ArticleHuman mutation2012
Somatic mutations in the chromatin remodeling gene ARID1A occur in several tumor types.
Article in Human mutation, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 165 papers, 2 of them syntheses that pooled it.
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Who cites it
165 citing papers in PubMed, 2 syntheses or guidelines pooled it, 284 citations in OpenAlex.
- Integrative DNA methylation and gene expression analysis to assess the universality of the CpG island methylator phenotype.Human genomics · 2015Pooled it
- Unique characteristics ofSaudi journal of gastroenterology : official journal of the Saudi Gastroenterology AssociationPooled it
- Differential DNA damage response to WRN inhibition identifies a targetable vulnerability inScience advances · 2026Article
- Targeting miR-4653-3p/SLC25A51/SIRT3 axis to induce synthetic lethality in ARID1A-deficient colorectal cancer via blockade of DNA repair.Journal of translational medicine · 2026Article
- Computational image and molecular analysis reveal unique prognostic features of immune architecture in African Versus European American women with endometrial cancer.NPJ precision oncology · 2025Article
- Establishment and genomic profiling of cholangiocarcinoma cells with functional characterization.Scientific reports · 2025Article
- AURKA inhibition shows promise as a therapeutic strategy for ARID1A-mutant colorectal cancer.Discover oncology · 2024Article
- Chromatin remodellers as therapeutic targets.Nature reviews. Drug discovery · 2024Review
- The combination of exon sequencing and metabolomics to establish a molecular typing system for gastric cancer.Heliyon · 2024Article
- Therapeutic targeting of ARID1A-deficient cancer cells with RITA (Reactivating p53 and inducing tumor apoptosis).Cell death & disease · 2024Article
- ARID1A loss is associated with increased NRF2 signaling in human head and neck squamous cell carcinomas.PloS one · 2024Article
- Tumor radiogenomics in gliomas with Bayesian layered variable selection.Medical image analysis · 2023Article
- The effects of ARID1A mutation in gastric cancer and its significance for treatment.Cancer cell international · 2023Review
- A new Bayesian factor analysis method improves detection of genes and biological processes affected by perturbations in single-cell CRISPR screening.Nature methods · 2023Article
- Mechanism of Cell Death by Combined Treatment with an xCT Inhibitor and Paclitaxel: An Alternative Therapeutic Strategy for Patients with Ovarian Clear Cell Carcinoma.International journal of molecular sciences · 2023Article
- Alterations in the Epigenetic Machinery Associated with Prostate Cancer Health Disparities.Cancers · 2023Article
- Landscape of chromatin remodeling gene alterations in endometrial carcinoma.Gynecologic oncology · 2023Article
- Validity of pathological diagnosis for early colorectal cancer in genetic background.Cancer medicine · 2023Article
- The role of molecular testing in pancreatic cancer.Therapeutic advances in gastroenterology · 2023Review
- Characterizing chromatin interactions of regulatory elements and nucleosome positions, using Hi-C, Micro-C, and promoter capture Micro-C.Epigenetics & chromatin · 2022Article
105 more citing papers are in PubMed but not listed here.
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Authors and funding
21 authors at 8 institutions in 2 countries.
Funding
Abstract
Mutations in the chromatin remodeling gene ARID1A have recently been identified in the majority of ovarian clear cell carcinomas (OCCCs). To determine the prevalence of mutations in other tumor types, we evaluated 759 malignant neoplasms including those of the pancreas, breast, colon, stomach, lung, prostate, brain, and blood (leukemias). We identified truncating mutations in 6% of the neoplasms studied; nontruncating somatic mutations were identified in an additional 0.4% of neoplasms. Mutations were most commonly found in gastrointestinal samples with 12 of 119 (10%) colorectal and 10 of 100 (10%) gastric neoplasms, respectively, harboring changes. More than half of the mutated colorectal and gastric cancers displayed microsatellite instability (MSI) and the mutations in these tumors were out-of-frame insertions or deletions at mononucleotide repeats. Mutations were also identified in 2-8% of tumors of the pancreas, breast, brain (medulloblastomas), prostate, and lung, and none of these tumors displayed MSI. These findings suggest that the aberrant chromatin remodeling consequent to ARID1A inactivation contributes to a variety of different types of neoplasms.
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