ArticleFamilial cancer2016
Ovarian tumors related to intronic mutations in DICER1: a report from the international ovarian and testicular stromal tumor registry.
Article in Familial cancer, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01970696 (International Ovarian & Testicular Stromal Tumor Registry), which is not on this map. Cited by 25 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
International Ovarian & Testicular Stromal Tumor Registry
Who cites it
25 citing papers in PubMed, 53 citations in OpenAlex.
- Pathological and clinical insights into DICER1 hotspot mutated Sertoli-Leydig cell tumors: a comparative analysis.Diagnostic pathology · 2025Article
- A Novel Pathogenic Variant of DICER1 Gene in a Young Greek Patient with 2 Different Sex-Cord Ovarian Tumors and Multinodular Goiter.International journal of molecular sciences · 2025Article
- Article
- Intronic GermlineJCO precision oncology · 2023Article
- Article
- Current update on the molecular genetics and management of hereditary ovarian cancers: a primer for radiologists.Abdominal radiology (New York) · 2021Review
- Spectrum ofJournal of clinical medicine · 2021Review
- Germline predisposition to genitourinary rhabdomyosarcoma.Translational andrology and urology · 2020Review
- DICER1 screening in 15 paediatric paratesticular sarcomas unveils an unusual DICER1-associated sarcoma.The journal of pathology. Clinical research · 2020Article
- Gynecologic and reproductive health in patients with pathogenic germline variants in DICER1.Gynecologic oncology · 2020Article
- microRNAs Biogenesis, Functions and Role in Tumor Angiogenesis.Frontiers in oncology · 2020Review
- Expanding the spectrum of dicer1-associated sarcomas.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2020Article
- DICER1 Syndrome and Cancer Predisposition: From a Rare Pediatric Tumor to Lifetime Risk.Frontiers in oncology · 2020Review
- Imaging of DICER1 syndrome.Pediatric radiology · 2019Review
- A family with Sertoli-Leydig cell tumour, multinodular goiter, andCurrent oncology (Toronto, Ont.) · 2019Article
- Germline and Somatic Tumor Testing in Gynecologic Cancer Care.Obstetrics and gynecology clinics of North America · 2019Review
- Novel intronicBMJ case reports · 2019Article
- Cystic renal mass in an infant with significant family history: Answers.Pediatric nephrology (Berlin, Germany) · 2018Article
- DICER1 Syndrome: DICER1 Mutations in Rare Cancers.Cancers · 2018Review
- Clinical cancer research : an official journal of the American Association for Cancer Research · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 5 institutions in 1 country.
Funding
Abstract
Germline DICER1 mutations have been described in individuals with pleuropulmonary blastoma (PPB), ovarian Sertoli-Leydig cell tumor (SLCT), sarcomas, multinodular goiter, thyroid carcinoma, cystic nephroma and other neoplastic conditions. Early results from the International Ovarian and Testicular Stromal Tumor Registry show germline DICER1 mutations in 48 % of girls and women with SLCT. In this report, a young woman presented with ovarian undifferentiated sarcoma. Four years later, she presented with SLCT. She was successfully treated for both malignancies. Sequence results showed a germline intronic mutation in DICER1. This mutation results in an exact duplication of the six bases at the splice site at the intron 23 and exon 24 junction. Predicted improper splicing leads to inclusion of 10 bases of intronic sequence, frameshift and premature truncation of the protein disrupting the RNase IIIb domain. A second individual with SLCT was found to have an identical germline mutation. In each of the ovarian tumors, an additional somatic mutation in the RNase IIIb domain of DICER1 was found. In rare patients, germline intronic mutations in DICER1 that are predicted to cause incorrect splicing can also contribute to the pathogenesis of SLCT.
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What OpenQuestion holds
Registered trials
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.