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    BIOMARKER:

    ARID1A mutation

    i
    Other names: ARID1A, AT-Rich Interaction Domain 1A, SWI/SNF-Related, Matrix-Associated, Actin-Dependent Regulator Of Chromatin Subfamily F Member 1, AT-Rich Interactive Domain-Containing Protein 1A, AT Rich Interactive Domain 1A (SWI-Like), ARID Domain-Containing Protein 1A, SWI/SNF Complex Protein P270, BRG1-Associated Factor 250a, SWI-Like Protein, Osa Homolog 1, SMARCF1, C1orf4, BAF250, HOSA1, OSA1, AT Rich Interactive Domain 1A (SWI- Like), Chromatin Remodeling Factor P250, BRG1-Associated Factor 250, OS
    Entrez ID:
    8289
    Related biomarkers:
    Mutation
    CNA
    Others
    2d
    Somatic mutations that affect early genetic progression and immune microenvironment in gastric carcinoma. (PubMed, Pathol Res Pract)
    HRD showed a positive correlation with tumor mutational burden, which might serve as indirect evidence supporting the potential of HRD as a biomarker for GC. These findings highlighted GC's high heterogeneity and complexity and provided valuable insights into the somatic mutations that affect early genetic progression and immune microenvironment.
    Journal • Tumor mutational burden • MSi-H Biomarker • IO biomarker
    |
    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • HRD (Homologous Recombination Deficiency) • ARID1A (AT-rich interaction domain 1A) • LRP1B (LDL Receptor Related Protein 1B) • RNF43 (Ring Finger Protein 43) • SMAD4 (SMAD family member 4) • KMT2C (Lysine Methyltransferase 2C) • MUC16 (Mucin 16, Cell Surface Associated) • TTN (Titin) • FAT4 (FAT Atypical Cadherin 4) • MUC5B (Mucin 5B, Oligomeric Mucus/Gel-Forming) • CSMD3 (CUB And Sushi Multiple Domains 3) • SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1) • XIRP2 (Xin Actin Binding Repeat Containing 2) • ZFHX4 (Zinc Finger Homeobox 4)
    |
    MSI-H/dMMR • HRD • ARID1A mutation • RNF43 mutation • SMAD4 mutation
    3d
    mRNA Display Identifies Potent, Paralog-Selective Peptidic Ligands for ARID1B. (PubMed, ACS Chem Biol)
    Using orthogonal biochemical, biophysical, and chemical biology tools, we demonstrate that the peptides engage two different binding pockets, one of which directly involves an ARID1B-exclusive cysteine that could allow covalent targeting by small molecules. Our findings impart the first evidence of the ligandability of ARID1B, provide valuable tools for drug discovery, and suggest opportunities for the development of selective molecules to exploit the synthetic lethal relationship between ARID1A and ARID1B in cancer.
    Journal
    |
    ARID1A (AT-rich interaction domain 1A) • ARID1B (AT-Rich Interaction Domain 1B)
    |
    ARID1A mutation
    7d
    Integrated mutational landscape analysis of poorly differentiated high-grade neuroendocrine carcinoma of the uterine cervix. (PubMed, Proc Natl Acad Sci U S A)
    However, combinations of copanlisib/afatinib and copanlisib/elimusertib were significantly more effective in controlling NETc tumor growth. These findings define the genetic landscape of NETc and suggest that a large subset of these highly lethal malignancies might benefit from existing targeted therapies.
    Journal
    |
    HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • PTEN (Phosphatase and tensin homolog) • RB1 (RB Transcriptional Corepressor 1) • ARID1A (AT-rich interaction domain 1A) • KMT2D (Lysine Methyltransferase 2D) • NOTCH2 (Notch 2) • MLL2 (Myeloid/lymphoid or mixed-lineage leukemia 2) • MBD4 (Methyl-CpG Binding Domain 4, DNA Glycosylase) • PVT1 (Pvt1 Oncogene) • RPL10 (Ribosomal Protein L10)
    |
    KRAS mutation • PIK3CA mutation • ARID1A mutation • KMT2D mutation
    |
    Gilotrif (afatinib) • Aliqopa (copanlisib) • elimusertib (BAY 1895344)
    12d
    Deep-targeted gene sequencing reveals ARID1A mutation as an important driver of glioblastoma. (PubMed, CNS Neurosci Ther)
    The ARID1A gene is a critical predictive biomarker for glioma. Mutations at the ARID1A locus alter the stability of the SWI/SNF complex, leading to changes in transcriptional regulation in glioma cells. This contributes to an increased malignant phenotype of GBM and plays a pivotal role in mediating chemoresistance.
    Journal
    |
    ARID1A (AT-rich interaction domain 1A) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • CDKN1A (Cyclin-dependent kinase inhibitor 1A)
    |
    ARID1A mutation
    |
    temozolomide
    14d
    SMARCA4 Mutations in Gastroesophageal Adenocarcinoma: An Observational Study via a Next-Generation Sequencing Panel. (PubMed, Cancers (Basel))
    These results serve as the first comprehensive examination of the relationship between SMARCA4ms and clinical outcomes in GEA.
    Observational data • Journal • Next-generation sequencing • PD(L)-1 Biomarker • IO biomarker
    |
    HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • FANCA (FA Complementation Group A) • FANCL (FA Complementation Group L)
    |
    PD-L1 expression • TP53 mutation • KRAS mutation • HER-2 mutation • PTEN mutation • ARID1A mutation • SMARCA4 mutation
    15d
    Comprehensive characterization of genomic features and clinical outcomes following targeted therapy and secondary cytoreductive surgery in OCCC: a single center experience. (PubMed, J Gynecol Oncol)
    Our study demonstrates encouraging outcomes with bevacizumab and ICI, and SCS in select relapsed OCCC patients. Prospective trials are warranted.
    Clinical data • Journal • Tumor mutational burden • IO biomarker • Surgery
    |
    KRAS (KRAS proto-oncogene GTPase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • FGFR2 (Fibroblast growth factor receptor 2) • ARID1A (AT-rich interaction domain 1A) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin))
    |
    KRAS mutation • PIK3CA mutation • ARID1A mutation • FGFR2 mutation • NBN mutation
    |
    Avastin (bevacizumab)
    17d
    Human epidermal growth factor receptor-2 expression and subsequent dynamic changes in patients with ovarian cancer. (PubMed, Sci Rep)
    Patients with HER2-overexpressing OC exhibited distinct histological, IHC, and genomic profiles. HER2-targeting agents are potential options for BRCA-wildtype patients, particularly as later lines of treatment.
    Journal • BRCA Biomarker • PD(L)-1 Biomarker • IO biomarker
    |
    HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • ARID1A (AT-rich interaction domain 1A) • BRCA (Breast cancer early onset)
    |
    PD-L1 expression • TP53 mutation • KRAS mutation • HER-2 overexpression • HER-2 amplification • PIK3CA mutation • PD-L1 underexpression • ARID1A mutation • BRCA wild-type • TP53 expression • BRCA mutation • HER-2 amplification + PD-L1 expression • PD-L1-L
    19d
    Gastric carcinoma in autoimmune gastritis: a histopathologic and molecular study. (PubMed, Mod Pathol)
    The most frequently altered genes were: TP53 (8/19, 42%), RNF43 (7/19, 37%), ERBB2 (7/19, 37% [two amplified and five mutated cases]), ARID1A (6/19, 32%), and PIK3CA (4/19, 21%). In summary, AIG-associated GCs are often diagnosed at low stage in patients with long-standing misrecognized severe AIG; they often display a neuroendocrine component or differentiation, have relatively higher rates of MMR deficiency, and TMB-high.
    Journal • PD(L)-1 Biomarker • IO biomarker
    |
    HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • ARID1A (AT-rich interaction domain 1A) • CLDN18 (Claudin 18) • MUC1 (Mucin 1) • RNF43 (Ring Finger Protein 43) • CDX2 (Caudal Type Homeobox 2) • MUC2 (Mucin 2) • MUC5AC (Mucin 5AC) • MUC6 (Mucin 6)
    |
    TMB-H • HER-2 amplification • PIK3CA mutation • HER-2 mutation • ARID1A mutation
    19d
    ARID1A regulates DNA repair through chromatin organization and its deficiency triggers DNA damage-mediated anti-tumor immune response. (PubMed, Nucleic Acids Res)
    Furthermore, low ARID1A expression in cancer patients receiving radiotherapy was associated with higher infiltration of several immune cells. The high mutation rate of ARID1A in various cancer types highlights its clinical relevance as a promising biomarker that correlates with the level of immune regulatory cytokines and estimates the levels of tumor-infiltrating immune cells, which can predict the response to the combination of radio- and immunotherapy.
    Journal • IO biomarker
    |
    ARID1A (AT-rich interaction domain 1A) • RAD21 (RAD21 Cohesin Complex Component) • HDAC1 (Histone Deacetylase 1) • RSF1 (Remodeling and spacing factor 1)
    |
    ARID1A mutation
    23d
    Establishment of a human ovarian clear cell carcinoma cell line mutant in PIK3CB but not PIK3CA. (PubMed, Hum Cell)
    Moreover, characteristic point mutations-one in ARID1A, which encodes the AT-rich interaction domain containing protein 1A, and the other in PIK3CB, which encodes the catalytic subunit of phosphoinositide 3-kinase-were seen in the patient's tumour tissue and retained in MTC-22 cells. Collectively, these findings indicate that MTC-22 cells could serve as a valuable tool for investigating the pathophysiology of ovarian clear cell carcinoma, particularly that harbouring PIK3CB mutations, and for developing and validating new diagnostic and therapeutic approaches to this life-threatening malignancy.
    Preclinical • Journal
    |
    PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • ARID1A (AT-rich interaction domain 1A) • PIK3CB (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta)
    |
    PIK3CA mutation • ARID1A mutation • PIK3CB mutation
    27d
    Prognostic genomic alterations in patients undergoing liver resection for hepatocellular carcinoma. (PubMed, Mol Biol Rep)
    MYC amplifications had a prognostic influence on survival, whereas ARID1A gene mutations were correlated with microvascular invasion. These may serve as prognostic biomarkers and should be validated in large, independent cohort.
    Journal
    |
    MYC (V-myc avian myelocytomatosis viral oncogene homolog) • ARID1A (AT-rich interaction domain 1A)
    |
    ARID1A mutation • MYC amplification
    |
    TruSight Oncology 500 Assay
    28d
    Heterogeneous expression of ARID1A in colorectal cancer indicates distinguish immune landscape and efficacy of immunotherapy. (PubMed, Discov Oncol)
    Heterogeneous ARID1A expression is accompanied by a different immune landscape. CRC patients with ARID1A-clonal expression deficiency do not benefit from the treatment of immune checkpoint inhibitors (ICIs).
    Journal • IO biomarker
    |
    ARID1A (AT-rich interaction domain 1A) • CD8 (cluster of differentiation 8) • CD163 (CD163 Molecule) • FOXP3 (Forkhead Box P3)
    |
    MSI-H/dMMR • ARID1A mutation
    1m
    Epigenetic MLH1 silencing concurs with mismatch repair deficiency in sporadic, naturally occurring colorectal cancer in rhesus macaques. (PubMed, J Transl Med)
    These data indicate that epigenetic silencing suppresses MLH1 transcription, induces the loss of MLH1 protein, abrogates mismatch repair, and drives genomic instability in naturally occurring CRC in rhesus macaques. We consider this spontaneous, uninduced CRC in immunocompetent, treatment-naïve rhesus macaques to be a uniquely informative model for human CRC.
    Journal • Mismatch repair • IO biomarker
    |
    KRAS (KRAS proto-oncogene GTPase) • ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • MSI (Microsatellite instability) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ARID1A (AT-rich interaction domain 1A) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • AMER1 (APC Membrane Recruitment Protein 1) • NEUROG1 (Neurogenin 1) • TFAP2A (Transcription Factor AP-2 Alpha)
    |
    TP53 mutation • KRAS mutation • KRAS G12D • ARID1A mutation • KRAS G12 • TP53 R175H • MLH1 mutation
    1m
    DDRiver Solid Tumours 301: Tuvusertib (M1774) in Participants With Metastatic or Locally Advanced Unresectable Solid Tumors (DDRiver Solid Tumors 301) (clinicaltrials.gov)
    P1, N=204, Active, not recruiting, EMD Serono Research & Development Institute, Inc. | Recruiting --> Active, not recruiting
    Enrollment closed • Metastases
    |
    ARID1A (AT-rich interaction domain 1A) • ATRX (ATRX Chromatin Remodeler)
    |
    ATM mutation • ARID1A mutation
    |
    Zejula (niraparib) • tuvusertib (M1774)
    1m
    Prognostic role of transcription factor ARID1A in patients with endometrial cancer of no specific molecular profile (NSMP) subtype. (PubMed, Int J Gynecol Cancer)
    ARID1A appears to identify patients with endometrial cancer of NSMP subtypes with a higher risk of recurrence and could be used as a future prognostic biomarker. After clinical validation, ARID1A assessment could help to further sub-classify selected endometrial cancers and improve personalized treatment strategies.
    Journal
    |
    ARID1A (AT-rich interaction domain 1A)
    |
    ARID1A mutation
    1m
    Increased genomic instability and reshaping of tissue microenvironment underlie oncogenic properties of Arid1a mutations. (PubMed, Sci Adv)
    ARID1A loss primarily results in DNA damage accumulation, interferon type I response activation, and chronic inflammation leading to tumor formation. Our data suggest that in healthy tissues, the increased genomic instability that follows ARID1A mutations and the selective pressure imposed by the microenvironment might result in the emergence of aggressive, possibly immune-resistant, tumors.
    Journal
    |
    ARID1A (AT-rich interaction domain 1A) • ARID1B (AT-Rich Interaction Domain 1B)
    |
    ARID1A mutation
    1m
    Clonal origin and genomic diversity in Lynch syndrome-associated endometrial cancer with multiple synchronous tumors: Identification of the pathogenicity of MLH1 p.L582H. (PubMed, Genes Chromosomes Cancer)
    Additionally, all tumors presented unique mutations in endometrial cancer-associated genes such as ARID1A and PIK3CA. In conclusion, we demonstrated clonal origin and genomic diversity in a Lynch syndrome-associated endometrial cancer, suggesting the importance of evaluating multiple sites in Lynch syndrome patients with synchronous tumors.
    Journal
    |
    PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MSI (Microsatellite instability) • ARID1A (AT-rich interaction domain 1A) • MLH1 (MutL homolog 1)
    |
    PIK3CA mutation • ARID1A mutation
    2ms
    Evaluate the Safety and Clinical Activity of HH2853 (clinicaltrials.gov)
    P1/2, N=168, Recruiting, Haihe Biopharma Co., Ltd. | Trial completion date: Dec 2024 --> Dec 2025 | Trial primary completion date: Dec 2023 --> Dec 2025
    Trial completion date • Trial primary completion date • Metastases
    |
    ARID1A (AT-rich interaction domain 1A) • BAP1 (BRCA1 Associated Protein 1)
    |
    ARID1A mutation • BAP1 mutation • EZH2 mutation • SMARCA4 mutation
    |
    HH2853
    2ms
    Urinary comprehensive genomic profiling assists in non-invasive detection and molecular staging of upper tract urothelial carcinoma (AUA 2024)
    uCGP can identify genomic features associated with UTUC and provide definitive results in cases of atypical cytology. Unique genomic patterns provide insight into tumor grade and origin. This study suggests uCGP can provide diagnostic and prognostic information for the evaluation for UTUC.
    HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • ERBB3 (V-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3) • ARID1A (AT-rich interaction domain 1A) • TERT (Telomerase Reverse Transcriptase) • KMT2D (Lysine Methyltransferase 2D) • CREBBP (CREB binding protein) • STAG2 (Stromal Antigen 2) • SOX4 (SRY-Box Transcription Factor 4)
    |
    PIK3CA mutation • HER-2 mutation • ARID1A mutation • KMT2D mutation • CREBBP mutation • ERBB3 mutation • STAG2 mutation • TERT mutation
    |
    UroAmp
    2ms
    Minimal residual disease detection supports high-grade bladder cancer risk-stratification during recommended repeat transurethral resection (AUA 2024)
    These results support uCGP-guided risk-stratification of HG UCB patients undergoing re-TURBT. MRD detection provides prognostic information for multifocal and visually occult disease.
    Tumor mutational burden • Minimal residual disease
    |
    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • RB1 (RB Transcriptional Corepressor 1) • ARID1A (AT-rich interaction domain 1A) • TERT (Telomerase Reverse Transcriptase)
    |
    TP53 mutation • ARID1A mutation • TERT mutation
    |
    UroAmp
    2ms
    Establishment of the molecular subtypes and a risk model for stomach adenocarcinoma based on genes related to reactive oxygen species. (PubMed, Heliyon)
    These findings provided novel understanding on the mechanism of ROS in STAD. The current study developed a ROS-related signature to help predict the prognosis of patients suffering from STAD and to guide personalized treatment.
    Journal • Tumor mutational burden • IO biomarker
    |
    TMB (Tumor Mutational Burden) • ARID1A (AT-rich interaction domain 1A) • SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1) • ASCL2 (Achaete-Scute Family BHLH Transcription Factor 2)
    |
    ARID1A mutation
    2ms
    Colorectal medullary carcinoma: a pathological subtype with intense immune response and potential to benefit from immune checkpoint inhibitors. (PubMed, Expert Rev Clin Immunol)
    In addition, BRAF mutation plays an important role in the occurrence and development, and we can consider the combination of BRAF inhibitors and immunotherapy in patients with BRAF mutant. The exploration of colorectal medullary carcinoma will arouse researchers' attention to the correlation between pathological subtypes and immune response, and promote the process of precise immunotherapy.
    Review • Journal • Checkpoint inhibition • PD(L)-1 Biomarker • IO biomarker
    |
    PD-L1 (Programmed death ligand 1) • ARID1A (AT-rich interaction domain 1A) • IFNG (Interferon, gamma)
    |
    PD-L1 expression • BRAF V600E • BRAF V600 • ARID1A mutation
    2ms
    ARID1A orchestrates SWI/SNF-mediated sequential binding of transcription factors with ARID1A loss driving pre-memory B cell fate and lymphomagenesis. (PubMed, Cancer Cell)
    These observations offer mechanistic understanding into the emergence of both indolent and aggressive ARID1A-mutant lymphomas through the formation of immature memory-like clonal precursors. Lastly, we demonstrate that ARID1A mutation induces synthetic lethality to SMARCA2/4 inhibition, paving the way for potential precision therapy for high-risk patients.
    Journal • IO biomarker
    |
    BCL2 (B-cell CLL/lymphoma 2) • ARID1A (AT-rich interaction domain 1A) • PD-L2 (Programmed Cell Death 1 Ligand 2) • CD40 (CD40 Molecule) • SMARCA2 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 2) • CD80 (CD80 Molecule)
    |
    ARID1A mutation
    2ms
    SWI/SNF regulation of germinal center fate and lymphomagenesis. (PubMed, Cancer Cell)
    and Deng et al. find that loss of ARID1A or SMARCA4 contributes to lymphomagenesis by causing B cells to aberrantly re-enter germinal centers where they undergo repeated rounds of proliferation and somatic hypermutation.
    Journal
    |
    ARID1A (AT-rich interaction domain 1A) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4)
    |
    ARID1A mutation • SMARCA4 mutation
    2ms
    Molecular features of gastroenteropancreatic neuroendocrine carcinoma: A comparative analysis with lung neuroendocrine carcinoma and digestive adenocarcinomas. (PubMed, Chin J Cancer Res)
    Putative targetable genes and biomarkers in GEPNEC were identified in 22.2% of the patients, and they had longer progression-free survival (PFS) upon targetable treatment [12.5 months vs. 3.0 months, HR=0.40 (0.21-0.75), P=0.006]. This work demonstrated striking gene distinctions in GEPNEC compared with LNEC and adenocarcinoma and their clinical utility.
    Journal
    |
    KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • RB1 (RB Transcriptional Corepressor 1) • ARID1A (AT-rich interaction domain 1A) • KEAP1 (Kelch Like ECH Associated Protein 1) • TERT (Telomerase Reverse Transcriptase) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • CDH1 (Cadherin 1) • IL7R (Interleukin 7 Receptor)
    |
    TP53 mutation • KRAS mutation • ARID1A mutation • KEAP1 mutation • RB1 mutation • TERT mutation • TERT amplification
    2ms
    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
    2ms
    Genomic landscape of gynecologic cancers with poor prognosis in Japan, an analysis of the national database of comprehensive genomic profiling tests (AACR 2024)
    The C-CAT database offers insights into the mutational landscape of various cancers and histological subtypes, especially those with poor prognosis, highlighting the unmet needs for drug development in these gynecologic cancers.
    Tumor mutational burden • MSi-H Biomarker
    |
    HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ARID1A (AT-rich interaction domain 1A)
    |
    TP53 mutation • KRAS mutation • TMB-H • MSI-H/dMMR • PIK3CA mutation • ARID1A mutation • STK11 mutation • CDKN2A mutation
    |
    FoundationOne® CDx
    2ms
    Landscape of HRD aberration in EGFR mutated lung cancer and the role of PARP-inhibitor in EGFR mutated lung cancer with HRD aberration (AACR 2024)
    We also present a case demonstrating a favorable response to the dual therapy of olaparib and osimertinib in NSCLC harboring EGFR, RAD50, and ARID1A mutations that progressed on osimertinib. There were 2298 patients in the NSCLC cohort (MSKCC database). HRD aberrations are uncommon in EGFR mutated lung cancer patients. Further investigation on the role of PARP inhibitor in EGFR mutated lung cancer is warranted.
    PARP Biomarker • BRCA Biomarker
    |
    EGFR (Epidermal growth factor receptor) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • ARID1A (AT-rich interaction domain 1A) • RAD50 (RAD50 Double Strand Break Repair Protein)
    |
    BRCA2 mutation • BRCA1 mutation • EGFR mutation • EGFR exon 19 deletion • HRD • ARID1A mutation • EGFR E746_A750del • HRD + BRCA1 mutation • RAD50 mutation • EGFR E746
    |
    Guardant360® CDx
    |
    Lynparza (olaparib) • Tagrisso (osimertinib)
    2ms
    A rare Ewing-like small round cell tumor in prostate: a case report and literature review. (PubMed, J Cancer Res Clin Oncol)
    Because of its non-elevated serum PSA level, prostate SRCT is often ignored as a possibility of malignant tumor and regarded as benign prostatic hyperplasia (BPH). The possibility of prostate SRCT need to be considered if dysuria symptoms could not alleviate significantly after a period of oral treatment.
    Review • Journal
    |
    ARID1A (AT-rich interaction domain 1A) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • RAF1 (Raf-1 Proto-Oncogene Serine/Threonine Kinase) • BCL2L11 (BCL2 Like 11)
    |
    ARID1A mutation
    |
    finasteride
    2ms
    Diagnosis and management of gastric-type endocervical adenocarcinoma: A case report and review of the literature. (PubMed, Gynecol Oncol)
    Here, we summarize the current therapeutic options, including surgery, radiation therapy, and chemotherapy, while also exploring emerging approaches, such as targeted therapies and immunotherapy. This article provides a comprehensive overview of GEA, synthesizing current knowledge from historical perspectives to contemporary insights, focusing on its classification, genetics, outcomes, and therapeutic strategies.
    Review • Journal • IO biomarker
    |
    KRAS (KRAS proto-oncogene GTPase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • ARID1A (AT-rich interaction domain 1A)
    |
    PIK3CA mutation • ARID1A mutation
    2ms
    Smad4 restricts injury-provoked biliary proliferation and carcinogenesis. (PubMed, Dis Model Mech)
    Expression analyses of Smad4-perturbed reactive cholangiocytes and CCA lines demonstrated shared enriched pathways, including cell-cycle regulation, MYC signaling and oxidative phosphorylation, suggesting that Smad4 may act via these mechanisms to regulate cholangiocyte proliferation and progression to CCA. Overall, we showed that TGFβ/SMAD4 signaling serves as a critical barrier restraining cholangiocyte expansion and malignant transformation in states of biliary injury.
    Journal
    |
    KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • ARID1A (AT-rich interaction domain 1A) • SMAD4 (SMAD family member 4)
    |
    TP53 mutation • KRAS mutation • ARID1A mutation • SMAD4 mutation
    2ms
    Complexity of the Genetic Background of Oncogenesis in Ovarian Cancer-Genetic Instability and Clinical Implications. (PubMed, Cells)
    Ongoing research shows promise for advancing personalized treatments and refining genetic testing in neoplastic diseases, including ovarian cancer. Clinical genetic screening tests can identify women at increased risk, guiding predictive cancer risk-reducing surgery.
    Review • Journal • BRCA Biomarker • PARP Biomarker
    |
    KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • CTNNB1 (Catenin (cadherin-associated protein), beta 1)
    |
    TP53 mutation • KRAS mutation • BRCA2 mutation • BRCA1 mutation • BRAF mutation • PIK3CA mutation • TP53 wild-type • PTEN mutation • ARID1A mutation • MYC amplification
    2ms
    First-in-Human Study of the Ataxia Telangiectasia and Rad3-related (ATR) Inhibitor Tuvusertib (M1774) as Monotherapy in Patients with Solid Tumors. (PubMed, Clin Cancer Res)
    Tuvusertib demonstrated manageable safety and exposure-related target engagement. Further clinical evaluation of tuvusertib is ongoing.
    P1 data • Journal • BRCA Biomarker • PARP Biomarker
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    ARID1A (AT-rich interaction domain 1A) • ATRX (ATRX Chromatin Remodeler) • BRCA (Breast cancer early onset) • DAXX (Death-domain associated protein)
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    ARID1A mutation • BRCA wild-type
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    tuvusertib (M1774)
    2ms
    High somatic mutations in circulating tumor DNA predict response of metastatic pancreatic ductal adenocarcinoma to first-line nab-paclitaxel plus S-1: prospective study. (PubMed, J Transl Med)
    High mutations of multiple driving genes in ctDNA and their dynamic changes could effectively predict response of mPDAC to NPS chemotherapy, with promising reliable predictive performance superior to routine clinicopathologic parameters. Inspiringly, longitudinal ctDNA tracking could predict disease progression about 2 months ahead of radiologic or CA19-9 evaluations, with the potential to precisely devise individualized therapeutic strategies for mPDAC.
    Journal • Circulating tumor DNA • Metastases
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    KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ARID1A (AT-rich interaction domain 1A) • SMAD4 (SMAD family member 4) • CA 19-9 (Cancer antigen 19-9)
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    TP53 mutation • KRAS mutation • ARID1A mutation
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    albumin-bound paclitaxel • Teysuno (gimeracil/oteracil/tegafur)
    2ms
    Large-Scale Cancer Genomic Analysis Reveals Significant Disparities Between Microsatellite Instability and Tumor Mutational Burden. (PubMed, Cancer Epidemiol Biomarkers Prev)
    These findings suggest that distinct or combined biomarkers should be considered for immunotherapy in human cancers because notable discrepancies exist between MSI-H and TMB-H across different cancer types.
    Journal • Tumor mutational burden • Microsatellite instability • MSi-H Biomarker • IO biomarker
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    TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • ARID1A (AT-rich interaction domain 1A) • ARID1B (AT-Rich Interaction Domain 1B)
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    TMB-H • MSI-H/dMMR • ARID1A mutation • TMB-L • MSI-H/dMMR + TMB-L
    2ms
    ARID1A loss is associated with increased NRF2 signaling in human head and neck squamous cell carcinomas. (PubMed, PLoS One)
    Overall, our results support a context-dependent functional link between SWI/SNF and NRF2 mutations across human cancers and implicate ARID1A inactivation in HPV-negative HNSC in promoting tumor progression and survival through activation of the KEAP1-NRF2 signaling pathway. The tumor-specific effects of these mutations open a new area of study for how mutations in the KEAP1-NRF2 pathway and the SWI/SNF complex contribute to cancer.
    Journal
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    ARID1A (AT-rich interaction domain 1A) • NFE2L2 (Nuclear Factor, Erythroid 2 Like 2)
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    ARID1A mutation • KEAP1 mutation • NFE2L2 mutation
    2ms
    Recurrent Wnt Pathway and ARID1A Alterations in Sinonasal Olfactory Carcinoma. (PubMed, Mod Pathol)
    A small subset of neuroepithelial tumors might better fit into the superseding molecular category of IDH2-mutant sinonasal carcinoma. At this point, sinonasal neuroendocrine and neuroepithelial tumors may best be regarded as a histologic and molecular spectrum that includes core groups of ONB, olfactory carcinoma, neuroendocrine carcinoma, and IDH2-mutant sinonasal carcinoma.
    Journal
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    IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • ARID1A (AT-rich interaction domain 1A) • RUNX1 (RUNX Family Transcription Factor 1) • TP63 (Tumor protein 63) • PPP2R1A (Protein Phosphatase 2 Scaffold Subunit Aalpha)
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    IDH2 mutation • ARID1A mutation • RUNX1 mutation
    2ms
    HER2 Gene Amplification in Endometrial Clear Cell Carcinoma:a Mono-Institutional Study of 23 Cases in China (USCAP 2024)
    In endometrial clear cell carcinoma, we observed 8.7% of tumors with HER2 gene amplification. The HER2 immunohistochemical staining appears to be consistent with the HER2 gene amplification. It needs further cases to be validated.
    Clinical • MSi-H Biomarker
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    HER-2 (Human epidermal growth factor receptor 2) • MSI (Microsatellite instability) • ERBB3 (V-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3) • ARID1A (AT-rich interaction domain 1A) • NOTCH1 (Notch 1) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • ARID1B (AT-Rich Interaction Domain 1B) • SPOP (Speckle Type BTB/POZ Protein) • ERCC5 (ERCC Excision Repair 5 Endonuclease 2) • ZNF217 (Zinc Finger Protein 217) • RECQL4( RecQ Like Helicase 4) • PIK3R2 (Phosphoinositide-3-Kinase Regulatory Subunit 2 )
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    MSI-H/dMMR • HER-2 overexpression • HER-2 amplification • ARID1A mutation • SMARCA4 mutation
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    PATHWAY antiHer2/neu (4B5) Rabbit Monoclonal Primary Antibody
    2ms
    Association between Homologous Recombination Repair Defect Status and Long-Term Prognosis of Early HER2-Low Breast Cancer: A Retrospective Cohort Study. (PubMed, Oncologist)
    Higher HRD scores were associated with poorer PFI outcomes, particularly in people with HR+/HER2-low. Varied HRD states exhibited distinctions in HRRGs and the tumor immune landscape. These insights have the potential to assist clinicians in promptly identifying high-risk groups and tailoring personalized treatments for patients with HER2-low EBC, aiming to enhance long-term outcomes.
    Retrospective data • Journal • BRCA Biomarker
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    HER-2 (Human epidermal growth factor receptor 2) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • ARID1A (AT-rich interaction domain 1A) • CD8 (cluster of differentiation 8)
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    BRCA2 mutation • HER-2 negative • HER-2 expression • HRD • ATM mutation • ARID1A mutation • High HRD score
    2ms
    Targeting PI3K/AKT/mTOR and MAPK Signaling Pathways in Gastric Cancer. (PubMed, Int J Mol Sci)
    In clinical trials, promising results have come from monoclonal antibodies such as trastuzumab and ramucirumab. Dual inhibitors targeting the PI3K/AKT/mTOR and MAPK signaling pathways were used in vitro studies, also with promising results. The main aim of this review is to present GC incidence and risk factors and the dysregulations of the two protein kinase complexes together with their specific inhibitors.
    Review • Journal
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    TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • ERBB3 (V-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3) • ARID1A (AT-rich interaction domain 1A) • CDH1 (Cadherin 1)
    |
    TP53 mutation • PIK3CA mutation • ARID1A mutation • ERBB3 mutation
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    Herceptin (trastuzumab) • Cyramza (ramucirumab)
    2ms
    Protein destabilization underlies pathogenic missense mutations in ARID1B. (PubMed, Nat Struct Mol Biol)
    While most CSS ARID1B aberrations introduce frameshifts or stop codons, the functional consequence of missense mutations found in ARID1B is unclear. We here perform saturated mutagenesis screens on ARID1B and demonstrate that protein destabilization is the main mechanism associated with pathogenic missense mutations in patients with Coffin-Siris Syndrome.
    Journal
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    ARID1A (AT-rich interaction domain 1A) • ARID1B (AT-Rich Interaction Domain 1B)
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    ARID1A mutation • ARID1B mutation
    3ms
    ARID2 mutations may relay a distinct subset of cutaneous melanoma patients with different outcomes. (PubMed, Sci Rep)
    Melanoma patients with ARID mutations exhibited higher prevalence of markers associated with ICI response, including TMB-H, and immune-related signatures. Our data also suggests improved survival outcome in patients with ARID2 mutations, irrespective of anti-PD1 therapy.
    Journal • Tumor mutational burden • PD(L)-1 Biomarker • MSi-H Biomarker • IO biomarker
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    PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • ARID1A (AT-rich interaction domain 1A) • NF1 (Neurofibromin 1) • IFNG (Interferon, gamma) • ARID2 (AT-Rich Interaction Domain 2)
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    PD-L1 expression • TMB-H • MSI-H/dMMR • BRAF mutation • ARID1A mutation • NF1 mutation • RAS mutation • ARID2 mutation
    |
    VENTANA PD-L1 (SP142) Assay