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    BIOMARKER:

    PIK3CA exon 9 mutation + HR positive

    i
    Other names: PIK3CA, Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha, Phosphoinositide-3-kinase, catalytic, alpha polypeptide, Serine/threonine protein kinase PIK3CA, PtdIns-3-kinase subunit P110-alpha, PI3K-alpha, Phosphatidylinositol-4,5-bisphosphate 3-kinase 110 KDa catalytic subunit alpha, Phosphatidylinositol 3-kinase, Catalytic, 110-KD, alpha, PI3-kinase P110 subunit alpha, PI3-kinase subunit alpha, PtdIns-3-kinase subunit alpha, PI3Kalpha, P110alpha, PI3K, ESR1, Era, ESR, NR3A1, ER, ER beta, PGR, Progesterone receptor, Nuclear receptor subfamily 3 group C member 3, NR3C3
    Entrez ID:
    2099; 5290; 5241
    Related biomarkers:
    Expression
    Mutation
    CNA
    Fusion
    Others
    over4years
    [VIRTUAL] Spectrum of Resistance Mechanisms to First, Second and Third Generation Tyrosine Kinase Inhibitors in EGFR Mutant NSCLC Patients (IASLC-WCLC 2021)
    Other mutations detected were CTNNB1 D32N, KRAS G12V, and PIK3CA E542K Conclusion Resistance development is unavoidable in EGFR mutant advanced NSCLC on any generation of TKIs. NGS offers an advantage in diagnosing mechanism of resistance for further choice of therapy.
    Clinical
    |
    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) • MET (MET proto-oncogene, receptor tyrosine kinase) • CTNNB1 (Catenin (cadherin-associated protein), beta 1)
    |
    TP53 mutation • KRAS mutation • EGFR mutation • KRAS G12C • BRAF mutation • PIK3CA mutation • EGFR L858R • EGFR exon 19 deletion • MET amplification • EGFR T790M • EGFR amplification • EGFR exon 20 insertion • PIK3CA H1047R • KRAS G12V • EGFR C797S • EGFR exon 19 mutation • MET mutation • EGFR exon 19 deletion + EGFR T790M • KRAS G12 • PIK3CA E542K • ALK translocation • EGFR exon 20 mutation • KRAS G13 • BRAF G469A • PIK3CA E542 • KRAS G13C • EGFR H835L • EGFR L833V • PIK3CA exon 9 mutation + HR positive • EGFR E709A • TP53 R213
    |
    Oncomine Focus Assay
    over4years
    [VIRTUAL] PI3K mutation is associated with reduced sensitivity to CDK4/6 inhibitors in metastatic breast cancer (ESMO 2021)
    21 (58.6%) patients were on palbociclib and 15 (41.4%) on ribociclib along with endocrine therapy. The incidence and type of PIK3CA mutation is similar to the data reported previously. The presence of de novo PI3K mutation confers a worse clinical outcome in HR-positive / HER2 negative metastatic breast cancer patients despite use of CDK4/6 inhibitors. The presence of de novo PIK3CA mutation should be assessed upfront.
    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 • HR positive + HER-2 negative • PIK3CA exon 9 mutation + HR positive • CDK4 mutation
    |
    therascreen® PIK3CA RGQ PCR Kit
    |
    Ibrance (palbociclib) • Kisqali (ribociclib)
    over4years
    Analysis of EGFR, KRAS, and PIK3CA gene mutation rates and clinical distribution in patients with different types of lung cancer. (PubMed, World J Surg Oncol)
    The EGFR, KRAS, and PIK3CA gene exon mutation rates differ and were shown to be correlated with different clinical indicators, which have significance in clinical treatment.
    Clinical • Journal
    |
    EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
    |
    KRAS mutation • EGFR mutation • PIK3CA mutation • PIK3CA exon 9 mutation + HR positive
    over4years
    Molecular follow-up of first-line treatment by osimertinib in lung cancer: Importance of using appropriate tools for detecting EGFR resistance mutation C797S. (PubMed, Cancer Genet)
    Indeed, for rapid results or low-costs procedures, some targeted methods specifically targeting T790M may be used at relapse and may overlook alterations such as C797S or PIK3CA mutations. Targeted next generation sequencing is therefore a recommended option.
    Clinical • Journal
    |
    EGFR (Epidermal growth factor receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
    |
    EGFR mutation • PIK3CA mutation • EGFR exon 19 deletion • EGFR T790M • EGFR exon 20 insertion • EGFR C797S • EGFR exon 20 mutation • EGFR mutation + PIK3CA mutation • PIK3CA exon 9 mutation + HR positive
    |
    Tagrisso (osimertinib)
    over4years
    Multi-Site Tumour Sampling Improves the Detection of Intra-Tumour Heterogeneity in Oral and Oropharyngeal Squamous Cell Carcinoma. (PubMed, Front Med (Lausanne))
    MSTS was more representative than RP. Therefore, MSTS can compensate the RP limitations in ITH detection especially in large tumours.
    Journal
    |
    TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CCND1 (Cyclin D1)
    |
    TP53 mutation • PIK3CA mutation • PIK3CA H1047R • CCND1 expression • PIK3CA exon 20 mutation + HR positive • PIK3CA exon 9 mutation + HR positive
    over4years
    INST 1204: PIK3CA Mutations as Biomarkers for Metastasis in Colon Cancer (clinicaltrials.gov)
    P=N/A, N=750, Completed, New Mexico Cancer Care Alliance | Recruiting --> Completed
    Trial completion
    |
    KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
    |
    KRAS mutation • BRAF mutation • PIK3CA mutation • PIK3CA exon 20 mutation + HR positive • PIK3CA exon 9 mutation + HR positive
    over4years
    Rare Occurrence of Microsatellite Instability in Gastrointestinal Stromal Tumors. (PubMed, Medicina (Kaunas))
    KIT exon 11 mutant patients were more favorable in responding to imatinib than those with exon 9 mutant or wild-type GISTs, and compared to non-KIT exon 11 mutant GISTs (p = 0.041)... Massively parallel sequencing can simultaneously provide the MSI status as well as the somatic mutation profile in a single test. This combined approach may help us to understand the molecular pathogenesis of GIST carcinogenesis and malignant progression.
    Journal • Microsatellite instability
    |
    HER-2 (Human epidermal growth factor receptor 2) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MSI (Microsatellite instability) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha)
    |
    PIK3CA mutation • HER-2 mutation • KIT exon 11 mutation • PDGFRA mutation • PIK3CA exon 9 mutation + HR positive
    |
    imatinib
    over4years
    [VIRTUAL] Primary and secondary resistance mechanisms in first, second and third generation tyrosine kinase inhibitors in EGFR mutant non-small cell lung cancer patients. (ASCO 2021)
    Primary and secondary acquired resistance is unavoidable in EGFR mutant advanced NSCLC on any generation of TKIs . NGS offers an advantage in diagnosing mechanism of resistance for further choice of therapy.
    Clinical
    |
    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) • MET (MET proto-oncogene, receptor tyrosine kinase) • CTNNB1 (Catenin (cadherin-associated protein), beta 1)
    |
    TP53 mutation • KRAS mutation • EGFR mutation • KRAS G12C • BRAF mutation • PIK3CA mutation • EGFR L858R • EGFR exon 19 deletion • MET amplification • EGFR T790M • EGFR amplification • EGFR exon 20 insertion • PIK3CA H1047R • KRAS G12V • EGFR C797S • EGFR exon 19 mutation • MET mutation • EGFR exon 19 deletion + EGFR T790M • KRAS G12 • PIK3CA E542K • ALK translocation • EGFR exon 20 mutation • KRAS G13 • BRAF G469A • PIK3CA E542 • KRAS G13C • PIK3CA exon 9 mutation + HR positive • EGFR E709A • TP53 R213
    |
    Oncomine Focus Assay
    over4years
    The Spectrum, Tendency and Predictive Value of PIK3CA Mutation in Chinese Colorectal Cancer Patients. (PubMed, Front Oncol)
    We found that PIK3CA mutation was an adverse predictive marker for the overall survival of stage IV patients and recurrence of stage III patients, respectively. Further more, we suggested that PIK3CA exon 9 mutations are not negative predictors of cetuximab treatment in KRAS, NRAS, and BRAF wild-type mCRC patients.
    Clinical • Journal
    |
    KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog)
    |
    KRAS mutation • PIK3CA mutation • PIK3CA exon 9 mutation + HR positive
    |
    Erbitux (cetuximab)
    over4years
    PIK3CA mutation detected by liquid biopsy in patients with metastatic breast cancer. (PubMed, J Nippon Med Sch)
    PIK3CA mutations can be detected using liquid biopsy even in patients with no PIK3CA mutations in their primary tumors; thus, combination analysis using tissue and liquid biopsies can provide clinically useful information for patients with breast cancer.
    Clinical • Journal • Liquid biopsy
    |
    PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
    |
    PIK3CA mutation • PIK3CA H1047R • PIK3CA E545K • PIK3CA E545 • PIK3CA E542 • PIK3CA H1047L • PIK3CA exon 9 mutation + HR positive
    over4years
    [VIRTUAL] PIK3CA exon 9 and 20 mutations in early luminal breast cancer. Case series and review of the literature. (ESMO-BC 2021)
     PIK3CA mutations are common in luminal breast cancer. These changes also occur among treatment naive patients. The role of such alterations in the natural history of the disease and its role on primary resistance to endocrine therapy remains to be determined.
    Clinical • Review
    |
    PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
    |
    PIK3CA mutation • PIK3CA H1047R • PIK3CA exon 9 mutation + HR positive
    almost5years
    Divergent molecular profile of PIK3CA gene in arsenic-associated bladder carcinoma. (PubMed, Mutagenesis)
    Finally, AsH patients with the overexpression of PIK3CA or NFκB had the worst overall survival, signifying a strong impact of arsenic on this pathway and outcome of the patients. Thus, our study showed that the arsenic-associated differential molecular profile of PIK3CA/AKT1/NFkB in BlCa has an important role in the molecular pathogenesis of the disease.
    Journal
    |
    PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • NFKB1 (Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1)
    |
    PIK3CA mutation • PIK3CA E545K • PIK3CA E545 • PIK3CA E542 • PIK3CA exon 9 mutation + HR positive • PIK3CA overexpression