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BIOMARKER:

NOTCH3 mutation

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Other names: NOTCH3, Notch Receptor 3, Notch 3, Neurogenic Locus Notch Homolog Protein 3, Notch (Drosophila) Homolog 3, Notch Homolog 3 (Drosophila), Notch Homolog 3, CADASIL1, CADASIL, CASIL, IMF2, LMNS
Entrez ID:
Related biomarkers:
23d
Molecular profiling using next generation sequencing with high purity enrichment of circulating tumor cells (AACR 2024)
Molecular analysis of CTCs is a challenge since CTCs are very rare in the blood and there are technical limitations in isolating CTCs with sufficient purity. In this study, we developed the process for NGS analysis on very low number of CTCs with high purity, isolated using CytoGen's Smart Biopsy™ system. Overall, these process could provide information for diagnosis and appropriate treatment of metastatic breast cancer along with the results of our ongoing clinical trials.
Circulating tumor cells • Next-generation sequencing • Tumor cell
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KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • NF2 (Neurofibromin 2) • NOTCH3 (Notch Receptor 3) • PTPRC (Protein Tyrosine Phosphatase Receptor Type C)
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TP53 mutation • KRAS mutation • BRAF mutation • NF2 mutation • NOTCH3 mutation
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Oncomine™ Pan-Cancer Cell-Free Assay • Oncomine™ Comprehensive Assay Plus
29d
The evolution of premalignant lesions in the upper aerodigestive tract (ETHNC 2024)
SPINK5, a known tumour suppressor gene in HNSCC, was already downregulated in low-grade dysplastic lesions, indicating an early deactivation in the evolution of the disease. Genomic alterations as well as aberrant immune gene expression can be observed early on in the evolution of tumours of the upper aerodigestive tract, highlighting the potential for targeting early mechanisms of disease progression.
TP53 (Tumor protein P53) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NOTCH1 (Notch 1) • NOTCH3 (Notch Receptor 3)
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TP53 mutation • CDKN2A negative • NOTCH3 mutation
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nCounter® PanCancer Immune Profiling Panel
2ms
Thymic-Epithelial-Cell-Dependent Microenvironment Influences Proliferation and Apoptosis of Leukemic Cells. (PubMed, Int J Mol Sci)
In support, we also detected metabolic changes as potential drivers of leukemic cell survival. Our studies could shed light on T-cell/stroma crosstalk to human leukemic cells and propose our culture system to test pharmacological treatment for T-ALL.
Journal
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NOTCH1 (Notch 1) • CXCR4 (Chemokine (C-X-C motif) receptor 4) • NOTCH3 (Notch Receptor 3) • CXCL12 (C-X-C Motif Chemokine Ligand 12)
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NOTCH1 mutation • NOTCH3 mutation • NOTCH3 overexpression
2ms
The genetic and immune features of salivary gland secretory carcinoma with high-grade transformation. (PubMed, Oral Dis)
Our findings reveal novel gene alterations involved in the progression of HGT in SCs. Most HGT SCs patients cannot benefit from PD-L1 blocking and may be approached with a distinct treatment strategy including the lymph node dissection and application of molecular target drugs in precision oncology.
Journal • PD(L)-1 Biomarker • IO biomarker
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RET (Ret Proto-Oncogene) • ARID1A (AT-rich interaction domain 1A) • NRG1 (Neuregulin 1) • CD8 (cluster of differentiation 8) • KMT2A (Lysine Methyltransferase 2A) • ETV6 (ETS Variant Transcription Factor 6) • NOTCH3 (Notch Receptor 3) • GATA6 (GATA Binding Protein 6)
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PD-L1 expression • ARID1A mutation • RET mutation • NOTCH3 mutation • MLL mutation • ETV6 mutation
3ms
Comprehensive genomic profiling on metastatic Melanoma: results from a network screening from 7 Italian Cancer Centres. (PubMed, J Transl Med)
The results presented in this study show the value and the challenge of a genomics-driven network trial. The data can be also a valuable resource as a validation cohort for Immunotherapy and Target therapy genomic biomarker research.
Journal • Tumor mutational burden • IO Companion diagnostic • IO biomarker • Metastases
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BRAF (B-raf proto-oncogene) • TMB (Tumor Mutational Burden) • NRAS (Neuroblastoma RAS viral oncogene homolog) • PDGFRB (Platelet Derived Growth Factor Receptor Beta) • NOTCH3 (Notch Receptor 3) • NOTCH4 (Notch 4)
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BRAF mutation • RET mutation • NOTCH3 mutation • PDGFRB mutation
4ms
Molecular Findings on Plasma Cell-Free DNA Analysis Among Adults with Histiocytic Neoplasms (ASH 2023)
"cfDNA analysis may have a role to identify potential drivers of pathogenesis among cases that are unable to successfully undergo tissue molecular analysis. Further studies are underway to characterize other novel alterations that were discovered in the cfDNA analysis."
Clinical
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KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • BRCA1 (Breast cancer 1, early onset) • MAP2K1 (Mitogen-activated protein kinase kinase 1) • NOTCH1 (Notch 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • MSH6 (MutS homolog 6) • NOTCH3 (Notch Receptor 3) • PIK3CD (Phosphatidylinositol-4 5-Bisphosphate 3-Kinase Catalytic Subunit Delta) • FUS (FUS RNA Binding Protein) • MUTYH (MutY homolog) • SDHD (Succinate Dehydrogenase Complex Subunit D) • TMEM127 (Transmembrane Protein 127) • LMTK2 (Lemur Tyrosine Kinase 2)
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BRAF V600E • BRAF fusion • NOTCH3 mutation
4ms
A Rare Case of CD1a +/CD207 + and S100 - Langerhans Cell Histiocytosis with Multi-System Risk Organ Involvement in Adult (ASH 2023)
Arginine Vasopressin Deficiency (AVP-D) was diagnosed, and desmopressin was initiated...While it is effective in adults, its limited tolerance favors the use of cytarabine or cladribine. NCT02670707 is an ongoing trial comparing cytarabine monotherapy versus Vinblastine/Prednisone for frontline treatment. BRAF inhibitors are also being increasingly investigated. Prospective trials to optimize the duration of therapy (LCH-IV) and potential combination therapies are currently underway.
Clinical
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KRAS (KRAS proto-oncogene GTPase) • NRAS (Neuroblastoma RAS viral oncogene homolog) • CD20 (Membrane Spanning 4-Domains A1) • MAP2K1 (Mitogen-activated protein kinase kinase 1) • ERBB3 (V-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3) • CREBBP (CREB binding protein) • JAK1 (Janus Kinase 1) • NOTCH3 (Notch Receptor 3) • ARAF (A-Raf Proto-Oncogene) • CD68 (CD68 Molecule) • CTNNA1 (Catenin Alpha 1) • DICER1 (Dicer 1 Ribonuclease III)
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BRAF V600E • KRAS mutation • BRAF V600 • CD20 positive • ERBB3 mutation • NOTCH3 mutation
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cytarabine • prednisone • cladribine • vinblastine
4ms
Molecular profiling and prognostic analysis in Chinese cholangiocarcinoma: an observational, retrospective single-center study. (PubMed, Invest New Drugs)
Furthermore, mutations in APC, DAXX, FANCA, LTK, MAP2K4, and NOTCH1 were associated with a poor prognosis (P < 0.05). This study provides an overview of genetic alterations in Chinese patients with CCA, which will provide novel potential biomarkers for the diagnosis of CCA and may guide targeted therapeutic strategies for Chinese patients with CCA.
Retrospective data • Journal
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TP53 (Tumor protein P53) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NOTCH1 (Notch 1) • AXL (AXL Receptor Tyrosine Kinase) • SMAD4 (SMAD family member 4) • FANCA (FA Complementation Group A) • NOTCH3 (Notch Receptor 3) • DAXX (Death-domain associated protein) • MAP2K4 (Mitogen-Activated Protein Kinase Kinase 4)
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TP53 mutation • APC mutation • SMAD4 mutation • FANCA mutation • NOTCH3 mutation
5ms
Spectrum and Clinical Features of Gene Mutations in Chinese Follicular Lymphoma (ASH 2023)
For patients who received R-CHOP-like regimens, the multivariate COX proportional hazard modeling identified TP53, TNFAIP3, and SOCS1 mutations as independent risk factors of PFS (HR 6.76, 95% CI 1.81 to 25.18, p =0.004; HR 3.68, 95% CI 1.06 to 12.82, p =0.041; HR 5.07, 95% CI 1.81 to 21.73, p =0.029). Our study depicted genomic characterization of real-world Chinses FL patients and demonstrated TP53, TNFAIP3 and SOCS1 mutations can help identify high-risk patients.
Clinical • Tumor mutational burden
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TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • CARD11 (Caspase Recruitment Domain Family Member 11) • NOTCH3 (Notch Receptor 3) • TNFAIP3 (TNF Alpha Induced Protein 3) • SOCS1 (Suppressor Of Cytokine Signaling 1) • PRDM1 (PR/SET Domain 1)
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NOTCH3 mutation • PRDM1 mutation • SOCS1 mutation
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Rituxan (rituximab)
5ms
Pathogenetic Dichotomy in Angioleiomyoma. (PubMed, Cancer Genomics Proteomics)
Our data, together with previously reported abnormal karyotypes in angioleiomyomas, show the presence of two recurrent genetic pathways in this tumor type: The first is characterized by presence of the translocation t(4;5)(p12;q32), which generates a CARMN::TXK chimera. The second is recurrent rearrangement of Xq22 resulting in overexpression of IRS4.
Journal
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PDGFRB (Platelet Derived Growth Factor Receptor Beta) • NOTCH2 (Notch 2) • NOTCH3 (Notch Receptor 3) • MYH11 (Myosin Heavy Chain 11)
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NOTCH3 mutation
6ms
Clinicopathologic features and genomic profiling of occult breast cancer (ESMO Asia 2023)
The differential mutation genes of OBC and BCAx might be associated with their respective biological behaviors like invasiveness and prognosis. The differences in NOTCH pathway and enrichment analysis might cause the occult lesions in the OBC.
Clinical • BRCA Biomarker
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HER-2 (Human epidermal growth factor receptor 2) • BRCA (Breast cancer early onset) • NOTCH3 (Notch Receptor 3) • GATA6 (GATA Binding Protein 6) • IRS2 (Insulin receptor substrate 2) • GATA3 (GATA binding protein 3)
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HER-2 negative • NOTCH3 mutation • BRCA mutation • NOTCH mutation
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FoundationOne® CDx
6ms
Skin Glomus Tumors: A Pathologic and Molecular Study of 11 Cases (ASDP 2023)
Skin primary glomus tumors show frequent mutations in NOTCH2 and NOTCH3 , including gene fusions and novel truncating mutations. The presence of occasional BRAF and PDGFRB alterations raise the possibility of targeted therapies in clinically-advanced cases of this tumor type.
Clinical • Tumor mutational burden
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BRAF (B-raf proto-oncogene) • TMB (Tumor Mutational Burden) • PDGFRB (Platelet Derived Growth Factor Receptor Beta) • ATRX (ATRX Chromatin Remodeler) • NOTCH2 (Notch 2) • NOTCH3 (Notch Receptor 3)
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BRAF V600E • BRAF V600 • ATRX mutation • NOTCH2 mutation • NOTCH3 mutation • PDGFRB mutation
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FoundationOne® CDx
7ms
Exploring the molecular characteristics of the malignant potential of gastric adenocarcinoma with enteroblastic differentiation. (PubMed, Histopathology)
The HER2 /EBV /MSS/TP53 /PD-L1 profile and hepatocellular carcinoma-related pathways may be significant in the malignant potential of GAED. In addition to anti-HER2 therapy, immune check-point inhibitors may be an effective treatment option for patients with GAED.
Journal • PD(L)-1 Biomarker • IO biomarker
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PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • AFP (Alpha-fetoprotein) • NOTCH3 (Notch Receptor 3)
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TP53 mutation • MSI-H/dMMR • HER-2 expression • NOTCH3 mutation
8ms
Comprehensive molecular profiling of small cell lung cancer patients treated with chemo-immunotherapy or chemotherapy alone (ESMO 2023)
Survival analyses and correlation of clinical outcome with mutational profiles are still ongoing. Conclusions Our results suggest that a comprehensive genomic profile could help to predict clinical outcome of ES-SCLC patients treated with CT-IO.
Clinical • Tumor mutational burden • IO biomarker
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TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • KMT2D (Lysine Methyltransferase 2D) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • NOTCH3 (Notch Receptor 3) • MLL2 (Myeloid/lymphoid or mixed-lineage leukemia 2) • RICTOR (RPTOR Independent Companion Of MTOR Complex 2) • MYCL (MYCL Proto-Oncogene BHLH Transcription Factor)
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TP53 mutation • TMB-H • TMB-L • KMT2D mutation • MYC rearrangement • NOTCH3 mutation
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FoundationOne® CDx
1year
PDGFRB and NOTCH3 Mutations are Detectable in a Wider Range of Pericytic Tumors, Including Myopericytomas, Angioleiomyomas, Glomus Tumors, and Their Combined Tumors. (PubMed, Mod Pathol)
Therefore, we found PDGFRB and NOTCH3 mutations to be detectable in a much wider variety of pericytic tumors than previously reported and confirmed myopericytomas, myofibromas, angioleiomyomas, and glomus tumors as members harboring PDGFRB or NOTCH3 mutations. Our results thus suggest that PDGFRB or NOTCH3 mutations are not useful for subclassifying members of the pericytic tumor family.
Journal
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PDGFRB (Platelet Derived Growth Factor Receptor Beta) • NOTCH3 (Notch Receptor 3)
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NOTCH3 mutation • PDGFRB mutation
1year
Large-scale cancer genomic analysis reveals significant disparities between microsatellite instability and tumor mutational burden (AACR 2023)
In addition, we identified several mutated genes associated with MSI-high phenotypes, including known mismatch repair genes (e.g., MSH3, POLD1, MLH1, and MSH6) and novel mutated genes (e.g., RNF43, ARID1A, ARID1B, NOTCH3, SMARCA4, KMT2C, and CREBBP), in endometrial cancer (n=32 genes), in colorectal cancer (n=29 genes) and in stomach cancer (n=18 genes), at a Bonferroni-corrected P < 0.05.Our study revealed large discrepancies in prevalence between MSI-high and TMB-high in many cancer types,, highlighting the need to consider distinct or combined biomarkers for immunotherapies. Our study also identified novel mutated genes associated with MSI-high cancers, providing additional insights into MSI-high carcinogenesis and candidate genetic biomarkers to screen patients for potential immunotherapy.
Tumor mutational burden • Microsatellite instability • MSi-H Biomarker • IO biomarker • Omic analysis
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TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • ARID1A (AT-rich interaction domain 1A) • MLH1 (MutL homolog 1) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • MSH6 (MutS homolog 6) • RNF43 (Ring Finger Protein 43) • KMT2C (Lysine Methyltransferase 2C) • CREBBP (CREB binding protein) • POLD1 (DNA Polymerase Delta 1) • NOTCH3 (Notch Receptor 3) • ARID1B (AT-Rich Interaction Domain 1B) • MSH3 (MutS Homolog 3)
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TMB-H • MSI-H/dMMR • ARID1A mutation • TMB-L • MSH6 mutation • RNF43 mutation • MLH1 mutation • NOTCH3 mutation
1year
Different treatment response in several head and neck squamous cell carcinoma (HNSCC) cell lines reflecting underlying genomic and molecular signatures (AACR 2023)
PI3K/mTOR dual inhibition, PI3Kalpha inhibitor, AKT inhibitor, FGFR inhibitor, ALK/IGF1R inhibitor, CDK4/6 inhibitor, BCl2 inhibitor, WEE1 inhibitor, ATR inhibitor, DNA-PK inhibitor, AT2AR inhibitor, Mcl-1 inhibitor, MEK1/2 inhibitor, EZH2 inhibitor, HDAC inhibitor, CDK9 inhibitor, DNMT3 inhibitor, BRD4/BET inhibitor, JAK2 inhibitor, CXCR4 inhibitor, FAK inhibitor, BTK inhibitor, eribulin, & VEGFR2/ PDGFR/FGFR or VEGFR2/c-MET/Axl triple blockage might be effective on TW2.6 and reverse treatment refractoriness, maybe through the inhibition of mesenchymal transformation, pRB, & PI3K/AKT /mTOR signaling and the modulation of stemness & PD1/PDL1 pathway...All cell lines will be tried to be categorized as TCGA subtypes for the reference of future drug combinations.Cell linesSCC25KBSASCAL27FaDuSCC15SCC9SCC4TW2.6Differ- entiationWellPoorPoorPoorPoorWellWellWellWell, but rapidly replicated, with high hyper-diploidy & complex rearrangementsHPV statusHPV 16/18HPV18--HPV 16/18--HPV 6/11-EGFR statusMediumLowHighHighMediumHighLowMedium to highUnknownDocetaxel sensitivity+++++++++++++ to +++++-+Cisplatin sensitivity+++++++++++++- to +-- to +5-FU sensitivity+++++++++++-+ to ++-- to +Afatinib sensitivity+++- to +-+++++ to +++++++++-Polo-like kinase Inhibitor sensitivity+++++++++++++ to +++- to +-- to +VEGFR2 Inhibitor sensitivity----+++++--++PI3K/ mTOR inhibitorAll cell lines sensitiveCDK4/6 Inhibitor response+++- to ++++++ to +++++++++++++ to +++Western blotsWeak p-AKT & VEGF-A, mild PDL1 and BMI-1, Gli-1(+)Weak p-AKT, mild PDL1 and strong VEGF-A & BMI-1, p16(+)Moderate p-AKT & BMI-1, high PDL1, mild VEGF-AHigh p-AKT & VEGF-A, mild PDL1 & BMI-1High VEGF-A, moderate p-AKT & PDL1, weak BMI-1, Gli-1(+)Weak p-AKT & VEGF-A, mild PDL1 & BMI-1Weak p-AKT, VEGF-A, & BMI-1, moderate PDL1Moderate p-AKT & VEGF-A, strong BMI-1, mild PDL1, Gli-1(+)High p-AKT, PDL1, & VEGF-A and moderate BMI-1NGSCCND1 gain, CDKN2A deletion, FRG1 mutation, HGF mutation, p53 mutation, ATR mutation, SMO mutation, RUNX1T1 mutationSTK11 mutation, PDGFRA mutation, IGF1 mutation, BCOR mutation, EGFR mutation, NOTCH1 mutation, MET mutation, IKZF1 mutation, NFKB1 mutation, DPYD mutation, FGFR4 mutation, BRCA1 mutation, MSH2 mutation, DNMT3A mutationKRAS mutation, MDM2 mutation, TMB-H, AXIN1 loss, RAD51D mutation, NOTCH1/2 mutation, ERBB4 mutation, PALB2 mutation, p53 mutation, POLE mutation, CASP8 mutation, BRCA2 mutation, RNF43 mutation, LRP1B mutation, MET mutationCDKN2A deletion, EGFR amplification, SMAD4 mutation, TMB-H, LRP1B mutation, APC mutation, CASP8 mutation, CREBBP mutation, PIK3CG mutation, NRAS mutation, ABL1 mutation, FGF23 mutation, HGF mutation, ATRX mutation, p53 mutation, ERBB2 mutation, ROS1 mutation, EP300 mutation, NRAS mutation, CDKN1A mutation, KDM6A mutation, FLT4 mutationCCND1 gain, CDKN2A deletion, FLCN mutation, TMB-H, LRP1B mutation, SMAD4 loss, SF3B1 mutation, FAT1 mutation, VHL mutation, NOTCH3 mutation, EPHA5 mutation, p53 mutation, ERCC2 mutationCCND1 gain, EGFR amplification, SMO mutation, ATR mutation, FAT1 loss, NTRK1 mutation, KMT2D mutation, p53 mutation, NOTCH3 mutationCDKN2A deletion, AXIN2 amplification, SMAD3 loss, HRAS mutation, ATR mutation, NF1 mutation. IGF1R mutation, FLCN mutation, KEAP1 mutation, ASXL1 mutation, PMS2 mutationCCND1 gain, NF1 loss, LRP1B mutation, NSD1 mutation, KMT2D mutation, p53 mutation, EPHA2 mutationFAT1 loss, CCND3/FGF10 amplification, PIK3CA H1047R mutation, STK11 mutation, RICTOR/FLCN amplification, VEGF-A amplification , TSC2 mutation, EPHB1 mutation, MAP2K4 mutation, KDM5A mutation, PDGFRB mutation, SETD2 mutation, RPTOR mutation, APC mutation, DDR2 mutation, ATM mutation, MDM2 mutation, p53 mutation, CDK12 mutation, HRAS mutation, MYC mutation, CDK8 mutation, ARID1B lossOutcomesBest; like TCGA CL (HPV+) subtypeLike TCGA basal subtype, but responded to particular treatments eachBasalBasalLike TCGA mesen-chymal subtype (HPV+)Like TCGA CL(HPV-) subtype, different characters between these 3 cell linesCL(HPV-) subtypeCL(HPV-) subtypeWorse; like TCGA EMT subtype (HPV-)Potential treatmentsAll sensitive maybe; Hedgehog inhibitor , HGF/c-MET inhibitor, and I/O could be tried(1) Taxane, cisplatin, PLKi (2) mTORi (3) IGF1Ri, METi, PDGFRi, FGFRi (4) Epigenetics (5) I/O(1) Taxane, cisplatin, 5-FU, PLKi (2) CDK4/6i (3) I/O (4) DDRi (5) KRASi, METi, HERi (6) p53 reactivator and MDM2/Mcl-1 inhibitor(1) Taxane, cisplatin, 5-FU, PLKi (2) CDK4/6i (3) Mild EGFRi response (4) I/O (5) NRASi, FGFRi, HGF/c-METi/ROS1i/HERi (6) p53 reactivator/DDRi/Epigenetics(1) Cisplatin, 5-FU (2) EGFRi and VEGFR2i (3) Weak to PLKi & CDK4/6i (4) I/O (5) mTORi (6) Ephi (7) DDR/Epigenetics (8) p53 reactivator (9) HIFi(1) Taxane and PLKi (2) EGFRi, VEGFR2i, CDK4/6i (3) NTRKi (4) Hedgehog inhibitor (5) DDRi, epigenetics,& p53 reactivator(1) Taxane &5-FU (2) EGFRi (3) HRASi (4) DDRi/Epigenetics (5) I/O (6) IGF1Ri (7) mTORi(1) EGFRi (2) CDK4/6i (3) I/O (4) Epigenetics (5) Ephi (6) p53 reactivator(1) CDK4/6 inhibitor (2) Multi-targeted VEGFR TKI (3) PI3K/AKT/mTOR inhibitor (4) ICIs combination (5) p53 reactivator/ DDR interventions/Epigenetics (6) Dasatinib, HRASi, EphB1/B4 interventions Further NGS analysis may translate these HNSCC cell lines to represent TCGA subtypes for the reference of future drug combinations, esp... Further NGS analysis may translate these HNSCC cell lines to represent TCGA subtypes for the reference of future drug combinations, esp. immunotherapy, basic/translational research, and animal models. LRP1B will be a potential ICIs efficacy biomarker in HNSCC.
Preclinical • Tumor mutational burden • BRCA Biomarker • PD(L)-1 Biomarker • IO biomarker
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HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • ABL1 (ABL proto-oncogene 1) • NRAS (Neuroblastoma RAS viral oncogene homolog) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • ATM (ATM serine/threonine kinase) • STK11 (Serine/threonine kinase 11) • HRAS (Harvey rat sarcoma viral oncogene homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • DNMT3A (DNA methyltransferase 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NOTCH1 (Notch 1) • NF1 (Neurofibromin 1) • KEAP1 (Kelch Like ECH Associated Protein 1) • POLE (DNA Polymerase Epsilon) • AXL (AXL Receptor Tyrosine Kinase) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • CCND1 (Cyclin D1) • MDM2 (E3 ubiquitin protein ligase) • PALB2 (Partner and localizer of BRCA2) • CXCR4 (Chemokine (C-X-C motif) receptor 4) • PDGFRB (Platelet Derived Growth Factor Receptor Beta) • KMT2D (Lysine Methyltransferase 2D) • LRP1B (LDL Receptor Related Protein 1B) • FGFR4 (Fibroblast growth factor receptor 4) • MSH2 (MutS Homolog 2) • RNF43 (Ring Finger Protein 43) • CDK12 (Cyclin dependent kinase 12) • SMAD4 (SMAD family member 4) • IKZF1 (IKAROS Family Zinc Finger 1) • ERCC2 (Excision repair cross-complementation group 2) • PMS2 (PMS1 protein homolog 2) • VHL (von Hippel-Lindau tumor suppressor) • APC (APC Regulator Of WNT Signaling Pathway) • ATRX (ATRX Chromatin Remodeler) • TSC2 (TSC complex subunit 2) • IGF1R (Insulin-like growth factor 1 receptor) • NOTCH2 (Notch 2) • CREBBP (CREB binding protein) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • SMO (Smoothened Frizzled Class Receptor) • BCOR (BCL6 Corepressor) • ERBB4 (erb-b2 receptor tyrosine kinase 4) • FAT1 (FAT atypical cadherin 1) • KDM6A (Lysine Demethylase 6A) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • PIK3CG (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Gamma) • NOTCH3 (Notch Receptor 3) • ARID1B (AT-Rich Interaction Domain 1B) • EP300 (E1A binding protein p300) • FLT4 (Fms-related tyrosine kinase 4) • IGF1 (Insulin-like growth factor 1) • NSD1 (Nuclear Receptor Binding SET Domain Protein 1) • RAD51D (RAD51 paralog D) • RICTOR (RPTOR Independent Companion Of MTOR Complex 2) • EPHA2 (EPH receptor A2) • BMI1 (BMI1 proto-oncogene, polycomb ring finger) • CASP8 (Caspase 8) • CCND3 (Cyclin D3) • BRD4 (Bromodomain Containing 4) • DDR2 (Discoidin domain receptor 2) • FLCN (Folliculin) • KDM5A (Lysine Demethylase 5A) • CDKN1A (Cyclin-dependent kinase inhibitor 1A) • DPYD (Dihydropyrimidine Dehydrogenase) • EPHA5 (EPH Receptor A5) • EPHB1 (EPH Receptor B1) • FGF10 (Fibroblast Growth Factor 10) • FGF23 (Fibroblast Growth Factor 23) • MAP2K4 (Mitogen-Activated Protein Kinase Kinase 4) • SMAD3 (SMAD Family Member 3)
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TP53 mutation • KRAS mutation • BRCA2 mutation • BRCA1 mutation • EGFR mutation • TMB-H • NRAS mutation • PIK3CA mutation • EGFR amplification • ATM mutation • PIK3CA H1047R • STK11 mutation • DNMT3A mutation • PALB2 mutation • POLE mutation • NF1 mutation • NOTCH1 mutation • ASXL1 mutation • CDKN2A deletion • BCL2 overexpression • KEAP1 mutation • SF3B1 mutation • CDKN2A mutation • KMT2D mutation • CDK12 mutation • LRP1B mutation • VHL mutation • PIK3CA amplification • HRAS mutation • APC mutation • ATR mutation • ATRX mutation • CCND1 amplification • PDGFRA mutation • CREBBP mutation • MSH2 mutation • RNF43 mutation • ROS1 mutation • SMAD4 mutation • BCOR mutation • FGFR4 mutation • KDM6A mutation • RAD51D mutation • TSC2 mutation • FAT1 mutation • MYC mutation • ARID1B mutation • NOTCH3 mutation • PMS2 mutation • SMO mutation • IKZF1 mutation • MDM2 mutation • NTRK1 mutation • EP300 mutation • ERBB4 mutation • NSD1 mutation • PIK3CA H1047R + PIK3C2B amplification • PIK3CG mutation • SETD2 mutation • EPHA5 mutation • EPHB1 mutation • ERCC2 mutation • FGF10 amplification • FGF23 mutation • FLCN mutation • HGF mutation • PDGFRB mutation • RAD51 mutation
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cisplatin • Gilotrif (afatinib) • dasatinib • 5-fluorouracil • Halaven (eribulin mesylate)
1year
Fistula-Associated Anal Adenocarcinoma: A 20-Year Single-Center Experience. (PubMed, Ann Surg Oncol)
FAAC is rare but associated with poor clinical outcome. Tissue acquisition is crucial for early diagnosis and therapy and should be performed in long-standing, non-healing, IBD-associated fistulas in particular. The immunophenotype of FAAC seems more similar to the rectal-type mucosa than the anal glands.
Journal
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TP53 (Tumor protein P53) • NOTCH1 (Notch 1) • SMAD4 (SMAD family member 4) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • NOTCH3 (Notch Receptor 3) • CDX2 (Caudal Type Homeobox 2) • MUC2 (Mucin 2)
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TP53 mutation • ATM mutation • NOTCH3 mutation • PIK3R1 mutation
1year
NOTCH3 missense mutations as predictor of long-term response to gemcitabine in a patient with epithelioid hemangioendothelioma. (PubMed, J Cancer Res Clin Oncol)
The observation that this missense mutation of NOTCH3 is associated with an increased response to treatment with gemcitabine in EHE can be used prospectively to assess NOTCH3 as potential biomarker for predicting therapy response to gemcitabine.
Review • Journal
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NOTCH3 (Notch Receptor 3)
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NOTCH3 mutation
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gemcitabine
1year
Analysis of the Clinicopathological and Molecular Characteristics of Gastric Adenocarcinoma with Enteroblastic Differentiation: an Exploration of Poor Prognosis of this Unique Subtype (USCAP 2023)
TP53 mutation and hepatocellular carcinoma-related pathway may play an important role in the poor prognosis of GAED, which belonging to chromosomally unstable subtype. In addition to anti-HER2 therapy, targeted-TRK and immunotherapy may be the efficient treatments for patients with GAED in the future.
Clinical • PD(L)-1 Biomarker • IO biomarker
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TP53 (Tumor protein P53) • MSI (Microsatellite instability) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • MLH1 (MutL homolog 1) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • NOTCH3 (Notch Receptor 3) • GPC3 (Glypican 3) • EPCAM (Epithelial cell adhesion molecule) • TLR4 (Toll Like Receptor 4) • CDX2 (Caudal Type Homeobox 2) • SALL4 (Spalt Like Transcription Factor 4)
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HER-2 positive • TP53 mutation • NTRK2 fusion • MSH2 mutation • MLH1 mutation • NOTCH3 mutation • PMS2 mutation • TP53 overexpression • TP53 R248Q
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VENTANA PD-L1 (SP263) Assay
over1year
Targeted Next-Generation Sequencing Identifies Additional Mutations Other than BCR∷ABL in Chronic Myeloid Leukemia Patients: A Chinese Monocentric Retrospective Study. (PubMed, Cancers (Basel))
In the analysis of clinical characteristics, hemoglobin concentration (HB) and MMR were independent factors for deep molecular response (DMR), and initial 2GTKI therapy was better than 1GTKI in the achievement of molecular response. For the scoring system, we found the ELTS score was the best for predicting the efficacy of TKI therapy and the Socal score was the best for predicting mutations other than BCR∷ABL.
Retrospective data • Journal • Next-generation sequencing
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ABL1 (ABL proto-oncogene 1) • ASXL1 (ASXL Transcriptional Regulator 1) • NOTCH3 (Notch Receptor 3) • RELN (Reelin)
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ASXL1 mutation • NOTCH3 mutation • RELN mutation
over1year
Patients deriving long-term benefit from immune checkpoint inhibitors demonstrate conserved patterns of site-specific mutations. (PubMed, Sci Rep)
Thus, this study identified several genes that may have utility as predictive biomarkers for therapeutic responses in patients receiving ICIs. As many have no known relationship to immunotherapy or ICIs, these genes warrant continued exploration, particularly for cancers in which established biomarkers such as PD-L1 expression or TMB have little predictive value.
Retrospective data • Journal • Checkpoint inhibition • Tumor Mutational Burden • PD(L)-1 Biomarker • IO biomarker
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PD-L1 (Programmed death ligand 1) • TMB (Tumor Mutational Burden) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • RNF43 (Ring Finger Protein 43) • VHL (von Hippel-Lindau tumor suppressor) • CREBBP (CREB binding protein) • NOTCH3 (Notch Receptor 3) • ZFHX3 (Zinc Finger Homeobox 3) • EPHA7 (EPH Receptor A7) • LATS1 (Large Tumor Suppressor Kinase 1) • NCOA3 (Nuclear Receptor Coactivator 3)
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PD-L1 expression • VHL mutation • CREBBP mutation • RNF43 mutation • NOTCH3 mutation • LATS1 mutation
over1year
Establishment and characterization of an unique tumoral cell line derived from a sinonasal teratocarcinosarcoma (EACR 2022)
Conclusion Cell line TCS627 appears representative of its original primary tumor and of SNTCS in general, although further studies are needed. This is the first SNTCS cell line established to date, constituting a suitable model for studying cellular and molecular mechanisms involved in the tumorigenesis and behavior of this type of tumors as well as a tool for testing new therapeutic approaches for SNTCS.
Preclinical
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CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • NOTCH3 (Notch Receptor 3) • STAG2 (Stromal Antigen 2) • SALL4 (Spalt Like Transcription Factor 4)
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STAG2 mutation • NOTCH3 mutation
almost2years
Potential genetic biomarker of Saudi Arabian patients with colorectal cancer. (PubMed, Eur Rev Med Pharmacol Sci)
As well as, lower expression of MLH1, MSH2, MSH6, PMS2, EPCAM and MUTYH genes were recognized in LS patients and future CRC Saudi patients. These gene mutations may be used as diagnostic and/or prognostic genetic markers in CRC Saudi patients and could offer a potential therapeutic target for CRC management.
Review • Journal • PARP Biomarker
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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) • PTEN (Phosphatase and tensin homolog) • NOTCH1 (Notch 1) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • ABCB1 (ATP Binding Cassette Subfamily B Member 1) • MSH2 (MutS Homolog 2) • CRLF2 (Cytokine Receptor Like Factor 2) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • TNFA (Tumor Necrosis Factor-Alpha) • PMS2 (PMS1 protein homolog 2) • CHEK2 (Checkpoint kinase 2) • NOTCH3 (Notch Receptor 3) • ABCC1 (ATP Binding Cassette Subfamily C Member 1) • PARP1 (Poly(ADP-Ribose) Polymerase 1) • CHEK1 (Checkpoint kinase 1) • EPCAM (Epithelial cell adhesion molecule) • MALAT1 (Metastasis associated lung adenocarcinoma transcript 1) • MMP2 (Matrix metallopeptidase 2) • NOTCH4 (Notch 4) • MIR34A (MicroRNA 34a-5p) • TLR9 (Toll Like Receptor 9) • BMI1 (BMI1 proto-oncogene, polycomb ring finger) • MUTYH (MutY homolog) • TLR4 (Toll Like Receptor 4) • FOXM1 (Forkhead Box M1) • IL17A (Interleukin 17A) • MIR182 (MicroRNA 182) • TSLP (Thymic Stromal Lymphopoietin) • XRCC1 (X-Ray Repair Cross Complementing 1) • CYP1A1 (Cytochrome P450 Family 1 Subfamily A Member 1) • MIR29A (MicroRNA 29a)
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NOTCH3 mutation • PIK3CA expression • EPCAM expression • PIK3CA overexpression • MSH6 expression
3years
The infantile myofibromatosis NOTCH3 L1519P mutation leads to hyperactivated ligand-independent Notch signaling and increased PDGFRB expression. (PubMed, Dis Model Mech)
Chloroquine treatment strongly reduces the amount of secreted NOTCH3 extracellular domain and decreases signaling...Collectively, our data define a NOTCH3-PDGFRB axis in IMF, where an IMF-mutated NOTCH3 receptor elevates PDGFRB expression. The functional characterization of a ligand-independent gain-of-function NOTCH3 mutation is important for Notch therapy considerations for IMF, including strategies aimed at altering lysosome function.
Journal
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PDGFRB (Platelet Derived Growth Factor Receptor Beta) • NOTCH3 (Notch Receptor 3)
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NOTCH3 mutation • PDGFRB mutation
over3years
Circulating Tumor DNA as a Prognostic Determinant in Small Cell Lung Cancer Patients Receiving Atezolizumab. (PubMed, J Clin Med)
ctDNA is strongly associated with the prognosis of SCLC patients treated with second-line immunotherapy. Its analysis seems justified for future SCLC clinical trials.
Clinical • Journal • PD(L)-1 Biomarker
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TP53 (Tumor protein P53) • RB1 (RB Transcriptional Corepressor 1) • NOTCH1 (Notch 1) • NOTCH2 (Notch 2) • NOTCH3 (Notch Receptor 3)
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TP53 mutation • NOTCH3 mutation
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Tecentriq (atezolizumab)
over3years
[VIRTUAL] Unraveling Actionable Target Mutations in Formalin Fixed Tissue in Mantle Cell Lymphoma (ASH 2020)
Darker blue identifies a missense mutation, light blue corresponds to a frameshift deletion, pink color matches frameshift insertions, orange represent in frame deletions, whereas red in frame insertions. Light green identifies nonsense mutations and dark green stands for different types of mutation affecting that gene in that sample.
BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • NOTCH1 (Notch 1) • CCND1 (Cyclin D1) • KMT2D (Lysine Methyltransferase 2D) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • NOTCH2 (Notch 2) • BIRC3 (Baculoviral IAP repeat containing 3) • NOTCH3 (Notch Receptor 3) • SOX11 (SRY-Box Transcription Factor 11)
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TP53 mutation • BRCA1 mutation • ATM mutation • NOTCH1 mutation • NOTCH3 mutation • TP53 expression • SOX11 expression
over3years
Association between tumor mutation profile and clinical outcomes among Hispanic Latina women with triple-negative breast cancer. (PubMed, PLoS One)
Our data strongly support the notion that molecular drivers of breast cancer could differ in HL women compared with other ethnic backgrounds. Therefore, a deeper understanding of the biological mechanisms behind NOTCH gene and PIK3CA mutations may lead to a new treatment approach.
Clinical • Clinical data • Retrospective data • Journal
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EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NOTCH1 (Notch 1) • NOTCH2 (Notch 2) • NOTCH3 (Notch Receptor 3)
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TP53 mutation • PIK3CA mutation • NOTCH3 mutation
almost4years
Comprehensive characterization of driver genes in diffuse large B cell lymphoma. (PubMed, Oncol Lett)
The present study improves the understanding of the biological processes and pathways involved in lymphomagenesis. The driver genes, EIF3B, MLH1, PPP1CA, RECQL4, XPO1 and LYN, pave the way for developing prognostic biomarkers and new therapeutic strategies for DLBCL.
Journal
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EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • KDR (Kinase insert domain receptor) • PDGFRB (Platelet Derived Growth Factor Receptor Beta) • IL6 (Interleukin 6) • MLH1 (MutL homolog 1) • KMT2D (Lysine Methyltransferase 2D) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • B2M (Beta-2-microglobulin) • CDH1 (Cadherin 1) • STAT3 (Signal Transducer And Activator Of Transcription 3) • NOTCH3 (Notch Receptor 3) • MLL2 (Myeloid/lymphoid or mixed-lineage leukemia 2) • RECQL4( RecQ Like Helicase 4)
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NOTCH3 mutation • PDGFRB mutation
almost4years
[VIRTUAL] Exome sequencing reveals PTPRS, NOTCH3, FGFR1/3 mutations as novel mutational features in medullary thyroid cancer (AACR-II 2020)
Our exome sequencing study identified recurrent mutations in PTPRS, NOTCH3, FGFR1/3 as novel recurrent mutational features in MTC. Notably, some of them were detected in RET wildtype patients, suggesting a possible functional role of the genes in carcinogenesis. The functional studies to further define the roles of these gene mutations in MTC are ongoing.
Tumor Mutational Burden
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TMB (Tumor Mutational Burden) • RET (Ret Proto-Oncogene) • FGFR1 (Fibroblast growth factor receptor 1) • FGFR (Fibroblast Growth Factor Receptor) • CHEK2 (Checkpoint kinase 2) • NOTCH3 (Notch Receptor 3) • EP300 (E1A binding protein p300) • SOX2 • DNMT1 (DNA methyltransferase 1) • FGF (Fibroblast Growth Factor)
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RET mutation • FGFR1 mutation • NOTCH3 mutation
almost4years
[VIRTUAL] Exome sequencing and integrated clinical association studies expand the molecular landscape of papillary thyroid cancer (PTC) and reveal novel clinical markers (AACR-II 2020)
In our population of patients with PTC, we identified IRS2 as a novel recurrently mutated gene in PTC that may associate with a less aggressive disease phenotype and NOTCH3 mutations associated with more aggressive disease. Functional studies to further define the roles of these genes are ongoing.
Clinical
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BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • NOTCH3 (Notch Receptor 3) • IRS2 (Insulin receptor substrate 2)
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BRAF mutation • NOTCH3 mutation
almost4years
[VIRTUAL] RNA AND DNA SEQUENCING REVEAL MARKERS OF RESPONSE TO THE XPO1 INHIBITOR ELTANEXOR IN PATIENTS WITH RELAPSED OR REFRACTORY MULTIPLE MYELOMA (RRMM) (EHA 2020)
As anticipated, similar response signatures were seen between eltanexor and selinexor. Follow-up studies to further understand the biologic significance of altered protein activities and validate the mutations putatively associated with response in larger sample sets will be conducted.
Clinical • IO biomarker
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KRAS (KRAS proto-oncogene GTPase) • NRAS (Neuroblastoma RAS viral oncogene homolog) • BCL6 (B-cell CLL/lymphoma 6) • TOP2A (DNA topoisomerase 2-alpha) • NOTCH3 (Notch Receptor 3) • USH2A (Usherin)
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KRAS mutation • KRAS G12D • KRAS G12 • NRAS Q61 • NRAS G12D • NRAS Q61L • NOTCH3 mutation • KRAS A146V • KRAS Q61L
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Xpovio (selinexor) • eltanexor (KPT-8602)