The DOI matches its Crossref record; 8 of the 8 references it cites were found in a registry or an index.
Somatic SETBP1 mutations in myeloid malignancies
Open accessAbstract
Here we report whole-exome sequencing of individuals with various myeloid malignancies and identify recurrent somatic mutations in SETBP1, consistent with a recent report on atypical chronic myeloid leukemia (aCML). Closely positioned somatic SETBP1 mutations encoding changes in Asp868, Ser869, Gly870, Ile871 and Asp880, which match germline mutations in Schinzel-Giedion syndrome (SGS), were detected in 17% of secondary acute myeloid leukemias (sAML) and 15% of chronic myelomonocytic leukemia (CMML) cases. These results from deep sequencing demonstrate a higher mutational detection rate than reported with conventional sequencing methodology. Mutant cases were associated with advanced age and monosomy 7/deletion 7q (–7/del(7q)) constituting poor prognostic factors. Analysis of serially collected samples indicated that SETBP1 mutations were acquired during leukemic evolution. Transduction with mutant Setbp1 led to the immortalization of mouse myeloid progenitors that showed enhanced proliferative capacity compared to cells transduced with wild-type Setbp1. Somatic mutations of SETBP1 seem to cause gain of function, are associated with myeloid leukemic transformation and convey poor prognosis in myelodysplastic syndromes (MDS) and CMML.
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
International scoring system for evaluating prognosis in myelodysplastic syndromes
Greenberg, P., Cox, C., LeBeau, M. M., Fenaux, P., Morel, P., Sanz, G., Sanz, M., Vallespi, T., Hamblin, T., Oscier, D., et al. (1997) · Blood · doi:10.1182/blood.v89.6.2079 · Cited by 4,427
Recurring mutations found by sequencing an acute myeloid leukemia genome
Mardis, E. R., Ding, L., Dooling, D. J., Larson, D. E., McLellan, M. D., Chen, K., Koboldt, D. C., Fulton, R. S., Delehaunty, K. D., McGrath, S. D., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0903840 · Cited by 2,219
Frequent pathway mutations of splicing machinery in myelodysplasia
Yoshida, K., Sanada, M., Shiraishi, Y., Nowak, D., Nagata, Y., Yamamoto, R., Sato, Y., Sato-Otsubo, A., Kon, A., Nagasaki, M., et al. (2011) · Nature · doi:10.1038/nature10496 · Cited by 2,029
Self-citationDNMT3A Mutations in Acute Myeloid Leukemia
Ley, T. J., Ding, L., Walter, M. J., McLellan, M. D., Lamprecht, T., Larson, D. E., Kandoth, C., Payton, J. E., Baty, J., Welch, J., et al. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa1005143 · Cited by 1,983
Mutation in TET2 in Myeloid Cancers
Delhommeau, F., Dupont, S., Valle, V. D., James, C., Trannoy, S., Massé, A., Kosmider, O., Le Couedic, J.-P., Robert, F., Alberdi, A., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0810069 · Cited by 1,776
Somatic SF3B1 Mutation in Myelodysplasia with Ring Sideroblasts
Papaemmanuil, E., Cazzola, M., Boultwood, J., Malcovati, L., Vyas, P., Bowen, D., Pellagatti, A., Wainscoat, J. S., Hellstrom-Lindberg, E., Gambacorti-Passerini, C., et al. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa1103283 · Cited by 1,222
Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders
Ernst, T., Chase, A. J., Score, J., Hidalgo-Curtis, C. E., Bryant, C., Jones, A. V., Waghorn, K., Zoi, K., Ross, F. M., Reiter, A., et al. (2010) · Nature Genetics · doi:10.1038/ng.621 · Cited by 1,139
Clonal diversity of recurrently mutated genes in myelodysplastic syndromes
Walter, M. J., Shen, D., Shao, J., Ding, L., White, B. S., Kandoth, C., Miller, C. A., Niu, B., McLellan, M. D., Dees, N. D., et al. (2013) · Leukemia · doi:10.1038/leu.2013.58 · Cited by 284
Cited by
Breast Cancer, Version 4.2017, NCCN Clinical Practice Guidelines in Oncology
Gradishar, W. J., Anderson, B. O., Balassanian, R., Blair, S. L., Burstein, H. J., Cyr, A., Elias, A. D., Farrar, W. B., Forero, A., Giordano, S. H., et al. (2018) · Journal of the National Comprehensive Cancer Network · doi:10.6004/jnccn.2018.0012 · Cited by 1,609
Coe, B. P., Witherspoon, K., Rosenfeld, J. A., van Bon, B. W. M., Vulto-van Silfhout, A. T., Bosco, P., Friend, K. L., Baker, C., Buono, S., Vissers, L. E. L. M., et al. (2014) · Nature Genetics · doi:10.1038/ng.3092 · Cited by 720
Dynamics of clonal evolution in myelodysplastic syndromes
Makishima, H., Yoshizato, T., Yoshida, K., Sekeres, M. A., Radivoyevitch, T., Suzuki, H., Przychodzen, B., Nagata, Y., Meggendorfer, M., Sanada, M., et al. (2017) · Nature Genetics · doi:10.1038/ng.3742 · Cited by 422
Self-citationRecurrent SETBP1 mutations in atypical chronic myeloid leukemia
Piazza, R., Valletta, S., Winkelmann, N., Redaelli, S., Spinelli, R., Pirola, A., Antolini, L., Mologni, L., Donadoni, C., Papaemmanuil, E., et al. (2013) · Nature Genetics · doi:10.1038/ng.2495 · Cited by 403
Kar, S. P., Quiros, P. M., Gu, M., Jiang, T., Mitchell, J., Langdon, R., Iyer, V., Barcena, C., Vijayabaskar, M. S., Fabre, M. A., et al. (2022) · Nature Genetics · doi:10.1038/s41588-022-01121-z · Cited by 377
Metadata
- Authors
- Makishima, H., Yoshida, K., Nguyen, N., Przychodzen, B., Sanada, M., Okuno, Y., Ng, K. P., Gudmundsson, K. O., Vishwakarma, B. A., Jerez, A., Gomez-Segui, I., Takahashi, M., Shiraishi, Y., Nagata, Y., Guinta, K., Mori, H., Sekeres, M. A., Chiba, K., Tanaka, H., Muramatsu, H., Sakaguchi, H., Paquette, R. L., McDevitt, M. A., Kojima, S., Saunthararajah, Y., Miyano, S., Shih, L.-Y., Du, Y., Ogawa, S., & Maciejewski, J. P.
- Venue
- Nature Genetics
- Published
- 2013-07-07
- Volume
- 45
- Issue
- 8
- Pages
- 942-946
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2086704257
- Cited by
- 257
- References
- 8
- FWCI
- 21.12
- Type
- journal article
- Language
- en
- Open access
- green
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
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.
