK3CA H1047R • PIK3CA E545K • ER mutation • ER Y537S • ER D538G • PIK3CA E542K • ESR1 mutation • ER Y537N • PIK3CA E545 • PIK3CA E542 • PIK3CA H1047L • ER Y537C
|
CELLSEARCH®
8ms
Understanding PI3K/Akt/mTOR signaling in squamous cell carcinoma: mutated PIK3CA as an example. (PubMed, Mol Biomed)
However, the role of mutated PIK3CA in adenocarcinoma has not been discussed. In addition, mutations occurring in other main members of the PI3K-AKT-mTOR signaling pathway other than PIK3CA were also excluded.
Review • Journal
|
PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
|
PIK3CA mutation • PIK3CA H1047R • PIK3CA E545K • PIK3CA E542K • PIK3CA E545 • PIK3CA E542 • PIK3CA H1047L
9ms
Novel 2-Aminobenzothiazole Derivatives: Docking, Synthesis, and Biological Evaluation as Anticancer Agents. (PubMed, ACS Omega)
PIK3CD/PIK3R1 (p110 δ/p85 α) is the most, with 65% inhibition, suggesting a possible mechanism of anticancer properties. Furthermore, the NCI 60-cell line inhibition demonstrates promising broad anticancer inhibition against numerous cancer cell lines of OMS5 and OMS14, which could be good lead compounds for future development.
Journal
|
PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • PIK3CG (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Gamma) • PIK3CD (Phosphatidylinositol-4 5-Bisphosphate 3-Kinase Catalytic Subunit Delta) • CDK2 (Cyclin-dependent kinase 2) • CDK1 (Cyclin-dependent kinase 1)
|
PIK3CA E542K • PIK3CA E542
10ms
Detection of hotspot PIK3CA mutations in primary tumors and plasma-cfDNA of breast cancer patients using a novel highly sensitive CE-IVD kit (AACR 2024)
The commercially available Oncolipsy PIK3CA CE-IVD kit is highly sensitive and specific for the detection of four PIK3CA hotspot mutations in primary tumors and plasma-cfDNA.
Clinical • Cell-free DNA
|
ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
|
ER positive • PIK3CA mutation • PIK3CA H1047R • PIK3CA E545K • PIK3CA E542K • PIK3CA E545 • PIK3CA E542
|
cobas® PIK3CA Mutation Test
10ms
Genomic Insights into Bone Sarcomas Originating from Infarcts (USCAP 2024)
Bone sarcomas associated with infarcts exhibit genomic instability, with pronounced copy number variations, especially in Chromosome 12. CDKN2A/B homozygous deletion is highly prevalent, whereas TP53 alterations appear less frequent than in osteosarcomas. MDM2 amplification and H3.3-G34 mutations are recurrent (33%).
TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • HRD (Homologous Recombination Deficiency) • HRAS (Harvey rat sarcoma viral oncogene homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • DNMT3A (DNA methyltransferase 1) • MDM2 (E3 ubiquitin protein ligase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
|
PIK3CA mutation • HRD • MDM2 amplification • CDKN2A deletion • HRAS mutation • HRAS G13R • PIK3CA E542K • PIK3CA E542 • HRAS G13R
|
TruSight Oncology 500 Assay
11ms
A novel label-free capillary electrophoresis LED-induced fluorescence platform based on catalytic hairpin assembly for sensitive detection of multiple circulating tumor DNA. (PubMed, Analyst)
The results of this study show that this strategy has significant advantages such as high selectivity, a simple process, no special instruments and equipment, no need for fluorescence modification of hairpin probes in advance, high automation, low cost, and minimal sample consumption. This provides a powerful method for the detection of trace cancer biomarkers in the serum matrix with good application prospects.
Journal • Circulating tumor DNA
|
TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
|
PIK3CA E542K • PIK3CA E542
11ms
ACEK Biosensor for the Minute-Scale Quantification of Breast Cancer ctDNA. (PubMed, Sensors (Basel))
This research provides a label-free and minute-scale universal method for the detection of various malignant tumors. The ctDNA biosensors based on the ACEK effect improved according to the probe type or electrode structure and have potential applications in tumor drug efficacy prediction, drug resistance monitoring, screening of high-risk groups, differential diagnosis, monitoring of tiny residual lesions, and prognosis determination.
Journal • Circulating tumor DNA
|
PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
|
PIK3CA mutation • PIK3CA E542K • PIK3CA E542
11ms
Whether specific genetic feature predicted immunotherapy efficacy: A case report. (PubMed, Medicine (Baltimore))
PIK3CA-E542K, ErbB2 amplification, and SMAD4 mutations could be potential biomarkers for PD-1 inhibitors, but a single instance is insufficient to validate the hypotheses. A larger number of patients or more clinical data will be necessary to determine whether these gene mutations are appropriate biomarkers for patients when treatment with PD-1 inhibitors.
Journal • Tumor mutational burden • MSi-H Biomarker • PD(L)-1 Biomarker • IO biomarker
|
HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • ALK (Anaplastic lymphoma kinase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • SMAD4 (SMAD family member 4) • TYK2 (Tyrosine Kinase 2)
|
MSI-H/dMMR • HER-2 amplification • PIK3CA mutation • HER-2 mutation • PD-L1 negative • PIK3CA E545K • TMB-L • ALK mutation • PIK3CA E542K • SMAD4 mutation • PIK3CA E545 • PIK3CA E542
|
Yutuo (zimberelimab)
1year
Enrollment change • Metastases
|
HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
|
ER positive • HER-2 negative • PIK3CA mutation • PIK3CA H1047R • PIK3CA E545K • PIK3CA E542K • PIK3CA E545 • PIK3CA E542 • PIK3CA H1047L • PGR expression
|
capecitabine • Piqray (alpelisib) • fulvestrant • goserelin acetate
1year
Identification of functional HLA-A*11:01-restricted driver gene PIK3CA mutation specific T-cell receptors (SABCS 2023)
These findings strongly encourage further investigation into TCRs targeting driver mutations in MBC, with the aim of advancing neoantigen-targeted TCR-T therapies into clinical trials. Additionally, the PIK3CA_H1047L neoantigen holds great promise as a potential candidate for the development of effective cancer vaccines.
IO biomarker
|
PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • IFNG (Interferon, gamma) • TNFRSF9 (TNF Receptor Superfamily Member 9) • TAP1 (Transporter 1)
|
PIK3CA mutation • PIK3CA H1047R • PIK3CA E545K • PIK3CA E542K • IFNG expression • PIK3CA E545 • PIK3CA E542 • PIK3CA H1047L • HLA-A*11
1year
Comparison of next-generation sequencing (NGS) results from the cerebrospinal fluid, peripheral blood, and systemic metastatic tumor tissue of patients with metastatic breast cancer (MBC) and leptomeningeal disease (LMD) (SABCS 2023)
We observed concordance and heterogeneity in the status of actionable mutations between the CSF, peripheral blood, and systemic metastatic tumor tissue. Larger studies are needed to assess the clinical utility of these observations, particularly with the development of several novel targeted agents that are CNS-penetrant.
Clinical • Next-generation sequencing • Metastases
|
HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
|
TP53 mutation • HER-2 amplification • HER-2 negative • PIK3CA mutation • HER-2 mutation • ER Y537S • PIK3CA E542K • PIK3CA E545 • PIK3CA E542 • TP53 R273H
|
FoundationOne® CDx • Guardant360® CDx • CNSide™ Cerebrospinal Fluid Assay
1year
Title , Early Identification of KRAS and PIK3CA Mutations Using Multiplex Digital PCR Compatible with Liquid Biopsy Samples to Support Tumor Progression Surveillance (AMP 2023)
We developed a comprehensive multiplex mutant detection method with high sensitivity and specificity. This study demonstrates the strong potential of Absolute Q dPCR as a powerful multiplex platform for early mutation detection and monitoring in liquid biopsy samples.
Liquid biopsy • Biopsy
|
KRAS (KRAS proto-oncogene GTPase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
|
KRAS mutation • KRAS G12C • PIK3CA mutation • KRAS G12D • PIK3CA H1047R • KRAS wild-type • PIK3CA E545K • RAS wild-type • KRAS G12 • PIK3CA E542K • KRAS G12S • PIK3CA E545 • PIK3CA E542 • PIK3CA H1047L • PIK3CA mutation + KRAS mutation
1year
Analysis of several common APOBEC-type mutations in bladder tumors suggests links to viral infection. (PubMed, Cancer Prev Res (Phila))
BKPyV tumor positivity in the NMIBC subset with FGFR3- or PIK3CA-mutated tumors was also associated with a higher risk of progression to MIBC (p=0.019). In conclusion, our results support smoking and BKPyV infection as risk factors contributing to bladder tumorigenesis in the general patient population through distinct molecular mechanisms.
Journal
|
PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • FGFR3 (Fibroblast growth factor receptor 3)
|
PIK3CA mutation • PIK3CA E545K • FGFR3 mutation • FGFR3 S249C • PIK3CA E542K • PIK3CA E545 • PIK3CA E542 • FGFR3 Y375C
over1year
Clear Cell Squamous Cell Carcinoma of the Maxillary Gingiva Associated with PIK3CA and HRAS Mutations: Report of a Case and Literature Review. (PubMed, Head Neck Pathol)
We report a case of CCSCC of the oral cavity with PIK3CA and HRAS mutations. The identification of PIK3CA and/or HRAS mutations is rare in SCC; however, both mutations are important potential targets for antitumor therapy. A detailed analysis of gene mutations in CCSCC may lead to a better understanding of its biological behavior and an improved prognosis, as well as a differential diagnosis from other clear cell neoplasms.
Review • Journal
|
KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • PTEN (Phosphatase and tensin homolog) • HRAS (Harvey rat sarcoma viral oncogene homolog) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • EWSR1 (EWS RNA Binding Protein 1) • MME (Membrane Metalloendopeptidase) • MLANA (Melan-A) • TP63 (Tumor protein 63) • MAML2 (Mastermind Like Transcriptional Coactivator 2) • RASA1 (RAS P21 Protein Activator 1)
|
TP53 mutation • PIK3CA mutation • PTEN mutation • KRAS G12A • HRAS mutation • PIK3CA E542K • NRAS G12 • PIK3CA E542
over1year
PIK3CA mutations in cutaneous squamous cell carcinoma. (PubMed, Intractable Rare Dis Res)
Although additional basic researches and clinical trials are necessary, various inhibitors may be effective therapeutics for PIK3CA mutation-positive cSCC. Our study revealed the prevalence of PIK3CA mutations in cSCC.
Journal
|
PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
|
PIK3CA mutation • PIK3CA H1047R • PIK3CA E545K • PIK3CA E542K • PIK3CA E545 • PIK3CA E542
over1year
Real-world challenges in undertaking NTRK fusion testing in non-small cell lung cancer. (PubMed, J Thorac Dis)
NTRK fusions in NSCLC are rare. This study highlights real world diagnostic challenges regarding NTRK testing, such as requirements of adequate tumor tissue and appropriate testing methodologies.
Journal • Real-world evidence • PD(L)-1 Biomarker • IO biomarker • Real-world
|
EGFR (Epidermal growth factor receptor) • PD-L1 (Programmed death ligand 1) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MET (MET proto-oncogene, receptor tyrosine kinase) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • EML4 (EMAP Like 4) • NTRK (Neurotrophic receptor tyrosine kinase)
|
PD-L1 expression • EGFR mutation • PIK3CA mutation • NTRK3 fusion • MET amplification • MET mutation • PIK3CA E542K • PIK3CA E542 • EML4-NTRK3 fusion • NTRK expression • NTRK fusion
over1year
Adjuvant aromatase inhibitors in patients with PIK3CA mutation early breast cancer (ESMO 2023)
Methods We studied a unicentre cohort of 262 patients with steroid hormone receptor-positive, HER2-negative eBC, who were planed to be treated with endocrine therapy only: aromatase inhibitor (AI, n=183) or Tamoxifen (TAM, n=69), AI and TAM (n=9), Fulvestrant (n=1) and tested the three most common somatic PIK3CA gene mutations (H1047R, E545K, E542K) by qPCR. Conclusions Although we observed a trend that AIs are less effective in patients with PIK3CA mutated tumours, formal validation is still lacking. Further data including prospective studies are required.
Clinical
|
HER-2 (Human epidermal growth factor receptor 2) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
|
HR positive • HER-2 negative • PIK3CA mutation • PIK3CA H1047R • PIK3CA E545K • PIK3CA E542K • HR positive + HER-2 negative • PIK3CA E545 • PIK3CA E542 • PIK3CA wild-type
|
tamoxifen • fulvestrant
over1year
ORA-LM: Molecular Analysis in Cerebrospinal Fluid of ALK or EGFR Positive NSCLC Patients with Leptomeningeal Metastases (IASLC-WCLC 2023)
However, the MRI acquired four weeks after adding capmatinib showed partial response (PR) of LM.Patients with ALK+ NSCLC switched from alectinib [n=2] or brigatinib [n=1] to lorlatinib following LP. Although we identified the primary driver in 26 out of 28 patients with EGFRm+ NSCLC, only seven CSF samples showed RM (ERBB2, EGFR and PIK3CA). Commonly identified RMs in systemic progression such as EGFR C797X and METamp were not identified in CSF or plasma. Identifying resistance mechanisms to targeted therapy in LM proves difficult.
Clinical
|
EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
|
EGFR mutation • ALK positive • PIK3CA E545K • ALK fusion • PIK3CA E542K • EGFR positive • BRAF K601E • PIK3CA E545 • PIK3CA E542 • BRAF K601
|
Tagrisso (osimertinib) • Alecensa (alectinib) • Lorbrena (lorlatinib) • Alunbrig (brigatinib) • Tabrecta (capmatinib)
over1year
PIK3CA mutation subtype delineates distinct immune profiles in gastric carcinoma. (PubMed, J Pathol)
© 2023 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland
Journal • MSi-H Biomarker • PD(L)-1 Biomarker • IO biomarker
|
PD-L1 (Programmed death ligand 1) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MSI (Microsatellite instability) • CD8 (cluster of differentiation 8) • PTPRC (Protein Tyrosine Phosphatase Receptor Type C) • GZMB (Granzyme B) • VSIR (V-Set Immunoregulatory Receptor)
|
MSI-H/dMMR • PIK3CA mutation • PIK3CA H1047R • PIK3CA E545K • PIK3CA E542K • PIK3CA E545 • PIK3CA E542 • PIK3CA E545X
over1year
Multigenic testing of somatic mutations in solid tumor cells (EACR 2023)
In 10% of cases, an increase in the number of copies of the EGFR and KRAS genes was found, and in 10% of cases, a fusion gene (RNA) MET- MET.M13M15, TMPRSS2-ERG.The identified genome changes were processed by the server through the FDA, NCCN, EMA, ESMO registries to search for the most appropriate therapy options that exist in world practice for a specific type and localization of the established mutation.ConclusionConclusion. For personalized prescription of targeted drugs, it is more efficient to use multigene diagnostics for a comprehensive study of the mutational status of a tumor.
Tumor cell
|
EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • FGFR3 (Fibroblast growth factor receptor 3) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • FGFR4 (Fibroblast growth factor receptor 4) • CREBBP (CREB binding protein) • ERG (ETS Transcription Factor ERG) • JAK3 (Janus Kinase 3)
|
KRAS mutation • BRAF mutation • PIK3CA mutation • PIK3CA E542K • IDH1 R132H • BRAF G469V • PIK3CA E545 • IDH1 R132 • JAK3 mutation • PIK3CA E542 • PIK3CA H1047L • TMPRSS2-ERG fusion
|
Oncomine Focus Assay
over1year
Potential therapeutic implications of next generation sequencing (NGS)-based molecular profiling in HR+/HER2- metastatic breast cancer (mBC). (ASCO 2023)
PIK3CA is among the most frequently mutated genes in BC (approximately 40% of cases) and its mutations portend sensitivity to PI3K inhibitors, such as alpelisib, in combination with hormonal treatment in HR+/HER2- cases... In our analysis PIK3CA was confirmed to be the most frequently mutated gene (51% of cases); however, due to the specific European regulatory constraints, it was deemed to be actionable in a minority of cases, suggesting that NGS profiling should be performed early on after the diagnosis of metastatic disease, in order to inform the overall therapeutic strategy. Other potentially actionable alterations (FGFR1/2, AKT, HER2 ex 20 mutations) emerged from extended NGS profiling, suggesting its potential utility in selected HR+/HER2- mBC pts.
Tumor mutational burden • BRCA Biomarker • Next-generation sequencing • Metastases
|
HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • FGFR1 (Fibroblast growth factor receptor 1) • CCND1 (Cyclin D1) • PALB2 (Partner and localizer of BRCA2) • CDH1 (Cadherin 1) • NSD3 (Nuclear Receptor Binding SET Domain Protein 3) • RAD21 (RAD21 Cohesin Complex Component)
|
HER-2 negative • PIK3CA mutation • HER-2 mutation • PIK3CA H1047R • FGFR1 amplification • PALB2 mutation • PIK3CA E545K • CCND1 amplification • PIK3CA E542K • PIK3CA E545 • PIK3CA E542 • PIK3CA N345K
|
FoundationOne® CDx • TruSight Oncology 500 Assay
|
Piqray (alpelisib)
almost2years
Concordance of Actionable Mutations in Liquid Biopsies and Matched Tumor Tissue of Brazilian Non-small Cell Lung Cancer (NSCLC) (LALCA 2023)
The NGS panel could successfully detect actionable mutations in liquid biopsies with a high concordance rate and sensitivity. The detection of variants in cfDNA, but not in tDNA, suggests a greater representativeness of the mutational tumor spectrum in samples of liquid biopsies opening perspectives for employing this approach in the routing setting. The NGS assay for liquid biopsy may decrease tissue biopsies and turnaround time for report release, accelerating therapeutic strategies for NSCLC patients.
Liquid biopsy • Biopsy • Discordant
|
EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MAP2K1 (Mitogen-activated protein kinase kinase 1)
|
KRAS G12C • EGFR T790M • KRAS G12D • KRAS G12V • KRAS G13D • KRAS G12 • PIK3CA E542K • KRAS G13 • TP53 R175H • KRAS Q61H • ALK R1275Q • BRAF G469A • EGFR E709K • MAP2K1 P124Q • PIK3CA E542 • TP53 R248Q • TP53 Y220C • EGFR E746 • MAP2K1 E203K • MAP2K1 P124 • TP53 R273C
|
Oncomine™ Lung cfDNA Assay
2years
Comprehensive mutation profiling of PIK3CA gene in Indian breast cancer patients. (EBCC 2022)
A smaller fraction of H1047R in blood compared to a tumor indicates its low copy number in circulation. Thus H1047R mutation can be used as a predictive pCR and the development of a specific inhibitor against this mutation may be useful in the fight against this breast cancer subtype.
Clinical
|
PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
|
PIK3CA mutation • PIK3CA H1047R • PIK3CA E542K • PIK3CA E542 • PIK3CA H1047L • PIK3CA Q546 • PIK3CA Q546K
2years
PIK3CA-mutations in breast cancer. (PubMed, Breast Cancer Res Treat)
This cohort study speficies the overall mutation rate of PIK3CA in early breast cancer. The impact of PIK3CA-mutations on RFI and OS was heterogeneous. Our results suggest that estrogen deprivation failes to be active in case of PIK3CA-mutation.
Journal
|
HER-2 (Human epidermal growth factor receptor 2) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
|
HER-2 positive • HER-2 negative • PIK3CA mutation • PIK3CA H1047R • PIK3CA E545K • PIK3CA E542K • PIK3CA E545 • PIK3CA E542
|
tamoxifen
2years
Prognostic implications of PIK3CA mutation by hormone receptor status and intrinsic subtype in early stage HER2-positive breast cancer: a correlative analysis from CALGB 40601 (SABCS 2022)
Using only the subset of patients treated with neoadjuvant trastuzumab-based therapy as standard of care (excluding the lapatinib plus paclitaxel arm), we found a statistically significant lower pCR rate among PIK3CA-mutated tumors using logistic regression model (30% vs 54%, OR=0.30, p=0.045). Conclusion In our study, the presence of PIK3CA mutation was significantly associated with lower pCR rates in patients treated with chemotherapy plus trastuzumab. Moreover, in uni- and multivariable Cox models, PIK3CA mutations were associated with worse long-term survival, which appeared to be driven by HR-positive and luminal HER2-positive breast tumors.
HER-2 (Human epidermal growth factor receptor 2) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
|
HER-2 positive • HR positive • PIK3CA mutation • PIK3CA H1047R • PIK3CA E545K • PIK3CA E542K • PIK3CA E545 • PIK3CA E542
|
Prosigna™ Breast Cancer Prognostic Gene Signature Assay
|
Herceptin (trastuzumab) • paclitaxel • lapatinib
2years
Identification of Shared Neoantigens in BRCA1-Related Breast Cancer. (PubMed, Vaccines (Basel))
For germline BRCA1-mutated breast cancer, TP53 R175H was unanimously the most frequent mutation among the three germline cohorts. Our study provides lists of potential shared neoantigens among BRCA1-related breast cancer, which may be used in developing off-the-shelf neoantigen-based vaccines.
Journal • BRCA Biomarker
|
TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset)
|
TP53 mutation • BRCA1 mutation • PIK3CA mutation • PIK3CA H1047R • PIK3CA E545K • PIK3CA E542K • TP53 R175H • PIK3CA E545 • PIK3CA E542 • BRCA1 positive • PIK3CA N345K • BRCA1 negative
2years
Detection of Somatic Variants in Breast Cancer Specimens Using the Novel AGENA ClearSEEK PIK3CA Panel on the MassARRAY System (AMP 2022)
"The PI3K inhibitor alpelisib has been recently approved for the treatment of HR+/HER2- metastatic breast cancer with PIK3CA mutations (PIK3CAmut)... The AGENA ClearSEEK PIK3CA Panel combines both low DNA input and hands-on time requirements with accurate data assessment and provides a high-sensitive and reliable tool to perform PIK3CA analysis of clinically actionable mutations in breast cancer tumors."
HER-2 (Human epidermal growth factor receptor 2) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
|
HER-2 negative • PIK3CA mutation • PIK3CA H1047R • PIK3CA E545K • PIK3CA E542K • PIK3CA E545 • PIK3CA E542
|
therascreen® PIK3CA RGQ PCR Kit • ClearSEEK™ PIK3CA Panel
|
Piqray (alpelisib)
over2years
Comparative molecular dynamics analyses on PIK3CA hotspot mutations with PI3Kα specific inhibitors and ATP. (PubMed, Comput Biol Chem)
Among these, PI3Kα specific inhibitor alpelisib was approved by FDA for breast cancer and other α-isoform specific inhibitors such as inavolisib and serabelisib reached clinical trials. Moreover, correlated motions of all residues were generally higher for ATP except the H1047R mutation which exhibited a distinguishable reduction. The results presented here could be guiding for pre-clinical and clinical studies of personalized medicine where individual mutations are a strong consideration point.
Journal
|
PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
|
PIK3CA mutation • PIK3CA H1047R • PIK3CA E545K • PIK3CA E542K • PIK3CA E545 • PIK3CA E542
|
Piqray (alpelisib) • Itovebi (inavolisib) • serabelisib (MLN1117)
over2years
Mutational landscape of pan-cancer patients with PIK3CA alterations in Chinese population. (PubMed, BMC Med Genomics)
Compared with the Western cohort, the mutation frequency of PIK3CA in breast cancer was reduced in the Chinese cohort. RTK/RAS pathway, PI3K pathway and P53 pathway were identified as the most common co-mutation pathways, suggesting that they may potentially serve as targets for possible Alpelisib-based combination therapy.
Journal • BRCA Biomarker • Pan tumor
|
EGFR (Epidermal growth factor receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA (Breast cancer early onset) • FAT1 (FAT atypical cadherin 1)
|
TP53 mutation • KRAS mutation • EGFR mutation • PIK3CA mutation • PIK3CA H1047R • PIK3CA E545K • PIK3CA E542K • PIK3CA E545 • BRCA mutation • PIK3CA E542
|
Piqray (alpelisib)
over2years
A pump-free and high-throughput microfluidic chip for highly sensitive SERS assay of gastric cancer-related circulating tumor DNA via a cascade signal amplification strategy. (PubMed, J Nanobiotechnology)
To verify the experimental accuracy, the gold-standard qRT-PCR assay was utilized, and the results showed a high degree of consistency. Thus, this rapid, sensitive and cost-effective SERS microfluidic chip has potential as an ideal detection platform for ctDNA monitoring.
Journal • Circulating tumor DNA
|
TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
|
PIK3CA E542K • PIK3CA E542
over2years
Study to Evaluate the Safety and Efficacy of Sirolimus, in Subject With Refractory Solid Tumors (clinicaltrials.gov)
P4, N=6, Completed, Samsung Medical Center | Unknown status --> Completed | N=25 --> 6
Trial completion • Enrollment change
|
PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog)
|
PIK3CA mutation • PIK3CA H1047R • PIK3CA E545K • PIK3CA amplification • PIK3CA E542K • PIK3CA E545 • PIK3CA E542 • AKT1 amplification
|
sirolimus
over2years
Detection of PIK3CA hotspot mutations in paired circulating tumor DNA and circulating tumor cells in patients with metastatic breast cancer (GSS 2022)
The ddPCR results revealed that 32.8% (n=22) of the ctDNA samples contained our target mutation alleles. CTCs were found in 77.2% (17/22) of these mutated samples and NGS results showed 87.5% concordance in analyzed CTCs for our targeted hot spot mutations with ctDNA results from ddPCR. The presence of PIK3CA hot spot mutations detected in both CTCs and ctDNA (n=29) was 86.2% concordant.
Clinical • Circulating tumor cells • Circulating tumor DNA
|
PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
|
PIK3CA mutation • PIK3CA H1047R • PIK3CA E545K • PIK3CA E542K • PIK3CA E545 • PIK3CA E542 • PIK3CA H1047L
|
CELLSEARCH®
over2years
High incidence of PI3K pathway gene mutations in South Indian cervical cancers. (PubMed, Cancer Genet)
The high incidence of the PI3K pathway gene mutations observed in this study could be exploited for the therapeutic management of cervical cancers.
Journal
|
PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • mTOR (Mechanistic target of rapamycin kinase) • TSC2 (TSC complex subunit 2) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1)
|
PIK3CA mutation • PTEN mutation • PIK3CA E545K • PIK3CA E542K • AKT1 mutation • TSC2 mutation • MTOR mutation • PIK3CA E545 • PIK3CA E542 • PIK3R1 mutation
over2years
Evaluation of somatic and germline variants in patients with small bowel adenocarcinoma reveals clinically actionable targets. (ASCO 2022)
Of the entire cohort, we observed five activating PIK3CA mutations (R108H; G364R; E542K; E545K, n = 2) which may be sensitive to FDA-approved PIK3CA inhibitor alpelisib. Additionally, patients with loss-of-function mutation in NF1 (n = 2), STK11 (n = 1) and PTEN (n = 1) can be targeted with MEK inhibitor selumetinib and mTOR inhibitor everolimus, respectively. Except for one V600E mutation, all mutations in BRAF are either type 2 (L597R, n = 1) or type 3 (N581S, n = 1; D594N, n = 4) which were sensitive to MEK inhibitor trametinib...Interestingly, one IDH1 mutation (R132C) carrier in our cohort might benefit from ivosidenib... Through comprehensive genomic characterization of Chinese SBA patients, we identified actionable variants of multiple signaling pathways in plenty. NGS profiling results can guide physicians to enroll a significant portion of SBA patients in genomically-matched clinical trials.
Clinical • IO biomarker
|
KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MSI (Microsatellite instability) • PTEN (Phosphatase and tensin homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • STK11 (Serine/threonine kinase 11) • MAP2K1 (Mitogen-activated protein kinase kinase 1) • NF1 (Neurofibromin 1) • MDM2 (E3 ubiquitin protein ligase) • MLH1 (MutL homolog 1) • SMAD4 (SMAD family member 4) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • KMT2C (Lysine Methyltransferase 2C) • FGF3 (Fibroblast growth factor 3) • ARID2 (AT-Rich Interaction Domain 2) • FAT3 (FAT Atypical Cadherin 3) • ERCC5 (ERCC Excision Repair 5 Endonuclease 2) • SOX9 (SRY-Box Transcription Factor 9) • SPTA1 (Spectrin Alpha)
|
TP53 mutation • BRAF V600E • KRAS mutation • HER-2 amplification • PIK3CA mutation • BRAF V600 • IDH1 mutation • PTEN mutation • STK11 mutation • PIK3CA E545K • NF1 mutation • HER-2 S310F • HER-2 V777L • PIK3CA E542K • IDH1 R132C • PIK3CA E545 • BRAF L597R • HER-2 V842I • IDH1 R132 • PIK3CA E542 • BRAF D594N • MAP2K1 F53L • MAP2K1 K57E • MAP2K1 K57N • BRAF L597 • HER-2-H
|
Onco PanScan™
|
Mekinist (trametinib) • everolimus • Koselugo (selumetinib) • Piqray (alpelisib) • Tibsovo (ivosidenib)
over2years
Fulvestrant plus capivasertib versus fulvestrant plus placebo after relapse or progression on an aromatase inhibitor in metastatic, estrogen receptor–positive breast cancer (FAKTION): Overall survival and updated progression-free survival data with enhanced biomarker analysis. (ASCO 2022)
Updated analysis of the FAKTION trial data show a significant improvement in OS in the ITT population. Enhanced subgroup analysis suggests that the benefit of capivasertib in both PFS and OS may be predominantly in patients with PIK3CA/AKT1/PTEN pathway altered tumours, but further elucidation will be forthcoming from the ongoing Phase 3 CAPItello-291 study in which participants with PA and PNA tumours have been recruited.
Clinical
|
HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
|
ER positive • PIK3CA mutation • PIK3CA H1047R • PTEN mutation • PIK3CA E545K • PIK3CA E542K • AKT1 mutation • PIK3CA E545 • PIK3CA E542 • PIK3CA H1047L
|
FoundationOne® CDx • GuardantOMNI
|
fulvestrant • Truqap (capivasertib)
over2years
Molecular characteristics of advanced colorectal cancer and multi-hit PIK3CA mutations. (ASCO 2022)
The PI3Kα inhibitor alpelisib has been approved for breast cancer where a single PIK3CA activating mutation is sufficient for response... Double-hit mutations in PIK3CA are seen in 1.7% of advanced CRC patients and may represent a subset of patients that may have enhanced sensitivity to PI3K inhibitors. Given the high prevalence of CRC in the United States and worldwide this represents a clinically meaningful prevalence of multi-hit PIK3CA. Future investigation on the clinical utility of PI3K inhibitors may be warranted in multi-hit PIK3CA CRC.
MSi-H Biomarker
|
KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MSI (Microsatellite instability)
|
KRAS mutation • MSI-H/dMMR • BRAF mutation • PIK3CA mutation • PIK3CA H1047R • PIK3CA E545K • PIK3CA E542K • PIK3CA E545 • PIK3CA E542
|
Piqray (alpelisib)