Varaico: Literature-Extracted Genetic Variants

Gene:ARID1A
Variant:p.D1850fs
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ARID1A

NM_006015.6:p.D1850fs

Associated Papers

Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.

Kauppinen AK et al.

International Journal of Cancer, 2025

40772756 (PubMed )
Supplement: IJC-157-2294-s002.xlsx › A_Blood_as_normal

Enabling whole genome sequencing analysis from FFPE specimens in clinical oncology.

Domenico D et al.

Nature Communications, 2025

Clinical Validation of Local Versus Commercial Genomic Testing in Cancer: A Comparison of Tissue and Plasma Concordance.

Faulkner LG et al.

Cancer Investigation, 2025

39989311 (PubMed )
Supplement: supplement_1.pdf

Utilizing Patient-Derived Xenografts to Model Precision Oncology for Biliary Tract Cancer.

DiPeri TP et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

39513959 (PubMed )
Supplement: ccr-24-1233_supplementary_tables_1_-_8_suppts1.xlsx › Table_S3

Targeted therapy guided by circulating tumor DNA analysis in advanced gastrointestinal tumors.

Nakamura Y et al.

Nature Medicine, 2025

39284955 (PubMed )
Supplement: 41591_2024_3244_MOESM2_ESM.xlsx › Suppementary_Table_1

RNA hybrid-capture next-generation sequencing has high sensitivity in identifying known and less characterized oncogenic and likely oncogenic NTRK fusions in a real-world standard-of-care setting.

Wallen ZD et al.

Frontiers in Genetics, 2025

40385986 (PubMed )
Supplement: Supplementaryfile1.xlsx › Supplementary_Table_3

Decoding the molecular landscape: HER2 and PD-L1 in advanced gastric cancer.

Yao J et al.

Frontiers in Immunology, 2025

40519936 (PubMed )
Supplement: Table1.xlsx › SNV

Genomic Landscape of ctDNA and Real-World Outcomes in Advanced Endometrial Cancer.

Soberanis Pina P et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

Microsatellite Instability-High and High Tumor Mutation Burden Frequencies in Urologic Malignancies Off-Label for Immune Checkpoint Inhibitors in Japan: A Retrospective Single-Institutional Cohort.

Yaegashi H et al.

Cureus, 2024

Somatic and germline mutations in endometrial cancer.

Botea R et al.

Journal of Medicine and Life, 2024

Comparative analysis of ARID1A mutations with mRNA levels and protein expression in gastric carcinoma.

Hwang I et al.

Pathology, Research and Practice, 2024

Fetal Type Morphologies Suggest the Presence of DICER1 Hotspot Mutations in Non-small Cell Lung Cancer.

Chong AL et al.

The American Journal of Surgical Pathology, 2024

Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.

Shah SM et al.

Cancer Research Communications, 2024

38282550 (PubMed )
Supplement: crc-23-0312-s02.xlsx › Supplemental_Figure_3_OC_data

Genomic profiling of NSCLC tumors with the TruSight oncology 500 assay provides broad coverage of clinically actionable genomic alterations and detection of known and novel associations between genomic alterations, TMB, and PD-L1.

Wallen ZD et al.

Frontiers in Oncology, 2024

39664186 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2

Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.

Rosenberg S et al.

Molecular Oncology, 2023

36694946 (PubMed )
Supplement: MOL2-17-1844-s003.xlsx › 2a.Studied_gene

Pure and mixed clear cell carcinoma of the endometrium: A molecular and immunohistochemical analysis study.

Reijnen C et al.

Cancer Medicine, 2023

37081760 (PubMed )
Supplement: CAM4-12-12365-s001.pdf

Molecular profiling of colorectal cancer in a genetically admixed Hispanic population.

Montes-Rodríguez IM et al.

Cancer Medicine, 2023

37039257 (PubMed )
Supplement: CAM4-12-11686-s002.xlsx › Top_mutated_genes

SWI/SNF complex gene variations are associated with a higher tumor mutational burden and a better response to immune checkpoint inhibitor treatment: a pan-cancer analysis of next-generation sequencing data corresponding to 4591 cases.

Li Y et al.

Cancer Cell International, 2022

ARID1A mutations confer intrinsic and acquired resistance to cetuximab treatment in colorectal cancer.

Johnson RM et al.

Nature Communications, 2022

Mutational landscape of normal epithelial cells in Lynch Syndrome patients.

Lee BCH et al.

Nature Communications, 2022

35581206 (PubMed )
Supplement: 41467_2022_29920_MOESM3_ESM.xlsx › SD7

Diagnostic Validation of a Comprehensive Targeted Panel for Broad Mutational and Biomarker Analysis in Solid Tumors.

Froyen G et al.

Cancers, 2022

35626061 (PubMed )
Supplement: cancers-14-02457-s001.zip › cancers-1701391-supplementary.pdf

Genetic and Clinical Characteristics of ARID1A Mutated Melanoma Reveal High Tumor Mutational Load without Implications on Patient Survival.

Thielmann CM et al.

Cancers, 2022

35565222 (PubMed )
Supplement: cancers-14-02090-s001.zip › cancers-1666969_Supplementary_material.pdf

An unusual case of microsatellite instability-high/deficient mismatch repair (MSI-H/dMMR) diffuse large B-cell lymphoma revealed by targeted gene sequencing.

Han B et al.

Journal of Pathology and Translational Medicine, 2022

Molecular Analysis of an Intestinal Neuroendocrine/Non-neuroendocrine Neoplasm (MiNEN) Reveals MLH1 Methylation-driven Microsatellite Instability and a Monoclonal Origin: Diagnostic and Clinical Implications.

Sciammarella C et al.

Applied Immunohistochemistry & Molecular Morphology : Aimm, 2022

Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.

Olkinuora AP et al.

Frontiers in Oncology, 2022

36387175 (PubMed )
Supplement: Table_7.xlsx › Table_S7

Actionable Molecular Alterations Are Revealed in Majority of Advanced Non-Small Cell Lung Cancer Patients by Genomic Tumor Profiling at Progression after First Line Treatment.

Frank MS et al.

Cancers, 2021

35008297 (PubMed )
Supplement: cancers-14-00132-s001.zip › Supplementary_Table_S1.xlsx › Overview_ver2

Pan-cancer landscape of CD274 (PD-L1) rearrangements in 283,050 patient samples, its correlation with PD-L1 protein expression, and immunotherapy response.

Kelly AD et al.

Journal for Immunotherapy of Cancer, 2021

34815356 (PubMed )
Supplement: jitc-2021-003550supp001.pdf

Liquid Biopsy in Gastric Cancer: Analysis of Somatic Cancer Tissue Mutations in Plasma Cell-Free DNA for Predicting Disease State and Patient Survival.

Varkalaite G et al.

Clinical and Translational Gastroenterology, 2021

34644276 (PubMed )
Supplement: ct9-12-e00403-s006.pdf

Next-Generation Sequencing-Directed Therapy in Patients with Metastatic Breast Cancer in Routine Clinical Practice.

Bruzas S et al.

Cancers, 2021

34572791 (PubMed )
Supplement: cancers-13-04564-s001.zip › cancers-1336427-supplementary › Supplementary_material › Table_S1_-_Genetic_alterations_identified_by_NGS_in_95_patients_with_metastatic_breast_cancer.xlsx › Table_S1

Olaparib Monotherapy for Previously Treated Pancreatic Cancer With DNA Damage Repair Genetic Alterations Other Than Germline BRCA Variants: Findings From 2 Phase 2 Nonrandomized Clinical Trials.

Javle M et al.

Jama Oncology, 2021

Serial genomic analysis of endometrium supports the existence of histologically indistinct endometrial cancer precursors.

Aguilar M et al.

The Journal of Pathology, 2021

33506979 (PubMed )
Supplement: PATH-254-20-s005.xlsx › Table_S3

Somatic mutations in lymphocytes in patients with immune-mediated aplastic anemia.

Lundgren S et al.

Leukemia, 2021

33785863 (PubMed )
Supplement: 41375_2021_1231_MOESM3_ESM.xlsx › Book1

Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Sivapiragasam A et al.

Cancer Medicine, 2021

33314633 (PubMed )
Supplement: CAM4-10-53-s002.xlsx › Sheet1

Identification of Key Genes Mutations Associated With the Radiosensitivity by Whole Exome Sequencing in Pancreatic Cancer.

Hu B et al.

Frontiers in Oncology, 2021

34434896 (PubMed )
Supplement: DataSheet_2.xlsx › S3

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2

Precision Oncology in Metastatic Uterine Cancer; Croatian First-Year Experience of the Comprehensive Genomic Profiling in Everyday Clinical Practice.

Čerina D et al.

Pathology Oncology Research : Por, 2021

34646088 (PubMed )
Supplement: DataSheet2.docx

Genomic profiling reveals high frequency of DNA repair genetic aberrations in gallbladder cancer.

Abdel-Wahab R et al.

Scientific Reports, 2020

33328484 (PubMed )
Supplement: 41598_2020_77939_MOESM1_ESM.xlsx › Sheet1

Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.

Pandey A et al.

Nature Communications, 2020

32839463 (PubMed )
Supplement: 41467_2020_17880_MOESM13_ESM.xlsx › Predicted_Neoantigens

Molecular profiling identifies synchronous endometrial and ovarian cancers as metastatic endometrial cancer with favorable clinical outcome.

Reijnen C et al.

International Journal of Cancer, 2020

32022266 (PubMed )
Supplement: IJC-147-478-s001.pdf

Next-generation sequencing analysis of endometrial screening liquid-based cytology specimens: a comparative study to tissue specimens.

Akahane T et al.

Bmc Medical Genomics, 2020

32652986 (PubMed )
Supplement: 12920_2020_753_MOESM2_ESM.xlsx › Sheet1

Feasibility of next-generation sequencing in clinical practice: results of a pilot study in the Department of Precision Medicine at the University of Campania 'Luigi Vanvitelli'.

De Falco V et al.

Esmo Open, 2020

32234730 (PubMed )
Supplement: esmoopen-2020-000675supp003.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."