The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
Subgroup-specific structural variation across 1,000 medulloblastoma genomes
Open accessAbstract
Medulloblastoma, the most common malignant paediatric brain tumour, is currently treated with nonspecific cytotoxic therapies including surgery, whole-brain radiation, and aggressive chemotherapy. As medulloblastoma exhibits marked intertumoural heterogeneity, with at least four distinct molecular variants, previous attempts to identify targets for therapy have been underpowered because of small samples sizes. Here we report somatic copy number aberrations (SCNAs) in 1,087 unique medulloblastomas. SCNAs are common in medulloblastoma, and are predominantly subgroup-enriched. The most common region of focal copy number gain is a tandem duplication of SNCAIP, a gene associated with Parkinson's disease, which is exquisitely restricted to Group 4α. Recurrent translocations of PVT1, including PVT1-MYC and PVT1-NDRG1, that arise through chromothripsis are restricted to Group 3. Numerous targetable SCNAs, including recurrent events targeting TGF-β signalling in Group 3, and NF-κB signalling in Group 4, suggest future avenues for rational, targeted therapy.
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The Cancer Cell Line Encyclopedia enables predictive modelling of anticancer drug sensitivity
Barretina, J., Caponigro, G., Stransky, N., Venkatesan, K., Margolin, A. A., Kim, S., Wilson, C. J., Lehár, J., Kryukov, G. V., Sonkin, D., et al. (2012) · Nature · doi:10.1038/nature11003 · Cited by 7,950
Self-citationThe landscape of somatic copy-number alteration across human cancers
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Self-citationMassive genomic rearrangement acquired in a single catastrophic event during cancer development
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Molecular subgroups of medulloblastoma: the current consensus
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Intertumoral 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
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Self-citationRisk stratification of childhood medulloblastoma in the molecular era: the current consensus
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Self-citationEnhancer hijacking activates GFI1 family oncogenes in medulloblastoma
Northcott, P. A., Lee, C., Zichner, T., Stütz, A. M., Erkek, S., Kawauchi, D., Shih, D. J. H., Hovestadt, V., Zapatka, M., Sturm, D., et al. (2014) · Nature · doi:10.1038/nature13379 · Cited by 642
Self-citationRevisiting Global Gene Expression Analysis
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Metadata
- Authors
- Northcott, P. A., Shih, D. J. H., Peacock, J., Garzia, L., Sorana Morrissy, A., Zichner, T., Stütz, A. M., Korshunov, A., Reimand, J., Schumacher, S. E., Beroukhim, R., Ellison, D. W., Marshall, C. R., Lionel, A. C., Mack, S., Dubuc, A., Yao, Y., Ramaswamy, V., Luu, B., Rolider, A., Cavalli, F. M. G., Wang, X., Remke, M., Wu, X., Chiu, R. Y. B., Chu, A., Chuah, E., Corbett, R. D., Hoad, G. R., Jackman, S. D., Li, Y., Lo, A., Mungall, K. L., Ming Nip, K., Qian, J. Q., Raymond, A. G. J., Thiessen, N., Varhol, R. J., Birol, I., Moore, R. A., Mungall, A. J., Holt, R., Kawauchi, D., Roussel, M. F., Kool, M., Jones, D. T. W., Witt, H., Fernandez-L, A., Kenney, A. M., Wechsler-Reya, R. J., Dirks, P., Aviv, T., Grajkowska, W. A., Perek-Polnik, M., Haberler, C. C., Delattre, O., Reynaud, S. S., Doz, F. F., Pernet-Fattet, S. S., Cho, B.-K., Kim, S.-K., Wang, K.-C., Scheurlen, W., Eberhart, C. G., Fèvre-Montange, M., Jouvet, A., Pollack, I. F., Fan, X., Muraszko, K. M., Yancey Gillespie, G., Di Rocco, C., Massimi, L., Michiels, E. M. C., Kloosterhof, N. K., French, P. J., Kros, J. M., Olson, J. M., Ellenbogen, R. G., Zitterbart, K., Kren, L., Thompson, R. C., Cooper, M. K., Lach, B., McLendon, R. E., Bigner, D. D., Fontebasso, A., Albrecht, S., Jabado, N., Lindsey, J. C., Bailey, S., Gupta, N., Weiss, W. A., Bognár, L., Klekner, A., Van Meter, T. E., Kumabe, T., Tominaga, T., Elbabaa, S. K., Leonard, J. R., Rubin, J. B., Liau, L. M., Van Meir, E. G., Fouladi, M., Nakamura, H., Cinalli, G., Garami, M., Hauser, P., Saad, A. G., Iolascon, A., Jung, S., Carlotti, C. G., Vibhakar, R., Shin Ra, Y., Robinson, S., Zollo, M., Faria, C. C., Chan, J. A., Levy, M. L., Sorensen, P. H. B., Meyerson, M., Pomeroy, S. L., Cho, Y.-J., Bader, G. D., Tabori, U., Hawkins, C. E., Bouffet, E., Scherer, S. W., Rutka, J. T., Malkin, D., Clifford, S. C., Jones, S. J. M., Korbel, J. O., Pfister, S. M., Marra, M. A., & Taylor, M. D.
- Venue
- Nature
- Published
- 2012-07-25
- Volume
- 488
- Issue
- 7409
- Pages
- 49-56
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W2082080058
- Cited by
- 899
- References
- 6
- FWCI
- 32.89
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Northcott, P. A., Shih, D. J. H., Peacock, J., Garzia, L., Sorana Morrissy, A., Zichner, T., Stütz, A. M., Korshunov, A., Reimand, J., Schumacher, S. E., Beroukhim, R., Ellison, D. W., Marshall, C. R., Lionel, A. C., Mack, S., Dubuc, A., Yao, Y., Ramaswamy, V., Luu, B., . . . Taylor, M. D. (2012). Subgroup-specific structural variation across 1,000 medulloblastoma genomes. Nature. https://doi.org/10.1038/nature11327
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