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BIOMARKER:

ARID1A mutation

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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:
Related biomarkers:
3d
Comprehensive Genomic Characterization Between Urothelial Carcinoma Subtypes/Divergent Differentiation (S/DD) and Pure Urothelial Carcinoma Using a Large-Scale Japanese Genomic Panel Dataset. (PubMed, Int J Urol)
Using a large-scale Japanese genomic panel dataset, we characterized the molecular alterations associated with S/DD. S/DD frequently exhibits low Nectin-4 expression and basal-like molecular features, which may have implications for treatment selection and inform future therapeutic strategies.
Journal • PD(L)-1 Biomarker • IO biomarker
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EGFR (Epidermal growth factor receptor) • PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • FGFR3 (Fibroblast growth factor receptor 3) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • ARID1A (AT-rich interaction domain 1A) • CCND1 (Cyclin D1) • FGF19 (Fibroblast growth factor 19) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • KDM6A (Lysine Demethylase 6A) • FGF4 (Fibroblast growth factor 4) • NECTIN4 (Nectin Cell Adhesion Molecule 4) • GATA3 (GATA binding protein 3) • TACSTD2 (Tumor Associated Calcium Signal Transducer 2)
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PD-L1 expression • TP53 mutation • EGFR expression • ARID1A mutation • FGFR3 mutation • RB1 mutation
3d
Comparative analysis of genomic profiles and clinical outcomes in cholangiocarcinoma and gallbladder cancer. (PubMed, Sci Rep)
In the MSKCC cohort, high tumor mutational burden (TMB-Hmed) correlated with poorer OS (HR = 1.43, P = 0.01), while PBRM1 mutations were associated with improved survival (HR = 0.50, P = 0.02). This study underscores the distinct genomic profiles of GBC and CCA, offering valuable insights into the molecular underpinnings of these aggressive cancers and supporting the development of precision medicine strategies.
Clinical data • Journal • Tumor mutational burden
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KRAS (KRAS proto-oncogene GTPase) • TMB (Tumor Mutational Burden) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ARID1A (AT-rich interaction domain 1A) • CCNE1 (Cyclin E1) • MCL1 (Myeloid cell leukemia 1) • PBRM1 (Polybromo 1) • ARID2 (AT-Rich Interaction Domain 2) • SOX2
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TMB-H • ARID1A mutation
6d
Differential DNA damage response to WRN inhibition identifies a targetable vulnerability in ARID1A-mutated cancers. (PubMed, Sci Adv)
The antitumor efficacy of WRN inhibition alone and in combination with p21 inhibition was validated using cell line-based xenograft and patient-derived xenograft mouse models. Our findings define WRN as a selective therapeutic target in ARID1A-mutated cancers and suggest a combinatorial strategy of WRN and p21 inhibition as a therapeutic approach.
Journal
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ARID1A (AT-rich interaction domain 1A) • CHEK2 (Checkpoint kinase 2) • CHEK1 (Checkpoint kinase 1) • WRN (WRN RecQ Like Helicase) • CDKN1A (Cyclin-dependent kinase inhibitor 1A)
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ARID1A mutation
9d
In silico analysis of driver genes in squamous cell carcinoma of the cervix: insights into their biological functions, prognosis, immune infiltration, and therapy. (PubMed, World J Surg Oncol)
Collectively, our analysis describes the driver genes and mutation characteristics in SCC. The multi-cohort and network-based framework employed in this study identifies candidate hub genes that warrant further clinical investigation in cervical cancer.
Journal
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KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • ARID1A (AT-rich interaction domain 1A) • NOTCH1 (Notch 1) • KMT2D (Lysine Methyltransferase 2D) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • KMT2C (Lysine Methyltransferase 2C) • FAT1 (FAT atypical cadherin 1) • EP300 (E1A binding protein p300) • CASP8 (Caspase 8)
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TP53 mutation • KRAS mutation • PIK3CA mutation • ARID1A mutation • STK11 mutation
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Herceptin (trastuzumab) • everolimus • Piqray (alpelisib)
9d
ARID1A loss drives gastric signet ring cell carcinoma by regulating mucin production and secretion. (PubMed, Nat Commun)
Inhibition of Brd9 ameliorates the malignancy of SRCC. Thus, our study reveals dual roles of ARID1A in both mucin production and secretion, providing new mechanistic insights and potential therapeutic vulnerabilities in SRCC.
Journal
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TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A)
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TP53 mutation • ARID1A mutation
9d
IACS-6274 With or Without Bevacizumab and Paclitaxel for the Treatment of Advanced Solid Tumors (clinicaltrials.gov)
P1, N=54, Recruiting, M.D. Anderson Cancer Center | Trial completion date: May 2026 --> Jun 2028 | Trial primary completion date: May 2026 --> Mar 2028
Trial completion date • Trial primary completion date
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PD-L1 (Programmed death ligand 1) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • ARID1A (AT-rich interaction domain 1A) • NF1 (Neurofibromin 1) • KEAP1 (Kelch Like ECH Associated Protein 1) • PD-1 (Programmed cell death 1) • NFE2L2 (Nuclear Factor, Erythroid 2 Like 2)
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PIK3CA mutation • PTEN mutation • ARID1A mutation • STK11 mutation • KEAP1 mutation • NFE2L2 mutation
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Avastin (bevacizumab) • paclitaxel • Truqap (capivasertib) • IPN60090
10d
Radiogenomic analysis of muscle-invasive bladder cancer using CT-based texture analysis. (PubMed, Bladder Cancer)
Our study demonstrates that CT-derived radiomics features can capture biologically and clinically relevant information in muscle-invasive bladder cancer. These findings support the potential utility of radiomics as a noninvasive, scalable adjunct to genomic profiling in MIBC.
Journal • Tumor mutational burden
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TMB (Tumor Mutational Burden) • FGFR3 (Fibroblast growth factor receptor 3) • ARID1A (AT-rich interaction domain 1A) • EP300 (E1A binding protein p300) • CASP3 (Caspase 3)
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TMB-H • ARID1A mutation • FGFR3 mutation
10d
Genetic mutations in metastatic adenocarcinoma of unknown primary. (PubMed, Otolaryngol Pol)
GNAS and PIK3CA mutations were linked to favorable outcomes, while ARID1A and NOTCH1 alterations indicated poor prognosis in ACUP. These results highlight the prognostic significance of specific genomic alterations and support integrating CGP into the clinical management of ACUP.
Journal
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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) • STK11 (Serine/threonine kinase 11) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ARID1A (AT-rich interaction domain 1A) • NOTCH1 (Notch 1) • KMT2D (Lysine Methyltransferase 2D) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • NOTCH3 (Notch Receptor 3) • GNAS (GNAS Complex Locus)
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PIK3CA mutation • ARID1A mutation
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FoundationOne® CDx
14d
Study of Tuvusertib (M1774) in Combination With DNA Damage Response Inhibitor or Immune Checkpoint Inhibitor (DDRiver Solid Tumors 320) (clinicaltrials.gov)
P1, N=120, Active, not recruiting, EMD Serono Research & Development Institute, Inc. | Trial completion date: Apr 2026 --> Jan 2027 | Trial primary completion date: Apr 2026 --> Jan 2027
Trial completion date • Trial primary completion date • Checkpoint inhibition • IO biomarker
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ATM (ATM serine/threonine kinase) • ARID1A (AT-rich interaction domain 1A)
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ARID1A mutation
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Bavencio (avelumab) • tuvusertib (M1774) • lartesertib (M4076)
15d
Ovarian Mucinous Neoplasms Associated With Mesonephric-like Lesions: An Updated Study With Novel Pathologic Features. (PubMed, Am J Surg Pathol)
The presence of benign MLP/MLH alongside MLA suggests that the former may represent noncancerous precursor lesions with the potential to develop into MLA; they may represent benign (MLP) or borderline (MLH) mesonephric-like lesions. Whether mesonephric-like lesions serve as precursors of ovarian mucinous tumors remains debated, but their coexistence in the ovary, as documented in 20 cases to date (including previously published cases and the current series), may represent a unique biological process and provide an ideal model for investigating mechanisms of transdifferentiation and tumorigenesis.
Journal
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KRAS (KRAS proto-oncogene GTPase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • DNMT3A (DNA methyltransferase 1) • ARID1A (AT-rich interaction domain 1A) • TET2 (Tet Methylcytosine Dioxygenase 2) • TTF1 (Transcription Termination Factor 1) • NKX2-1 (NK2 Homeobox 1) • GATA3 (GATA binding protein 3) • PAX8 (Paired box 8)
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KRAS mutation • PIK3CA mutation • ARID1A mutation • KRAS G12
16d
Targeting arginine metabolism reverses bone immunosuppressive microenvironment and metastasis in ARID1A-deficient triple negative breast cancer. (PubMed, Nat Commun)
Targeting key enzymes of arginase 2 (ARG2) and ornithine decarboxylase 1 (ODC1) in arginine metabolic pathway effectively reduces bone metastasis in ARID1A-deficient models. Collectively, these findings reveal that ARID1A deficiency promotes bone metastasis by activating arginine metabolism to expand PMN-MDSCs and potentially offers therapeutic strategies for preventing bone metastasis in female patients with ARID1A-deficient TNBC.
Journal
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ARID1A (AT-rich interaction domain 1A) • ARG2 (Arginase 2)
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ARID1A mutation
20d
Two-year treatment-free sustained remission after chemo-immunotherapy in a 52-year-old male with recurrent ARID1A-mutant lung adenocarcinoma: a case report. (PubMed, Transl Lung Cancer Res)
He received neoadjuvant cisplatin-pemetrexed followed by left upper lobectomy and adjuvant chemotherapy...The patient was treated with carboplatin, pemetrexed, and pembrolizumab, achieving a complete metabolic response after four cycles...This case supports a potential association between ARID1A alterations and enhanced sensitivity to immune checkpoint inhibition in NSCLC. Incorporation of ARID1A assessment into comprehensive genomic profiling is warranted, although its predictive value requires further validation studies.
Journal • PD(L)-1 Biomarker • IO biomarker
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PD-L1 (Programmed death ligand 1) • ARID1A (AT-rich interaction domain 1A)
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PD-L1 expression • ARID1A mutation
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Keytruda (pembrolizumab) • cisplatin • carboplatin • pemetrexed