ArticleNature genetics2014
Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.
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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 230 papers, 4 of them syntheses that pooled it.
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230citing papers in PubMed, 4 pooled it
19.2field-weighted citation impact, top 1% of its field
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Who cites it
230 citing papers in PubMed, 4 syntheses or guidelines pooled it, 493 citations in OpenAlex.
- GBAF, a small BAF sub-complex with big implications: a systematic review.Epigenetics & chromatin · 2020Pooled it
- A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2020Pooled it
- Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis.European journal of human genetics : EJHG · 2018Pooled it
- High expression of SMARCA4 or SMARCA2 is frequently associated with an opposite prognosis in cancer.Scientific reports · 2018Pooled it
- 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
- The roles of chromatin remodeling and 3D genome organization in cancers: from mechanistic insights to emerging treatment options.Molecular cancer · 2026Review
- SMARCA4 loss reprograms p300 chromatin occupancy to subvert p53-mediated transcriptional repression in ovarian small cell carcinoma.Nature communications · 2026Article
- Targeting the CHD3 chromatin remodeler exploits a synthetic lethal vulnerability in dual SMARCA4/SMARCA2-deficient cancers via derepression of PARD3B.NPJ precision oncology · 2026Article
- Co-occurring rare germline DNA repair gene variants in BRCA1/BRCA2 implicated hereditary breast cancer families.NPJ breast cancer · 2026Article
- SMARCA4-deficient carcinoma of the head and neck region: report of 8 new sinonasal and non-sinonasal cases and literature review.Virchows Archiv : an international journal of pathology · 2026Review
- 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
- Long-term remission after multimodal therapy in metastatic small cell carcinoma of the ovary, hypercalcemic type: A case report.Gynecologic oncology reports · 2026Article
- Case Report: Whole genome sequencing of small cell ovarian carcinomas.Frontiers in oncology · 2026Article
- Case Report: Primary ovarian pulmonary-type small cell neuroendocrine carcinoma mimicking benign adnexal torsion: a diagnostic challenge.Frontiers in medicine · 2026Article
- Targeting Ovarian Neoplasms: Subtypes and Therapeutic Options.Medicina (Kaunas, Lithuania) · 2025Review
- Clinicopathological and molecular perspectives on thoracic SMARCA4-deficient undifferentiated tumors and SMARCA4-deficient non-small cell lung carcinomas.Pathologica · 2025Review
- Small cell carcinoma of the ovary, hypercalcemic type complicated by enterocutaneous fistula: a case report.Journal of medical case reports · 2025Article
170 more citing papers are in PubMed but not listed here.
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Authors and funding
42 authors at 20 institutions in 9 countries.
Leora Witkowski1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [3].
Jian Carrot-Zhang1] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [2] McGill University and Génome Québec Innovation Centre, Montreal, Quebec, Canada. [3].
Steffen AlbrechtDepartment of Pathology, Montreal Children's Hospital, McGill University Health Centre, McGill University, Montreal, Quebec, Canada.
Somayyeh Fahiminiya1] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [2] McGill University and Génome Québec Innovation Centre, Montreal, Quebec, Canada.
Nancy Hamel1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Medical Genetics, Research Institute, McGill University Health Centre, Montreal, Quebec, Canada.
Eva TomiakDepartment of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.
David GrynspanDepartment of Pathology and Laboratory Medicine, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.
Emmanouil SaloustrosHereditary Cancer Clinic, Department of Medical Oncology, University Hospital of Heraklion, Heraklion, Greece.
Javad Nadaf1] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [2] McGill University and Génome Québec Innovation Centre, Montreal, Quebec, Canada.
Barbara Rivera1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
Catherine GilpinDepartment of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.
Ester Castellsagué1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
Rachel Silva-Smith1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Medical Genetics, Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital, McGill University, Montreal, Quebec, Canada.
François Plourde1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Medical Genetics, Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital, McGill University, Montreal, Quebec, Canada.
Mona Wu1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
Avi SaskinDepartment of Human Genetics, McGill University, Montreal, Quebec, Canada.
Madeleine Arseneault1] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [2] McGill University and Génome Québec Innovation Centre, Montreal, Quebec, Canada.
Rouzan G Karabakhtsian1] Department of Pathology and Laboratory Medicine, Markey Cancer Center, University of Kentucky, Lexington, Kentucky, USA. [2].
Elizabeth A ReillyDepartment of Pathology and Laboratory Medicine, Markey Cancer Center, University of Kentucky, Lexington, Kentucky, USA.
Frederick R UelandDepartment of Pathology and Laboratory Medicine, Markey Cancer Center, University of Kentucky, Lexington, Kentucky, USA.
Anna MargiolakiHereditary Cancer Clinic, Department of Medical Oncology, University Hospital of Heraklion, Heraklion, Greece.
Kitty PavlakisPathology Department, National and Kapodistrian University of Athens, Athens, Greece.
Sharon M CastellinoDepartment of Pediatrics, Hematology/Oncology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
Janez LamovecDepartment of Pathology, Institute of Oncology, Ljubljana, Slovenia.
Helen J MackayDepartment of Medical Oncology, Princess Margaret Cancer Centre, Toronto, Ontario, Canada.
Lawrence M RothDepartment of Pathology, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Thomas M UlbrightDepartment of Pathology, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Tracey A BenderDepartment of Pathology, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Vassilis GeorgouliasHereditary Cancer Clinic, Department of Medical Oncology, University Hospital of Heraklion, Heraklion, Greece.
Michel LongyInstitut Bergonié, Unité d'Oncogénétique, Bordeaux, France.
Andrew BerchuckDivision of Gynecologic Oncology, Duke University Medical Center, Durham, North Carolina, USA.
Marc TischkowitzDepartment of Medical Genetics, University of Cambridge, Cambridge, UK.
Inga NagelInstitute of Human Genetics, Christian Albrechts University Kiel and University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
Reiner SiebertInstitute of Human Genetics, Christian Albrechts University Kiel and University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
Colin J R StewartSchool for Women's and Infants' Health, University of Western Australia, Perth, Western Australia, Australia.
Jocelyne ArseneauDepartment of Pathology, Royal Victoria Hospital, McGill University Health Centre, McGill University, Montreal, Quebec, Canada.
W Glenn McCluggageDepartment of Pathology, Royal Group of Hospitals Trust, Belfast, UK.
Blaise A ClarkeDepartment of Pathology Laboratory Medicine Program, University Health Network, Toronto, Ontario, Canada.
Yasser Riazalhosseini1] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [2] McGill University and Génome Québec Innovation Centre, Montreal, Quebec, Canada.
Martin HasselblattInstitute of Neuropathology, University Hospital-Münster, Münster, Germany.
Jacek Majewski1] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [2] McGill University and Génome Québec Innovation Centre, Montreal, Quebec, Canada.
William D Foulkes1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Medical Genetics, Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital, McGill University, Montreal, Quebec, Canada. [3] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [4] Department of Medical Genetics, Research Institute, McGill University Health Centre, Montreal, Quebec, Canada.ORCID 0000000174274651
McGill University and Génome Québec Innovation Centre · CACentre For Human Genetics · INIndiana University School of MedicineUniversity Hospital of Heraklion · GRUniversity of Kentucky · USUniversity of Ottawa · CAChristian-Albrechts-Universität zu Kiel · DEJewish General Hospital · CAMcGill University Health Centre · CADuke Medical Center · USInstitut Bergonié · FRInstitute of Oncology Ljubljana · SIMcGill Genome Centre · CAMcGill University · CAMontreal Children's Hospital · CANational and Kapodistrian University of Athens · GRPrincess Margaret Cancer Centre · CARoyal Victoria Regional Health Centre · CAThe University of Western Australia · AUUniversity Health Network · CA
Funding
No grant is acknowledged in the PubMed record.
Abstract
Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is the most common undifferentiated ovarian malignancy in women under 40 years of age. We sequenced the exomes of six individuals from three families with SCCOHT. After discovering segregating deleterious germline mutations in SMARCA4 in all three families, we tested DNA from a fourth affected family, which also carried a segregating SMARCA4 germline mutation. All the familial tumors sequenced harbored either a somatic mutation or loss of the wild-type allele. Immunohistochemical analysis of these cases and additional familial and non-familial cases showed loss of SMARCA4 (BRG1) protein in 38 of 40 tumors overall. Sequencing of cases with available DNA identified at least one germline or somatic deleterious SMARCA4 mutation in 30 of 32 cases. Additionally, the SCCOHT cell line BIN-67 had biallelic deleterious mutations in SMARCA4. Our findings identify alterations in SMARCA4 as the major cause of SCCOHT, which could lead to improvements in genetic counseling and new treatment approaches.
Indexed as
Base SequenceCarcinoma, Small CellCell Line, TumorDNA HelicasesExomeFemaleGene ComponentsHumansImmunoblottingImmunohistochemistryIn Situ Hybridization, FluorescenceMolecular Sequence DataMutationNuclear ProteinsOvarian NeoplasmsSequence Analysis, DNADNA HelicasesNuclear ProteinsSMARCA4 protein, humanTranscription Factors
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