The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
Genome Sequencing of SHH Medulloblastoma Predicts Genotype-Related Response to Smoothened Inhibition
Open accessAbstract
Summary Smoothened (SMO) inhibitors recently entered clinical trials for sonic-hedgehog-driven medulloblastoma (SHH-MB). Clinical response is highly variable. To understand the mechanism(s) of primary resistance and identify pathways cooperating with aberrant SHH signaling, we sequenced and profiled a large cohort of SHH-MBs (n = 133). SHH pathway mutations involved PTCH1 (across all age groups), SUFU (infants, including germline), and SMO (adults). Children >3 years old harbored an excess of downstream MYCN and GLI2 amplifications and frequent TP53 mutations, often in the germline, all of which were rare in infants and adults. Functional assays in different SHH-MB xenograft models demonstrated that SHH-MBs harboring a PTCH1 mutation were responsive to SMO inhibition, whereas tumors harboring an SUFU mutation or MYCN amplification were primarily resistant.
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Molecular subgroups of medulloblastoma: the current consensus
Taylor, M. D., Northcott, P. A., Korshunov, A., Remke, M., Cho, Y.-J., Clifford, S. C., Eberhart, C. G., Parsons, D. W., Rutkowski, S., Gajjar, A., et al. (2012) · Acta Neuropathologica · doi:10.1007/s00401-011-0922-z · Cited by 1,936
Self-citationThe origin and evolution of mutations in acute myeloid leukemia
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Dissecting the genomic complexity underlying medulloblastoma
Jones, D. T. W., Jäger, N., Kool, M., Zichner, T., Hutter, B., Sultan, M., Cho, Y.-J., Pugh, T. J., Hovestadt, V., Stütz, A. M., et al. (2012) · Nature · doi:10.1038/nature11284 · Cited by 839
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Self-citationIntertumoral Heterogeneity within Medulloblastoma Subgroups
Cavalli, F. M. G., Remke, M., Rampasek, L., Peacock, J., Shih, D. J. H., Luu, B., Garzia, L., Torchia, J., Nor, C., Morrissy, A. S., et al. (2017) · Cancer Cell · doi:10.1016/j.ccell.2017.05.005 · Cited by 1,219
Self-citationThe whole-genome landscape of medulloblastoma subtypes
Northcott, P. A., Buchhalter, I., Morrissy, A. S., Hovestadt, V., Weischenfeldt, J., Ehrenberger, T., Gröbner, S., Segura-Wang, M., Zichner, T., Rudneva, V. A., et al. (2017) · Nature · doi:10.1038/nature22973 · Cited by 1,112
Self-citationRisk stratification of childhood medulloblastoma in the molecular era: the current consensus
Ramaswamy, V., Remke, M., Bouffet, E., Bailey, S., Clifford, S. C., Doz, F., Kool, M., Dufour, C., Vassal, G., Milde, T., et al. (2016) · Acta Neuropathologica · doi:10.1007/s00401-016-1569-6 · Cited by 654
Self-citationCancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome
Kratz, C. P., Achatz, M. I., Brugières, L., Frebourg, T., Garber, J. E., Greer, M.-L. C., Hansford, J. R., Janeway, K. A., Kohlmann, W. K., McGee, R., et al. (2017) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-17-0408 · Cited by 534
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Metadata
- Authors
- Kool, M., Jones, D. T. W., Jäger, N., Northcott, P. A., Pugh, T. J., Hovestadt, V., Piro, R. M., Esparza, L. A., Markant, S. L., Remke, M., Milde, T., Bourdeaut, F., Ryzhova, M., Sturm, D., Pfaff, E., Stark, S., Hutter, S., Şeker-Cin, H., Johann, P., Bender, S., Schmidt, C., Rausch, T., Shih, D., Reimand, J., Sieber, L., Wittmann, A., Linke, L., Witt, H., Weber, U. D., Zapatka, M., König, R., Beroukhim, R., Bergthold, G., van Sluis, P., Volckmann, R., Koster, J., Versteeg, R., Schmidt, S., Wolf, S., Lawerenz, C., Bartholomae, C. C., von Kalle, C., Unterberg, A., Herold-Mende, C., Hofer, S., Kulozik, A. E., von Deimling, A., Scheurlen, W., Felsberg, J., Reifenberger, G., Hasselblatt, M., Crawford, J. R., Grant, G. A., Jabado, N., Perry, A., Cowdrey, C., Croul, S., Zadeh, G., Korbel, J. O., Doz, F., Delattre, O., Bader, G. D., McCabe, M. G., Collins, V. P., Kieran, M. W., Cho, Y.-J., Pomeroy, S. L., Witt, O., Brors, B., Taylor, M. D., Schüller, U., Korshunov, A., Eils, R., Wechsler-Reya, R. J., Lichter, P., & Pfister, S. M.
- Venue
- Cancer Cell
- Publisher
- Elsevier BV
- Published
- 2014-03
- Volume
- 25
- Issue
- 3
- Pages
- 393-405
- ISSN
- 1535-6108 (ISSN-L)
- OpenAlex
- W2084667421
- Cited by
- 762
- References
- 3
- FWCI
- 29.20
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Kool, M., Jones, D. T. W., Jäger, N., Northcott, P. A., Pugh, T. J., Hovestadt, V., Piro, R. M., Esparza, L. A., Markant, S. L., Remke, M., Milde, T., Bourdeaut, F., Ryzhova, M., Sturm, D., Pfaff, E., Stark, S., Hutter, S., Şeker-Cin, H., Johann, P., . . . Pfister, S. M. (2014). Genome Sequencing of SHH Medulloblastoma Predicts Genotype-Related Response to Smoothened Inhibition. Cancer Cell. https://doi.org/10.1016/j.ccr.2014.02.004
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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