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    BIOMARKER:

    AKT1 mutation

    i
    Other names: AKT1, AKT, PKB, PRKBA, RAC, V-akt murine thymoma viral oncogene homolog 1
    Entrez ID:
    207
    Related biomarkers:
    Expression
    Mutation
    CNA
    Others
    18d
    Multiple Pulmonary Sclerosing Pneumocytomas (PSPs): A Comprehensive Analysis of Clinicopathological Characteristics and Whole-exome Sequencing (WES) Results. (PubMed, Am J Surg Pathol)
    In conclusion, this retrospective study is the largest series of multiple PSP cases and provides new insights into the genomic underpinning of PSP. This work has a potential to broaden our understanding of the pathogenesis and development of these lesions and warrants analysis in larger cohorts.
    Journal
    |
    ARID1A (AT-rich interaction domain 1A) • AKT1 (V-akt murine thymoma viral oncogene homolog 1)
    |
    ARID1A mutation • AKT1 mutation
    21d
    Higher risk of recurrence in early-stage breast cancer patients with increased levels of ribosomal protein S6. (PubMed, Sci Rep)
    When assessed in combination with lymph node status, the predictive capacity was higher compared to both univariate models individually. In conclusion, pS6 could represent a novel independent marker for predicting recurrence risk in luminal breast cancer.
    Observational data • Retrospective data • Journal
    |
    HER-2 (Human epidermal growth factor receptor 2) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • RPS6 (Ribosomal Protein S6)
    |
    HER-2 positive • HR positive • HER-2 negative • PIK3CA mutation • AKT1 mutation • HR positive + HER-2 negative • PTEN mutation + HR positive • HER-2 negative + HR positive + AKT1 mutation
    27d
    The landscape of genomic alterations and their phenotype associations in high-risk localized prostate cancer in the Genomic Umbrella Neoadjuvant Study (PCF 2024)
    Transcriptomes distinguished ETS -fused tumors from SPOP mutants, and PTEN loss from PTEN/AKT1 mutations. Inferred relationships between specific genomic alterations and gene expression signatures of luminal/basal subtypes and of biological pathways/processes, including AR signaling, proliferation, and plasticity signatures, provide a basis to understand differences in treatment response and inform biomarker-guided treatment strategies.
    Clinical • BRCA Biomarker
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    TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • PTEN (Phosphatase and tensin homolog) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • CDK12 (Cyclin dependent kinase 12) • ERG (ETS Transcription Factor ERG) • SPOP (Speckle Type BTB/POZ Protein) • FOXA1 (Forkhead Box A1) • TMPRSS2 (Transmembrane serine protease 2)
    |
    CDK12 mutation • AKT1 mutation • AR expression • SPOP mutation • TMPRSS2-ERG fusion • FOXA1 mutation
    |
    Prosigna™ Breast Cancer Prognostic Gene Signature Assay
    2ms
    Novel Mutations in AKT1 Gene in Prostate Cancer Patients in Jordan. (PubMed, Curr Issues Mol Biol)
    It is concluded that there is a high frequency of AKT1 mutation in PC patients in Jordan with two novel missense mutations in the Pleckstrin homology (PH) domain. E17K hotspot mutation was not detected in any tested samples, which underlined the significant role of mutations in other AKT1 exons in PC development.
    Journal
    |
    AKT1 (V-akt murine thymoma viral oncogene homolog 1)
    |
    AKT1 mutation
    2ms
    A071401: Vismodegib, FAK Inhibitor GSK2256098, Capivasertib, and Abemaciclib in Treating Patients with Progressive Meningiomas (clinicaltrials.gov)
    P2, N=124, Recruiting, Alliance for Clinical Trials in Oncology | Trial completion date: Oct 2024 --> Jan 2028 | Trial primary completion date: Oct 2024 --> Jan 2026
    Trial completion date • Trial primary completion date
    |
    PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • CCND1 (Cyclin D1) • CCNE1 (Cyclin E1) • PTCH1 (Patched 1) • CDK4 (Cyclin-dependent kinase 4) • NF2 (Neurofibromin 2) • SMO (Smoothened Frizzled Class Receptor) • CDK6 (Cyclin-dependent kinase 6) • CCND2 (Cyclin D2) • CCND3 (Cyclin D3)
    |
    PIK3CA mutation • PTEN mutation • CDKN2A mutation • PTCH1 mutation • NF2 mutation • AKT1 mutation • SMO mutation • PIK3CA mutation + PTEN mutation • CDK4 mutation
    |
    Verzenio (abemaciclib) • Truqap (capivasertib) • Erivedge (vismodegib) • GSK2256098
    4ms
    Characterizing the genomic landscape of breast cancer in an Irish cohort of patients (ESMO 2024)
    We present the largest study of BC variant frequencies in a cohort of Irish breast cancer patients to date and confirm NGS is feasible and identifies clinically relevant and actionable variants. We confirm that the frequency of PIK3CA alterations, in addition to codon specificity, are comparable to those observed in European and US cohorts and demonstrate that the detection of clinically relevant biomarkers is not confined to ER positive HER2 negative BC. The tissue failure rate (19%) underscores the need for cfDNA testing to identify the expanding range of actionable targets in BC to improve access to emerging targeted therapies and biomarker-driven clinical trials.
    Clinical • BRCA Biomarker
    |
    HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • AKT1 (V-akt murine thymoma viral oncogene homolog 1)
    |
    HER-2 positive • ER positive • HER-2 amplification • HER-2 negative • PIK3CA mutation • HER-2 S310F • ESR1 mutation • AKT1 mutation • HER-2 D769Y • HER-2 L869R • ER positive + HER-2 negative • HER-2 negative + ER positive • HER-2 negative + ER positive + ESR1 mutation
    |
    Oncomine Focus Assay
    7ms
    Correlation of Molecular Status with Preoperative Olfactory Function in Olfactory Groove Meningioma. (PubMed, Cancers (Basel))
    The study highlights PSH and perifocal oedema's significant effect on olfactory function in OGM patients but finds no link between olfactory impairment and tumour mutations, possibly due to the small sample size. This suggests that age and gender affect olfactory impairment. Additional research with a larger group of participants is needed to explore the impact of OGM driver mutations on olfactory performance.
    Journal
    |
    AKT1 (V-akt murine thymoma viral oncogene homolog 1) • SMO (Smoothened Frizzled Class Receptor)
    |
    AKT1 mutation • SMO mutation
    7ms
    Meningioma: current updates on genetics, classification, and mouse modeling. (PubMed, Ups J Med Sci)
    Most meningioma mouse models are based on patient-derived xenografts and only recently have new genetically engineered mouse models of meningioma been developed that will aid in the systematic evaluation of specific mutations found in meningioma and their impact on tumor behavior. In this article, we review recent advances in the understanding of meningioma biology and classification and highlight the most common genetic mutations, as well as discuss new genetically engineered mouse models of meningioma.
    Preclinical • Review • Journal
    |
    AKT1 (V-akt murine thymoma viral oncogene homolog 1) • NF2 (Neurofibromin 2) • KLF4 (Kruppel-like factor 4)
    |
    AKT1 mutation
    7ms
    The prognosis of patients treated with everolimus for advanced ER-positive, HER2-negative breast cancer is driven by molecular features. (PubMed, J Pathol Clin Res)
    Overall survival was longer in patients with pS6 ≥ 3rd quartile (27.6 versus 19.3 months, p = 0.038) and in patients with any mutation in the PIK3CA/AKT/mTOR pathway (27.6 versus 19.3 months, p = 0.011). The prognosis of patients treated with everolimus for advanced ER-positive, HER2-negative breast cancer appears primarily driven by molecular features associated with the activation of the PIK3CA/AKT/mTOR pathway.
    Journal • Metastases
    |
    HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • INPP4B (Inositol polyphosphate-4-phosphatase type II B) • EIF4EBP1 (Eukaryotic translation initiation factor 4E binding protein 1)
    |
    ER positive • HER-2 negative • PIK3CA mutation • PTEN expression • AKT1 mutation • MTOR mutation
    |
    everolimus
    8ms
    Capivasertib: A Novel AKT Inhibitor Approved for Hormone-Receptor-Positive, HER-2-Negative Metastatic Breast Cancer. (PubMed, Ann Pharmacother)
    In the phase III CAPItello-291 trial, capivasertib in combination with fulvestrant (C+F) demonstrated improved progression-free survival (PFS) (7.3 vs 3.1 months) compared with placebo-fulvestrant (P+F) cohort in AKT-altered pathway patients who had progressed through prior aromatase inhibitor. Capivasertib is a viable treatment option for patients with PIK3CA/AKT1/PTEN activating mutations following progression on endocrine-based regimens in the metastatic setting or recurrence within 12 months of completing adjuvant therapy. Integration of capivasertib into clinical practice is ongoing; intermittent dosing and favorable toxicity are attractive for future novel combination prospective trials.
    Review • Journal • Metastases
    |
    HER-2 (Human epidermal growth factor receptor 2) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • AKT2 (V-akt murine thymoma viral oncogene homolog 2)
    |
    HR positive • HER-2 negative • PIK3CA mutation • PTEN mutation • AKT1 mutation • HR positive + HER-2 negative • PTEN mutation + HR positive
    |
    fulvestrant • Truqap (capivasertib)
    8ms
    The frequency of NRAS mutation in stool samples of Iranian colorectal cancers compared to Finnish patients. (PubMed, J Res Med Sci)
    Mutations in NRAS and FGFR3 were observed only in the Iranian cohort, while APC mutations were exclusive for the Finnish cohort. Genes involved in MAPK and PI3K-MAPK pathways showed a higher frequency of mutations in Iranian patients which may have therapeutic implications.
    Journal
    |
    KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • NRAS (Neuroblastoma RAS viral oncogene homolog) • FGFR3 (Fibroblast growth factor receptor 3) • FGFR1 (Fibroblast growth factor receptor 1) • STK11 (Serine/threonine kinase 11) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • SMAD4 (SMAD family member 4) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • APC (APC Regulator Of WNT Signaling Pathway) • ERBB4 (erb-b2 receptor tyrosine kinase 4)
    |
    TP53 mutation • KRAS mutation • BRAF mutation • NRAS mutation • STK11 mutation • KIT mutation • APC mutation • AKT1 mutation
    8ms
    Landscape of PIK3CA, PTEN, and AKT1 alterations in advanced breast cancer (ABC) using circulating tumor DNA (ctDNA): Next generation sequencing (NGS) in Asia and the Middle East (AME) (ESMO-BC 2024)
    Conclusions To our knowledge, this is the first AME-specific dataset illustrating that ctDNA NGS can identify PIK3CAm, PTENm, AKT1m, and co-alterations that may inform therapeutic decisions for patients with ABC. Our results indicate a similar prevalence of these mutations in AME and other regions.
    MSi-H Biomarker • Next-generation sequencing • Circulating tumor DNA • Metastases
    |
    ER (Estrogen receptor) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MSI (Microsatellite instability) • PTEN (Phosphatase and tensin homolog) • NF1 (Neurofibromin 1) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • GATA1 (GATA Binding Protein 1)
    |
    TP53 mutation • MSI-H/dMMR • PIK3CA mutation • PTEN mutation • AKT1 mutation • PIK3CA E545
    |
    Guardant360® CDx
    8ms
    SYNERGY-AI: Artificial Intelligence Based Precision Oncology Clinical Trial Matching and Registry (clinicaltrials.gov)
    P=N/A, N=50000, Recruiting, Massive Bio, Inc. | Trial completion date: Jun 2025 --> Jun 2027 | Trial primary completion date: Dec 2024 --> Dec 2026
    Trial completion date • Trial primary completion date
    |
    EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • ER (Estrogen receptor) • ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • FLT3 (Fms-related tyrosine kinase 3) • ABL1 (ABL proto-oncogene 1) • NRAS (Neuroblastoma RAS viral oncogene homolog) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • FGFR2 (Fibroblast growth factor receptor 2) • PTEN (Phosphatase and tensin homolog) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • BCL2 (B-cell CLL/lymphoma 2) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • STK11 (Serine/threonine kinase 11) • NPM1 (Nucleophosmin 1) • HRAS (Harvey rat sarcoma viral oncogene homolog) • DNMT3A (DNA methyltransferase 1) • ERBB3 (V-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3) • RB1 (RB Transcriptional Corepressor 1) • CLDN18 (Claudin 18) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NF1 (Neurofibromin 1) • JAK2 (Janus kinase 2) • NRG1 (Neuregulin 1) • POLE (DNA Polymerase Epsilon) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • PD-1 (Programmed cell death 1) • CCND1 (Cyclin D1) • MCL1 (Myeloid cell leukemia 1) • KDR (Kinase insert domain receptor) • PBRM1 (Polybromo 1) • BAP1 (BRCA1 Associated Protein 1) • VEGFA (Vascular endothelial growth factor A) • BCL6 (B-cell CLL/lymphoma 6) • PDGFRB (Platelet Derived Growth Factor Receptor Beta) • PTCH1 (Patched 1) • FGFR4 (Fibroblast growth factor receptor 4) • MSH6 (MutS homolog 6) • CDK4 (Cyclin-dependent kinase 4) • MSH2 (MutS Homolog 2) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • MAP2K2 (Mitogen-activated protein kinase kinase 2) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • WT1 (WT1 Transcription Factor) • ATRX (ATRX Chromatin Remodeler) • BRCA (Breast cancer early onset) • RAF1 (Raf-1 Proto-Oncogene Serine/Threonine Kinase) • TSC2 (TSC complex subunit 2) • CHEK2 (Checkpoint kinase 2) • PD-L2 (Programmed Cell Death 1 Ligand 2) • ERBB4 (erb-b2 receptor tyrosine kinase 4) • JAK1 (Janus Kinase 1) • FANCA (FA Complementation Group A) • TSC1 (TSC complex subunit 1) • MDM4 (The mouse double minute 4) • POLD1 (DNA Polymerase Delta 1) • CDK6 (Cyclin-dependent kinase 6) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • PARP1 (Poly(ADP-Ribose) Polymerase 1) • AURKA (Aurora kinase A) • JAK3 (Janus Kinase 3) • RICTOR (RPTOR Independent Companion Of MTOR Complex 2) • CHEK1 (Checkpoint kinase 1) • GATA6 (GATA Binding Protein 6) • MSH3 (MutS Homolog 3) • TGFBR2 (Transforming Growth Factor Beta Receptor 2) • GNAS (GNAS Complex Locus) • MYCL (MYCL Proto-Oncogene BHLH Transcription Factor) • AKT2 (V-akt murine thymoma viral oncogene homolog 2) • CCND2 (Cyclin D2) • CCND3 (Cyclin D3) • CSF1R (Colony stimulating factor 1 receptor) • MAP3K1 (Mitogen-Activated Protein Kinase Kinase Kinase 1) • ERCC4 (ERCC Excision Repair 4, Endonuclease Catalytic Subunit) • HDAC1 (Histone Deacetylase 1) • PRDM1 (PR/SET Domain 1) • ZNF217 (Zinc Finger Protein 217) • CDKN1A (Cyclin-dependent kinase inhibitor 1A) • GATA3 (GATA binding protein 3) • PARP2 (Poly(ADP-Ribose) Polymerase 2) • PARP3 (Poly(ADP-Ribose) Polymerase Family Member 3) • SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A) • ACVR1B (Activin A Receptor Type 1B) • ZNF703 (Zinc Finger Protein 703)
    |
    HER-2 mutation • BAP1 mutation • AKT1 mutation • FGFR3 fusion • JAK3 mutation
    8ms
    Comprehensive molecular and immune profiling of triple negative invasive lobular carcinoma (AACR 2024)
    These data suggest that TN-ILC had higher frequency of CDH1, ERBB2, AKT1, ARID1A mutations, higher M2 macrophages and neutrophils and lower M1 macrophages and CD8 T cells infiltration and, lower T cell inflamed signature. High TMB and AR expression can translate into use of immunotherapy (ICI) and AR antagonists in these patients. Additonal analysis to determine the optimal biomarker for ICI response in TN-ILC is needed.
    Tumor mutational burden • PD(L)-1 Biomarker • MSi-H Biomarker • IO biomarker
    |
    HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • BCL2 (B-cell CLL/lymphoma 2) • ARID1A (AT-rich interaction domain 1A) • CD8 (cluster of differentiation 8) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • MCL1 (Myeloid cell leukemia 1) • LAG3 (Lymphocyte Activating 3) • KMT2C (Lysine Methyltransferase 2C) • CDH1 (Cadherin 1) • BCL2A1 (BCL2 Related Protein A1) • FOXP3 (Forkhead Box P3) • PMAIP1 (Phorbol-12-Myristate-13-Acetate-Induced Protein 1) • BCL2L10 (BCL2 like 10) • BAK1 (BCL2 Antagonist/Killer 1)
    |
    PD-L1 expression • ER positive • TMB-H • MSI-H/dMMR • HER-2 mutation • ARID1A mutation • BCL2 expression • AKT1 mutation • AR expression
    |
    PD-L1 IHC 22C3 pharmDx • VENTANA PD-L1 (SP142) Assay
    9ms
    Genomic Variability Within Intrinsic Subtypes of Advanced Breast Cancer (USCAP 2024)
    There is a great genomic variability in each intrinsic subtype of advanced BC, with apparently no genomic pattern correlating with each phenotype. Although a transcriptomic test (Prosigna) can help in the classification of the tumors, NGS sequencing with an extended panel allows identifying genetic variants that might benefit the patient with a targeted therapy i a significant percentage of cases.
    BRCA Biomarker • 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) • PGR (Progesterone receptor) • BRCA2 (Breast cancer 2, early onset) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • PTEN (Phosphatase and tensin homolog) • FGFR1 (Fibroblast growth factor receptor 1) • RB1 (RB Transcriptional Corepressor 1) • NF1 (Neurofibromin 1) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • SF3B1 (Splicing Factor 3b Subunit 1) • CCND1 (Cyclin D1) • FGF19 (Fibroblast growth factor 19) • FGF3 (Fibroblast growth factor 3)
    |
    HER-2 negative • PTEN mutation • MYC amplification • CCND1 amplification • AKT1 mutation • TP53 amplification
    |
    Prosigna™ Breast Cancer Prognostic Gene Signature Assay
    9ms
    BMPR1A G298D Point Mutation is a Recurrent Genomic Event in a Subset of Presumably Sex Cord-Stromal Tumors with Ambiguous Features Between Adult and Juvenile Granulosa Cell Tumors (USCAP 2024)
    BMPR1A G298D mutation was exclusively identified in a subset of driverless neoplasms which were classified as granulosa cell tumors (3/27=11%). For BMPR1A-mutant tumors, the overall absence of any detectable known driver mutations supports our hypothesis that this alteration could be an alternative rare tumorigenic mechanism.
    Clinical • Stroma
    |
    AKT1 (V-akt murine thymoma viral oncogene homolog 1) • GNAS (GNAS Complex Locus) • DICER1 (Dicer 1 Ribonuclease III) • BMPR1A (Bone Morphogenetic Protein Receptor Type 1A) • FOXL2 (Forkhead Box L2)
    |
    AKT1 mutation • GNAS mutation
    |
    FoundationOne® CDx
    9ms
    A gain of function mutation in AKT1 increases hexokinase 2 and diminishes oxidative stress in meningioma. (PubMed, Cytokine)
    Treatment with the conventional drug of choice AZD5363 (a pan AKT inhibitor) enhanced cell death and diminished HK2 levels in AKT1 mutants...By affecting metabolism, inflammation, and redox homeostasis AKT1-E17K confers a survival advantage in meningioma cells. Our findings suggest that targeting AKT-HK2 cross-talk to induce ROS-dependent cell death could be exploited as novel therapeutic approach in meningiomas.
    Journal
    |
    AKT1 (V-akt murine thymoma viral oncogene homolog 1) • IL6 (Interleukin 6) • CXCL8 (Chemokine (C-X-C motif) ligand 8) • TLR4 (Toll Like Receptor 4) • HK2 (Hexokinase 2) • IL1B (Interleukin 1, beta) • SOD1 (Superoxide Dismutase 1)
    |
    AKT1 E17K • AKT1 mutation
    |
    Truqap (capivasertib)
    10ms
    Single-cell RNA sequencing reveals the mechanism of PI3K/AKT/mTOR signaling pathway activation in lung adenocarcinoma by KRAS mutation. (PubMed, J Gene Med)
    The present study provides a basic theory for the activation of the PI3K/AKT/mTOR signaling pathway as a result of KRAS mutations.
    Journal
    |
    KRAS (KRAS proto-oncogene GTPase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PDPK1 (3-Phosphoinositide dependent protein kinase 1)
    |
    KRAS mutation • PIK3CA mutation • KRAS wild-type • RAS wild-type • AKT1 mutation • KRAS expression
    |
    Ibrance (palbociclib)
    10ms
    Genetic characterization and mutational profiling of foramen magnum meningiomas: a multi-institutional study. (PubMed, J Neurosurg)
    These findings provide important insights into the molecular genetics and clinicopathological characteristics of FM meningiomas. The identification of specific genetic alterations associated with tumor location, volume, calcification, histology, and sex at diagnosis may have implications for personalized treatment strategies in the future.
    Clinical • Journal
    |
    PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • NF2 (Neurofibromin 2) • KLF4 (Kruppel-like factor 4)
    |
    PIK3CA mutation • PIK3CA H1047R • PIK3CA E545K • AKT1 E17K • NF2 mutation • AKT1 mutation • PIK3CA E545 • KLF4 K409Q
    10ms
    Genetic Polymorphisms and Tumoral Mutational Profiles over Survival in Advanced Colorectal Cancer Patients: An Exploratory Study. (PubMed, Curr Oncol)
    Additionally, findings from the genomics of drug sensitivity (GDSC) project demonstrated that cell lines with wild-type BRAF have higher IC50 values for 5-FU compared to BRAF-mutated cell lines. In conclusion, the genetic polymorphisms DPYDrs1801265, ABCB1rs1045642, and MTHFRrs180113 may serve as useful biomarkers for predicting a poor prognosis in patients undergoing 5-fluorouracil chemotherapy, regardless of oncogene mutations.
    Retrospective data • Journal • Metastases
    |
    KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • ABCB1 (ATP Binding Cassette Subfamily B Member 1) • MTHFR (Methylenetetrahydrofolate Reductase) • DPYD (Dihydropyrimidine Dehydrogenase)
    |
    KRAS mutation • BRAF mutation • NRAS mutation • BRAF wild-type • AKT1 mutation
    |
    5-fluorouracil • leucovorin calcium
    10ms
    Allosteric PI3K-alpha inhibition overcomes on-target resistance to orthosteric inhibitors mediated by secondary PIK3CA mutations (YIR 2024)
    Background: PIK3CA mutations occur in ~40% of HR-positive breast cancers, where alpelisib, an orthosteric PI3Kα inhibitor, is FDA-approved in combination with fulvestrant... To identify on-target and off-target alterations potentially mediating resistance to PI3Kα inhibitors, we used a targeted next-generation sequencing assay (Guardant360; Guardant Health) to analyze ctDNA in serially collected plasma samples from 32 patients with PIK3CA-mutated advanced HR-positive, HER2-negative breast cancer treated with alpelisib and inavolisib...Some mutations had differential effects on PI3Kaselective vs. pan-PI3K inhibitors, but resistance induced by all mutations could be overcome by the novel allosteric pan-mutant-selective PI3Ka-inhibitor RLY-2608... In one of the largest patient cohorts analyzed to date, this study defines the clinical landscape of acquired resistance to PI3Ka inhibitors. Genomic alterations within the PI3K pathway represent a major mode of resistance and identify a novel class of secondary PIK3CA resistance mutations that can be overcome by an allosteric PI3Ka inhibitor. Together, these findings provide insights to guide strategies to overcome resistance in PIK3CA-mutated cancers.
    HER-2 (Human epidermal growth factor receptor 2) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog)
    |
    HR positive • HER-2 negative • PIK3CA mutation • PIK3CA H1047R • PIK3CA E545K • AKT1 mutation • PIK3CA E545 • PTEN mutation + HR positive
    |
    Guardant360® CDx
    |
    Piqray (alpelisib) • fulvestrant • RLY-2608 • Itovebi (inavolisib)
    10ms
    Safety, Tolerability & Potential Anti-cancer Activity of Increasing Doses of AZD5363 in Different Treatment Schedules (clinicaltrials.gov)
    P1, N=285, Active, not recruiting, AstraZeneca | Trial completion date: Dec 2023 --> Dec 2024
    Trial completion date • Metastases
    |
    HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog)
    |
    ER positive • PIK3CA mutation • PTEN mutation • AKT1 mutation
    |
    fulvestrant • Truqap (capivasertib)
    10ms
    Incongruity between T cell receptor recognition of breast cancer hotspot mutations ESR1 Y537S and D538G following exogenous peptide loading versus endogenous antigen processing. (PubMed, Cytotherapy)
    To investigate the basis of this lack of recognition we performed immunopeptidomics analysis of a mutant-overexpressing lymphoblastoid cell line and found that the ESR1 Y537S neopeptide was not endogenously processed, despite binding to HLA-B*40:02 when exogenously pulsed onto the target cell. These results indicate that stimulation of T cells that likely derive from the naïve repertoire with pulsed minimal peptides may lead to the expansion of clones that recognize non-processed peptides, and highlights the importance of using methods that selectively expand T cells with specificity for antigens that are efficiently processed and presented.
    Journal • IO biomarker
    |
    ER (Estrogen receptor) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • IFNG (Interferon, gamma) • HLA-B (Major Histocompatibility Complex, Class I, B) • HLA-C (Major Histocompatibility Complex, Class I, C)
    |
    TP53 mutation • PIK3CA mutation • ER mutation • ER Y537S • ER D538G • ESR1 mutation • AKT1 mutation
    10ms
    p4EBP1 staining predicts outcome in ER-positive endocrine-resistant metastatic breast cancer patients treated with everolimus and exemestane. (PubMed, Br J Cancer)
    This study identified a subset of patients with hormone receptor-positive endocrine-resistant metastatic breast cancer and poor outcome who would derive less benefit from everolimus and exemestane. p4EBP1 may be a useful predictive biomarker in routine clinical practice.
    Journal • Metastases
    |
    ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • EIF4EBP1 (Eukaryotic translation initiation factor 4E binding protein 1)
    |
    ER positive • HR positive • PIK3CA mutation • PTEN mutation • AKT1 mutation
    |
    everolimus • exemestane
    11ms
    Integrated Molecular Characterization of HER2-Low Breast Cancer Using Next Generation Sequencing (NGS). (PubMed, Biomedicines)
    One case of MSI was detected in a HER2-negative and ISH unamplified case. Beside IHC, NGS allows the identification of HER2-low subtype simultaneously, with the detection of multiple actionable gene mutations being helpful for molecular board treatment selection.
    Journal • Next-generation sequencing • BRCA Biomarker
    |
    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) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • AKT1 (V-akt murine thymoma viral oncogene homolog 1)
    |
    TP53 mutation • BRCA1 mutation • HER-2 amplification • HER-2 negative • PIK3CA mutation • AKT1 mutation
    12ms
    Colloid Pattern of Salivary Mucinous Adenocarcinomas With Recurrent BRAF V600E Mutations. (PubMed, Am J Surg Pathol)
    Typical morphologic structures, CK7(+), CK20(-), CDX2(-), p63(-), p40(-), MAML2 fluorescence in situ hybridization (-), AR(-), TTF-1(-), S100(-), mammaglobin(-), or S100/mammaglobin(+) with ETV6 fluorescence in situ hybridization (-) immunophenotype, and recurrent AKT1 E17K or BRAF V600E mutations may be defined. To our knowledge, this small series represents the first genetic study on a typical colloid pattern of MA, and our study with the spectrum documentation for MA in clinicopathologic characteristics, histologic and immunophenotypes, molecular features, and clinical behavior will allow for a better understanding of these rare but distinctive tumors.
    Journal
    |
    BRAF (B-raf proto-oncogene) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • ETV6 (ETS Variant Transcription Factor 6) • NKX2-1 (NK2 Homeobox 1) • CDX2 (Caudal Type Homeobox 2) • TP63 (Tumor protein 63) • MAML2 (Mastermind Like Transcriptional Coactivator 2)
    |
    BRAF V600E • BRAF V600 • AKT1 E17K • AKT1 mutation
    12ms
    Negative hyperselection of elderly patients with RAS and BRAF wild-type metastatic colorectal cancer receiving initial panitumumab plus FOLFOX or 5-FU/LV. (PubMed, Eur J Cancer)
    Molecular hyperselection and comprehensive genomic profiling have a potential usefulness in elderly patients with RAS/BRAF wild-type, pMMR/MSS mCRC, eligible for upfront EGFR inhibition.
    Journal • Metastases
    |
    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) • MET (MET proto-oncogene, receptor tyrosine kinase) • PTEN (Phosphatase and tensin homolog) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • MAP2K1 (Mitogen-activated protein kinase kinase 1) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • RAS (Rat Sarcoma Virus) • NTRK (Neurotrophic receptor tyrosine kinase)
    |
    HER-2 amplification • PIK3CA mutation • MET amplification • PTEN mutation • ALK rearrangement • BRAF wild-type • MET mutation • RET rearrangement • AKT1 mutation • PIK3CA mutation + PTEN mutation • ALK rearrangement + PIK3CA mutation
    |
    5-fluorouracil • Vectibix (panitumumab) • leucovorin calcium
    almost1year
    Clinical and genomic landscape of FGFR3-altered urothelial carcinoma and treatment outcomes with erdafitinib: a real-world experience. (PubMed, Clin Cancer Res)
    FGFR3 mutations are common in urothelial carcinoma, whereas FGFR2 alterations are rare. Discordance of FGFR3 mutational status between primary and metastatic tumors occurs frequently and raises concern over sequencing archival primary tumors to guide patient selection for erdafitinib therapy. Erdafitinib responses were typically brief and dosing was limited by toxicity. FGFR3, AKT1, and TP53 mutations detected in cfDNA represent putative mechanisms of acquired erdafitinib resistance.
    Journal • Real-world evidence • Real-world
    |
    TP53 (Tumor protein P53) • FGFR2 (Fibroblast growth factor receptor 2) • FGFR3 (Fibroblast growth factor receptor 3) • AKT1 (V-akt murine thymoma viral oncogene homolog 1)
    |
    TP53 mutation • FGFR2 mutation • FGFR2 fusion • FGFR3 mutation • AKT1 mutation • FGFR3 fusion
    |
    Balversa (erdafitinib)
    1year
    Genetic Characterization and Mutational Profiling of Foramen Magnum Meningiomas: A Multi-Institutional Study (SNO 2023)
    Our findings provide important insights into the molecular genetics and clinicopathological characteristics of FM meningiomas. The identification of specific genetic alterations associated with tumor location, calcification, histology, and sex at diagnosis may have implications for personalized treatment strategies in the future.
    Clinical
    |
    PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • NF2 (Neurofibromin 2) • KLF4 (Kruppel-like factor 4)
    |
    PIK3CA mutation • AKT1 E17K • NF2 mutation • AKT1 mutation
    1year
    Allosteric PI3K-alpha inhibition overcomes on-target resistance to orthosteric inhibitors mediated by secondary PIK3CA mutations. (PubMed, Cancer Discov)
    PIK3CA mutations occur in ~8% of cancers, including ~40% of HR-positive breast cancers, where the PI3K-alpha (PI3Ka)-selective inhibitor alpelisib is FDA-approved in combination with fulvestrant. Some mutations had differential effects on PI3Ka-selective vs. pan-PI3K inhibitors, but resistance induced by all mutations could be overcome by the novel allosteric pan-mutant-selective PI3Ka-inhibitor RLY-2608. Together, these findings provide insights to guide strategies to overcome resistance in PIK3CA-mutated cancers.
    Journal
    |
    PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog)
    |
    HR positive • PIK3CA mutation • AKT1 mutation
    |
    Piqray (alpelisib) • fulvestrant • RLY-2608
    1year
    Differential dynamics of fragmentomic and epigenetic circulating tumor DNA (ctDNA) features in first-line Palbociclib and Ribociclib treatment for Hormone Receptor (HR) positive, HER2 negative metastatic breast cancer (MBC) (SABCS 2023)
    However, the lack of prospective cohorts comparing the distinctions among palbociclib (PAL), ribociclib (RIB) and abemaciclib (ABE) poses a significant clinical knowledge gap. Out of the 114 pts enrolled, 59 received PAL, 48 RIB, and 16 ABE. In the de novo subgroup, 51.4 % of pts were treated with PAL, 42.9% with RIB, and 5.7% with ABE. Among the pts who received PAL, 7 harbored an ESR1 mutation at BL (D538G: 2, H377R: 1, Y537N: 1, Y537S: 3).
    Clinical • Circulating tumor DNA • Metastases
    |
    HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • CDK4 (Cyclin-dependent kinase 4)
    |
    HR positive • HER-2 negative • PIK3CA mutation • ER mutation • ER Y537S • ER D538G • ESR1 mutation • AKT1 mutation • ER Y537N • PTEN mutation + HR positive
    |
    Ibrance (palbociclib) • Verzenio (abemaciclib) • Kisqali (ribociclib)
    1year
    Molecular and immunological landscape of sex-based differences in breast cancer: a distinct disease in men. (SABCS 2023)
    These data indicate that MaBC has a differential mutational frequency, copy number alteration, immune gene expression and immune cell infiltration and overall survival compared to their FeBC counterparts. A better understanding of these sex-based differences with additional research may help inform disease outcomes, provide a rationale for tailored therapeutic approaches and design future treatments. Table 1.
    Tumor mutational burden • BRCA Biomarker • MSi-H Biomarker
    |
    HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • STK11 (Serine/threonine kinase 11) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • ASXL1 (ASXL Transcriptional Regulator 1) • BCL6 (B-cell CLL/lymphoma 6) • KMT2D (Lysine Methyltransferase 2D) • RARA (Retinoic Acid Receptor Alpha) • WT1 (WT1 Transcription Factor) • FGF3 (Fibroblast growth factor 3) • CHEK2 (Checkpoint kinase 2) • CREBBP (CREB binding protein) • RAD51B (RAD51 Paralog B) • TSC1 (TSC complex subunit 1) • HLA-DQB1 (Major Histocompatibility Complex, Class II, DQ Beta 1) • FOXA1 (Forkhead Box A1) • MRE11A (MRE11 homolog, double strand break repair nuclease) • CHD1 (Chromodomain Helicase DNA Binding Protein 1) • PPM1D (Protein Phosphatase Mg2+/Mn2+ Dependent 1D) • FLCN (Folliculin) • IL1A (Interleukin 1, alpha) • AMER1 (APC Membrane Recruitment Protein 1) • DAXX (Death-domain associated protein) • HLA-DQB2 (Major Histocompatibility Complex, Class II, DQ Beta 2)
    |
    TP53 mutation • MSI-H/dMMR • HER-2 negative • HER-2 mutation • STK11 mutation • ASXL1 mutation • ESR1 mutation • CREBBP mutation • AKT1 mutation • TSC1 mutation • MHC-II expression • FLCN mutation • RAD51 mutation
    1year
    Allosteric PI3K-alpha inhibition overcomes on-target resistance to orthosteric inhibitors mediated by secondary PIK3CA mutations (SABCS 2023)
    Background: PIK3CA mutations occur in ~40% of HR-positive breast cancers, where alpelisib, an orthosteric PI3Kα inhibitor, is FDA-approved in combination with fulvestrant... To identify on-target and off-target alterations potentially mediating resistance to PI3Kα inhibitors, we used a targeted next-generation sequencing assay (Guardant360; Guardant Health) to analyze ctDNA in serially collected plasma samples from 32 patients with PIK3CA-mutated advanced HR-positive, HER2-negative breast cancer treated with alpelisib and inavolisib...Some mutations had differential effects on PI3Ka-selective vs. pan-PI3K inhibitors, but resistance induced by all mutations could be overcome by the novel allosteric pan-mutant-selective PI3Ka-inhibitor RLY-2608... In one of the largest patient cohorts analyzed to date, this study defines the clinical landscape of acquired resistance to PI3Ka inhibitors. Genomic alterations within the PI3K pathway represent a major mode of resistance and identify a novel class of secondary PIK3CA resistance mutations that can be overcome by an allosteric PI3Ka inhibitor. Together, these findings provide insights to guide strategies to overcome resistance in PIK3CA-mutated cancers.
    HER-2 (Human epidermal growth factor receptor 2) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog)
    |
    HR positive • HER-2 negative • PIK3CA mutation • PIK3CA H1047R • PIK3CA E545K • AKT1 mutation • PIK3CA E545 • PTEN mutation + HR positive
    |
    Guardant360® CDx
    |
    Piqray (alpelisib) • fulvestrant • RLY-2608 • Itovebi (inavolisib)
    1year
    Comprehensive Genomic and Transcriptomic Analysis of Sclerosing Pneumocytoma. (PubMed, Mod Pathol)
    To the best of our knowledge, this is the first comprehensive investigation of the genomic and transcriptomic characteristics of sclerosing pneumocytoma. Results of the present study provide insights on the molecular attributes of sclerosing pneumocytoma and a basis for future studies of this enigmatic tumor.
    Journal
    |
    SOX9 (SRY-Box Transcription Factor 9)
    |
    AKT1 mutation • SOX9 expression
    1year
    Meningioma (PubMed, No Shinkei Geka)
    The amalgamation of molecular insights with clinical and histological parameters, alongside patient prognosis, holds significant utility in the management of patients with meningiomas. It is anticipated to pave the way for treatments founded on molecular-clinical associations.
    Journal
    |
    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • TERT (Telomerase Reverse Transcriptase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • NF2 (Neurofibromin 2) • SMO (Smoothened Frizzled Class Receptor) • KLF4 (Kruppel-like factor 4)
    |
    CDKN2A deletion • NF2 mutation • AKT1 mutation • TERT mutation • SMO mutation • TERT promoter mutation
    1year
    Classification and Molecular Diagnosis of Benign Brain Tumors (PubMed, No Shinkei Geka)
    Thus, TERT promoter mutation and homozygous deletion of CDKN2A/B should be evaluated to define grade 2 and 3 meningiomas. In mesenchymal tumors, the term "hemangiopericytoma" has been deleted from solitary fibrous tumors.
    Journal
    |
    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • TERT (Telomerase Reverse Transcriptase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • SMO (Smoothened Frizzled Class Receptor) • KLF4 (Kruppel-like factor 4) • HTRA1 (HtrA Serine Peptidase 1) • SH3PXD2A (SH3 And PX Domains 2A)
    |
    CDKN2A deletion • AKT1 mutation • TERT mutation • SMO mutation • TERT promoter mutation
    1year
    Whole Exome Analysis to Select Targeted Therapies for Patients with Metastatic Breast Cancer - A Feasibility Study. (PubMed, Geburtshilfe Frauenheilkd)
    Resulting treatment options were discussed in a tumor board and could be recommended in a small but relevant proportion of patients with metastatic breast cancer (7/18). Thus, this study is a valuable preliminary work for the establishment of a molecular tumor board within the German initiative "Center for Personalized Medicine" which aims to shorten time for analyses and optimize selection of targeted therapies.
    Journal • BRCA Biomarker • MSi-H Biomarker • Metastases
    |
    HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • PTEN (Phosphatase and tensin homolog) • AKT1 (V-akt murine thymoma viral oncogene homolog 1)
    |
    MSI-H/dMMR • PIK3CA mutation • HER-2 mutation • PTEN mutation • AKT1 mutation
    1year
    Study of Chemotherapy Plus Ipatasertib for People With Solid Tumors With AKT Mutations, A ComboMATCH Treatment Trial (clinicaltrials.gov)
    P2, N=33, Recruiting, National Cancer Institute (NCI) | Initiation date: Sep 2023 --> Dec 2023
    Trial initiation date • Metastases
    |
    AKT2 (V-akt murine thymoma viral oncogene homolog 2)
    |
    AKT1 mutation
    |
    paclitaxel • ipatasertib (RG7440)
    1year
    DNA Methylation Identifies Epigenetic Subtypes of Triple-Negative Breast Cancers with Distinct Clinicopathologic and Molecular Features. (PubMed, Mod Pathol)
    There were no differences in relation to stage, recurrence, and survival. In conclusion, DNA methylation profiling is a promising tool to classify TNBC patients into biologically relevant groups, which may result in better disease characterization and reveal potential targets for emerging therapies.
    Journal • BRCA Biomarker • Epigenetic controller
    |
    HER-2 (Human epidermal growth factor receptor 2) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • BRCA (Breast cancer early onset)
    |
    BRCA2 mutation • BRCA1 mutation • PIK3CA mutation • HER-2 expression • AKT1 mutation • BRCA mutation
    over1year
    Preliminary Experimental Study on Key Technologies for Early Screening of Gastric Cancer (clinicaltrials.gov)
    P=N/A, N=1100, Recruiting, Zhejiang Cancer Hospital
    New trial
    |
    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) • NRAS (Neuroblastoma RAS viral oncogene homolog) • FGFR2 (Fibroblast growth factor receptor 2) • PTEN (Phosphatase and tensin homolog) • HRAS (Harvey rat sarcoma viral oncogene homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • TOP2A (DNA topoisomerase 2-alpha) • IL6 (Interleukin 6) • RNF43 (Ring Finger Protein 43) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • MUC16 (Mucin 16, Cell Surface Associated) • GNAS (GNAS Complex Locus) • PPP2R1A (Protein Phosphatase 2 Scaffold Subunit Aalpha)
    |
    KRAS mutation • BRAF mutation • FGFR2 mutation • RNF43 mutation • AKT1 mutation
    over1year
    CICLADES: CIrCuLAting Dna ESr1 Gene Mutations Analysis (clinicaltrials.gov)
    P=N/A, N=146, Completed, Institut de Cancérologie de Lorraine | Active, not recruiting --> Completed
    Trial completion • Circulating tumor DNA • Metastases
    |
    HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • AKT1 (V-akt murine thymoma viral oncogene homolog 1)
    |
    ER positive • HER-2 negative • PIK3CA mutation • ER mutation • ESR1 mutation • AKT1 mutation • ER positive + HER-2 negative