The DOI matches its Crossref record; 35 of the 35 references it cites were found in a registry or an index.
Recurrent Somatic DICER1 Mutations in Nonepithelial Ovarian Cancers
Open accessAbstract
BACKGROUND: Germline truncating mutations in DICER1, an endoribonuclease in the RNase III family that is essential for processing microRNAs, have been observed in families with the pleuropulmonary blastoma-family tumor and dysplasia syndrome. Mutation carriers are at risk for nonepithelial ovarian tumors, notably sex cord-stromal tumors. METHODS: We sequenced the whole transcriptomes or exomes of 14 nonepithelial ovarian tumors and noted closely clustered mutations in the region of DICER1 encoding the RNase IIIb domain of DICER1 in four samples. We then sequenced this region of DICER1 in additional ovarian tumors and in certain other tumors and queried the effect of the mutations on the enzymatic activity of DICER1 using in vitro RNA cleavage assays. RESULTS: DICER1 mutations in the RNase IIIb domain were found in 30 of 102 nonepithelial ovarian tumors (29%), predominantly in Sertoli-Leydig cell tumors (26 of 43, or 60%), including 4 tumors with additional germline DICER1 mutations. These mutations were restricted to codons encoding metal-binding sites within the RNase IIIb catalytic centers, which are critical for microRNA interaction and cleavage, and were somatic in all 16 samples in which germline DNA was available for testing. We also detected mutations in 1 of 14 nonseminomatous testicular germ-cell tumors, in 2 of 5 embryonal rhabdomyosarcomas, and in 1 of 266 epithelial ovarian and endometrial carcinomas. The mutant DICER1 proteins had reduced RNase IIIb activity but retained RNase IIIa activity. CONCLUSIONS: Somatic missense mutations affecting the RNase IIIb domain of DICER1 are common in nonepithelial ovarian tumors. These mutations do not obliterate DICER1 function but alter it in specific cell types, a novel mechanism through which perturbation of microRNA processing may be oncogenic. (Funded by the Terry Fox Research Institute and others.).
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Bartel (2004) · doi:10.1016/s0092-8674(04)00045-5 · Cited by 34,714
(2008) · doi:10.1038/nrg2290 · Cited by 5,199
COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer
Forbes, S. A., Bindal, N., Bamford, S., Cole, C., Kok, C. Y., Beare, D., Jia, M., Shepherd, R., Leung, K., Menzies, A., et al. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkq929 · Cited by 2,278
ARID1A Mutations in Endometriosis-Associated Ovarian Carcinomas
Wiegand, K. C., Shah, S. P., Al-Agha, O. M., Zhao, Y., Tse, K., Zeng, T., Senz, J., McConechy, M. K., Anglesio, M. S., Kalloger, S. E., et al. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa1008433 · Cited by 1,712
Self-citationGnirke, A., Melnikov, A., Maguire, J., Rogov, P., LeProust, E. M., Brockman, W., Fennell, T., Giannoukos, G., Fisher, S., Russ, C., et al. (2009) · Nature Biotechnology · doi:10.1038/nbt.1523 · Cited by 1,433
The genomic complexity of primary human prostate cancer
Berger, M. F., Lawrence, M. S., Demichelis, F., Drier, Y., Cibulskis, K., Sivachenko, A. Y., Sboner, A., Esgueva, R., Pflueger, D., Sougnez, C., et al. (2011) · Nature · doi:10.1038/nature09744 · Cited by 1,234
Single Processing Center Models for Human Dicer and Bacterial RNase III
Zhang, H., Kolb, F. A., Jaskiewicz, L., Westhof, E., & Filipowicz, W. (2004) · Cell · doi:10.1016/j.cell.2004.06.017 · Cited by 1,041
MicroRNA expression profiling of human breast cancer identifies new markers of tumor subtype
Blenkiron, C., Goldstein, L. D., Thorne, N. P., Spiteri, I., Chin, S.-F., Dunning, M. J., Barbosa-Morais, N. L., Teschendorff, A. E., Green, A. R., Ellis, I. O., et al. (2007) · Genome Biology · doi:10.1186/gb-2007-8-10-r214 · Cited by 948
Mutation of FOXL2 in Granulosa-Cell Tumors of the Ovary
Shah, S. P., Köbel, M., Senz, J., Morin, R. D., Clarke, B. A., Wiegand, K. C., Leung, G., Zayed, A., Mehl, E., Kalloger, S. E., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0902542 · Cited by 768
Self-citationDicer, Drosha, and Outcomes in Patients with Ovarian Cancer
Merritt, W. M., Lin, Y. G., Han, L. Y., Kamat, A. A., Spannuth, W. A., Schmandt, R., Urbauer, D., Pennacchio, L. A., Cheng, J.-F., Nick, A. M., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0803785 · Cited by 712
Cited by
MicroRNA therapeutics: towards a new era for the management of cancer and other diseases
Rupaimoole, R., & Slack, F. J. (2017) · Nature Reviews Drug Discovery · doi:10.1038/nrd.2016.246 · Cited by 4,741
Ovarian cancer statistics, 2018
Torre, L. A., Trabert, B., DeSantis, C. E., Miller, K. D., Samimi, G., Runowicz, C. D., Gaudet, M. M., Jemal, A., & Siegel, R. L. (2018) · CA: A Cancer Journal for Clinicians · doi:10.3322/caac.21456 · Cited by 3,492
MicroRNA biogenesis pathways in cancer
Lin, S., & Gregory, R. I. (2015) · Nature Reviews Cancer · doi:10.1038/nrc3932 · Cited by 2,112
Regulatory mechanisms of microRNA expression
Gulyaeva, L. F., & Kushlinskiy, N. E. (2016) · Journal of Translational Medicine · doi:10.1186/s12967-016-0893-x · Cited by 464
A Children's Oncology Group and TARGET initiative exploring the genetic landscape of Wilms tumor
Gadd, S., Huff, V., Walz, A. L., Ooms, A. H. A. G., Armstrong, A. E., Gerhard, D. S., Smith, M. A., Guidry Auvil, J. M., Meerzaman, D., Chen, Q.-R., et al. (2017) · Nature Genetics · doi:10.1038/ng.3940 · Cited by 367
Self-citation
Metadata
- Authors
- Heravi-Moussavi, A., Anglesio, M. S., Cheng, S.-W. G., Senz, J., Yang, W., Prentice, L., Fejes, A. P., Chow, C., Tone, A., Kalloger, S. E., Hamel, N., Roth, A., Ha, G., Wan, A. N. C., Maines-Bandiera, S., Salamanca, C., Pasini, B., Clarke, B. A., Lee, A. F., Lee, C.-H., Zhao, C., Young, R. H., Aparicio, S. A., Sorensen, P. H. B., Woo, M. M. M., Boyd, N., Jones, S. J. M., Hirst, M., Marra, M. A., Gilks, B., Shah, S. P., Foulkes, W. D., Morin, G. B., & Huntsman, D. G.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2012-01-19
- Volume
- 366
- Issue
- 3
- Pages
- 234-242
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2150752820
- Cited by
- 466
- References
- 35
- FWCI
- 35.33
- Type
- journal article
- Language
- en
- Open access
- bronze
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Recurrent Somatic DICER1 Mutations in Nonepithelial Ovarian Cancers. https://app.cochat.ai/papers/10.1056/nejmoa1102903
- The paper
- Heravi-Moussavi, A., Anglesio, M. S., Cheng, S.-W. G., Senz, J., Yang, W., Prentice, L., Fejes, A. P., Chow, C., Tone, A., Kalloger, S. E., Hamel, N., Roth, A., Ha, G., Wan, A. N. C., Maines-Bandiera, S., Salamanca, C., Pasini, B., Clarke, B. A., Lee, A. F., . . . Huntsman, D. G. (2012). Recurrent Somatic DICER1 Mutations in Nonepithelial Ovarian Cancers. New England Journal of Medicine. https://doi.org/10.1056/nejmoa1102903
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
