ArticleThe New England journal of medicine2010
ARID1A mutations in endometriosis-associated ovarian carcinomas.
Article in The New England journal of medicine, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 890 papers, 1 of them a synthesis that pooled it.
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890 citing papers in PubMed, 1 synthesis or guideline pooled it, 1,667 citations in OpenAlex.
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- Paraurethral Endometrioid Carcinoma Arising From Ectopic Endometriosis: A Case Report.IJU case reports · 2026Article
- Spatial heterogeneity of hotspot mutations and clonal relatedness in ovarian endometrioid carcinoma.Molecular oncology · 2026Article
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- Multi-institutional study of mesonephric-like adenocarcinoma: its clinicopathological characteristics and histogenetic association with ectopic endometrium.Virchows Archiv : an international journal of pathology · 2026Article
- Somatic Cancer Driver Mutation Analysis in Endometriosis with Tumor-like Presentations: A Case Series Study.Biomedicines · 2026Article
- The translation landscape of ovarian clear cell carcinoma indicates that RBM4 plays a pro-oncogenic role in tumor progression.Oncogene · 2026Article
- Liquid Biopsy-Based Metabolomics in Epithelial Ovarian Cancer: Challenges, Methodological Advances and Translational Considerations.Diagnostics (Basel, Switzerland) · 2026Review
- Deciphering the Pleiotropic Role ofCells · 2026Article
- The role of circulating tumor DNA in ovarian cancer.Discover oncology · 2026Review
- STAT1 and STAT3 signaling in ovarian cancer: prognostic biomarkers and therapeutic targets.BMC cancer · 2026Article
- Cancer-like Hallmarks of Endometriosis: The Role of Estrogen Signaling and Stem Cell Plasticity.International journal of molecular sciences · 2026Review
830 more citing papers are in PubMed but not listed here.
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44 authors at 8 institutions in 3 countries.
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Abstract
backgroundOvarian clear-cell and endometrioid carcinomas may arise from endometriosis, but the molecular events involved in this transformation have not been described.
methodsWe sequenced the whole transcriptomes of 18 ovarian clear-cell carcinomas and 1 ovarian clear-cell carcinoma cell line and found somatic mutations in ARID1A (the AT-rich interactive domain 1A [SWI-like] gene) in 6 of the samples. ARID1A encodes BAF250a, a key component of the SWI–SNF chromatin remodeling complex. We sequenced ARID1A in an additional 210 ovarian carcinomas and a second ovarian clear-cell carcinoma cell line and measured BAF250a expression by means of immunohistochemical analysis in an additional 455 ovarian carcinomas.
resultsARID1A mutations were seen in 55 of 119 ovarian clear-cell carcinomas (46%), 10 of 33 endometrioid carcinomas (30%), and none of the 76 high-grade serous ovarian carcinomas. Seventeen carcinomas had two somatic mutations each. Loss of the BAF250a protein correlated strongly with the ovarian clear-cell carcinoma and endometrioid carcinoma subtypes and the presence of ARID1A mutations. In two patients, ARID1A mutations and loss of BAF250a expression were evident in the tumor and contiguous atypical endometriosis but not in distant endometriotic lesions.
conclusionsThese data implicate ARID1A as a tumor-suppressor gene frequently disrupted in ovarian clear-cell and endometrioid carcinomas. Since ARID1A mutation and loss of BAF250a can be seen in the preneoplastic lesions, we speculate that this is an early event in the transformation of endometriosis into cancer. (Funded by the British Columbia Cancer Foundation and the Vancouver General Hospital–University of British Columbia Hospital Foundation.).
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