ArticleNature genetics2014
Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.
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Article in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 177 papers, 3 of them syntheses that pooled it.
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177citing papers in PubMed, 3 pooled it
16.2field-weighted citation impact, top 1% of its field
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Who cites it
177 citing papers in PubMed, 3 syntheses or guidelines pooled it, 379 citations in OpenAlex.
- GBAF, a small BAF sub-complex with big implications: a systematic review.Epigenetics & chromatin · 2020Pooled it
- High expression of SMARCA4 or SMARCA2 is frequently associated with an opposite prognosis in cancer.Scientific reports · 2018Pooled it
- A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Guideline
- Tazemetostat, an EZH2 inhibitor, in solid tumors harboring SWI/SNF alterations: a phase II basket study.Nature communications · 2026Trial
- A phase II basket trial of dual anti-CTLA-4 and anti-PD-1 blockade in rare tumors (DART) SWOG S1609: durable responses and delayed pseudoprogression in small cell carcinoma of the ovary, hypercalcemic type cohort.Cancer communications (London, England) · 2025Trial
- Discovery of SMD-6346: A Potent, Selective, and Orally Active SMARCA2 Degrader for Targeting SMARCA4-Deficient Human Cancers.Journal of medicinal chemistry · 2026Article
- Pregnancy-Associated Small Cell Carcinoma of the Ovary, Hypercalcaemic Type Initially Misdiagnosed as Granulosa Cell Tumour: Diagnostic Pitfalls, Treatment Challenges, and Molecular Confirmation by Next-Generation Sequencing.Cancer reports (Hoboken, N.J.) · 2026Article
- SMARCA4 loss reprograms p300 chromatin occupancy to subvert p53-mediated transcriptional repression in ovarian small cell carcinoma.Nature communications · 2026Article
- PHIP suppresses NuRD to enable the growth of SWI/SNF-mutant cancers.Nature communications · 2026Article
- Clinicopathological and molecular characteristics of small cell carcinoma of the ovary, hypercalcemic type: three case reports.Discover oncology · 2026Article
- SMARCA4/2 loss reduces BCL-xL expression and confers a druggable MCL1 dependency in cancer.NPJ precision oncology · 2026Article
- Stage IV SMARCA4-Deficient Undifferentiated Malignant Neoplasm With Primary Cutaneous Origin and Early Distant Metastases.Case reports in dermatological medicine · 2026Article
- Case Report: Whole genome sequencing of small cell ovarian carcinomas.Frontiers in oncology · 2026Article
- Targeting Ovarian Neoplasms: Subtypes and Therapeutic Options.Medicina (Kaunas, Lithuania) · 2025Review
- Epigenetics in Ovarian Cancer: A Review of Current Knowledge and Future Perspectives.Biomedicines · 2025Review
- Shifted assembly and function of mSWI/SNF family subcomplexes underlie targetable dependencies in dedifferentiated endometrial carcinomas.Nature genetics · 2025Article
- Shifted assembly and function of mSWI/SNF family subcomplexes underlie targetable dependencies in dedifferentiated endometrial carcinomas.bioRxiv : the preprint server for biology · 2025Article
- Small cell carcinoma of the ovary hypercalcemic type (SCCOHT): About three case reports.Gynecologic oncology reports · 2025Article
- Article
- BRG1 Loss Is Frequent in Lung Cancer and Transforms Lung Epithelial Cells via Transcriptional and Epigenetic Reprograming.Cancers · 2025Article
117 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
27 authors at 12 institutions in 4 countries.
Pilar Ramos1] Division of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA. [2].
Anthony N Karnezis1] Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada. [2] Centre for Translational and Applied Genomics, British Columbia Cancer Agency, Vancouver, British Columbia, Canada. [3].
David W CraigDivision of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
Aleksandar Sekulic1] Division of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA. [2] Department of Dermatology, Mayo Clinic, Scottsdale, Arizona, USA.
Megan L RussellDivision of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
William P D HendricksDivision of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
Jason J CorneveauxDivision of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
Michael T BarrettDivision of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
Karey ShumanskyDepartment of Molecular Oncology, British Columbia Cancer Agency, Vancouver, British Columbia, Canada.
Yidong YangDepartment of Molecular Oncology, British Columbia Cancer Agency, Vancouver, British Columbia, Canada.
Sohrab P Shah1] Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada. [2] Department of Molecular Oncology, British Columbia Cancer Agency, Vancouver, British Columbia, Canada.
Leah M PrenticeCentre for Translational and Applied Genomics, British Columbia Cancer Agency, Vancouver, British Columbia, Canada.
Marco A MarraCanada's Michael Smith Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, British Columbia, Canada.
Jeffrey KieferDivision of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
Victoria L ZismannDivision of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
Troy A McEachronDivision of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
Bodour SalhiaDivision of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
Jaime PratDepartment of Pathology, Hospital de la Santa Creu i Sant Pau, Autonomous University of Barcelona, Barcelona, Spain.
Emanuela D'AngeloDepartment of Pathology, Hospital de la Santa Creu i Sant Pau, Autonomous University of Barcelona, Barcelona, Spain.
Blaise A ClarkeDepartment of Pathology, University Health Network, Toronto, Ontario, Canada.
Joseph G PresseyDepartment of Pediatric Hematology-Oncology, Children's Hospital of Alabama, University of Alabama at Birmingham, Birmingham, Alabama, USA.
John H FarleyDivision of Gynecologic Oncology, Department of Obstetrics and Gynecology, Creighton University School of Medicine and St. Joseph's Hospital and Medical Center, Phoenix, Arizona, USA.
Stephen P AnthonyEvergreen Hematology and Oncology, Spokane, Washington, USA.
Richard B S RodenDepartment of Pathology, Johns Hopkins University, Baltimore, Maryland, USA.
Heather E Cunliffe1] Division of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA. [2] Department of Pathology, University of Otago, Dunedin, New Zealand.
David G Huntsman1] Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada. [2] Centre for Translational and Applied Genomics, British Columbia Cancer Agency, Vancouver, British Columbia, Canada. [3] [4].
Jeffrey M Trent1] Division of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA. [2] [3].
Translational Genomics Research Institute · USBC Cancer Agency · CAUniversity of British Columbia · CAArizona State University · USCanada's Michael Smith Genome Sciences Centre · CAChildren's of Alabama · USHospital de Sant Pau · ESJohns Hopkins University · USSt. Joseph's Hospital and Medical Center · USUniversitat Autònoma de Barcelona · ESUniversity Health Network · CAUniversity of Otago · NZ
Funding
Translational Research Central ServicesP30CA006973 · NCI · JOHNS HOPKINS UNIVERSITY · PI Rosalie Wollett · 1985 to 2026
$208.6MNCI NIH HHS P30 CA006973
Abstract
Small cell carcinoma of the ovary of hypercalcemic type (SCCOHT) is an extremely rare, aggressive cancer affecting children and young women. We identified germline and somatic inactivating mutations in the SWI/SNF chromatin-remodeling gene SMARCA4 in 75% (9/12) of SCCOHT cases in addition to SMARCA4 protein loss in 82% (14/17) of SCCOHT tumors but in only 0.4% (2/485) of other primary ovarian tumors. These data implicate SMARCA4 in SCCOHT oncogenesis.
Indexed as
Base SequenceCarcinoma, Small CellChromatin Assembly and DisassemblyChromosome MappingComputational BiologyDNA, ComplementaryDNA HelicasesElectrophoresis, Polyacrylamide GelExomeFemaleGene LibraryHumansImmunohistochemistryMolecular Sequence DataMutationNuclear ProteinsDNA, ComplementaryDNA HelicasesNuclear ProteinsSMARCA4 protein, humanTranscription Factors
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.