The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas
Open accessAbstract
Through exomic sequencing of 32 intrahepatic cholangiocarcinomas, we discovered frequent inactivating mutations in multiple chromatin-remodeling genes (including BAP1, ARID1A and PBRM1), and mutation in one of these genes occurred in almost half of the carcinomas sequenced. We also identified frequent mutations at previously reported hotspots in the IDH1 and IDH2 genes encoding metabolic enzymes in intrahepatic cholangiocarcinomas. In contrast, TP53 was the most frequently altered gene in a series of nine gallbladder carcinomas. These discoveries highlight the key role of dysregulated chromatin remodeling in intrahepatic cholangiocarcinomas.
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IDH1 and IDH2 Mutations in Gliomas
Yan, H., Parsons, D. W., Jin, G., McLendon, R., Rasheed, B. A., Yuan, W., Kos, I., Batinic-Haberle, I., Jones, S., Riggins, G. J., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0808710 · Cited by 5,847
Self-citationBorger, D. R., Tanabe, K. K., Fan, K. C., Lopez, H. U., Fantin, V. R., Straley, K. S., Schenkein, D. P., Hezel, A. F., Ancukiewicz, M., Liebman, H. M., et al. (2012) · The Oncologist · doi:10.1634/theoncologist.2011-0386 · Cited by 728
Wang, P., Dong, Q., Zhang, C., Kuan, P.-F., Liu, Y., Jeck, W. R., Andersen, J. B., Jiang, W., Savich, G. L., Tan, T.-X., et al. (2013) · Oncogene · doi:10.1038/onc.2012.315 · Cited by 399
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Cholangiocarcinoma 2020: the next horizon in mechanisms and management
Banales, J. M., Marin, J. J. G., Lamarca, A., Rodrigues, P. M., Khan, S. A., Roberts, L. R., Cardinale, V., Carpino, G., Andersen, J. B., Braconi, C., et al. (2020) · Nature Reviews Gastroenterology & Hepatology · doi:10.1038/s41575-020-0310-z · Cited by 2,411
Self-citationCholangiocarcinoma — evolving concepts and therapeutic strategies
Ilyas, S. I., Khan, S. A., Hallemeier, C. L., Kelley, R. K., & Gores, G. J. (2018) · Nature Reviews Clinical Oncology · doi:10.1038/nrclinonc.2017.157 · Cited by 1,626
Self-citationHuman primary liver cancer–derived organoid cultures for disease modeling and drug screening
Broutier, L., Mastrogiovanni, G., Verstegen, M. M., Francies, H. E., Gavarró, L. M., Bradshaw, C. R., Allen, G. E., Arnes-Benito, R., Sidorova, O., Gaspersz, M. P., et al. (2017) · Nature Medicine · doi:10.1038/nm.4438 · Cited by 1,471
“Notably, we found nonsense mutations (frameshifts or 368 stop-gains) in the chromatin remodelling genes ARID1A (HCC-3 and CC-1), ARID2 (HCC-3) 369 and BAP1 (CHC-1), in agreement with previous reports that have highlighted the importance 370 of these genes in both types of primary liver cancers [56, 57] (Fig.”
Banales, J. M., Cardinale, V., Carpino, G., Marzioni, M., Andersen, J. B., Invernizzi, P., Lind, G. E., Folseraas, T., Forbes, S. J., Fouassier, L., et al. (2016) · Nature Reviews Gastroenterology & Hepatology · doi:10.1038/nrgastro.2016.51 · Cited by 1,376
BAP1 links metabolic regulation of ferroptosis to tumour suppression
Zhang, Y., Shi, J., Liu, X., Feng, L., Gong, Z., Koppula, P., Sirohi, K., Li, X., Wei, Y., Lee, H., et al. (2018) · Nature Cell Biology · doi:10.1038/s41556-018-0178-0 · Cited by 1,013
Metadata
- Authors
- Jiao, Y., Pawlik, T. M., Anders, R. A., Selaru, F. M., Streppel, M. M., Lucas, D. J., Niknafs, N., Guthrie, V. B., Maitra, A., Argani, P., Offerhaus, G. J. A., Roa, J. C., Roberts, L. R., Gores, G. J., Popescu, I., Alexandrescu, S. T., Dima, S., Fassan, M., Simbolo, M., Mafficini, A., Capelli, P., Lawlor, R. T., Ruzzenente, A., Guglielmi, A., Tortora, G., de Braud, F., Scarpa, A., Jarnagin, W., Klimstra, D., Karchin, R., Velculescu, V. E., Hruban, R. H., Vogelstein, B., Kinzler, K. W., Papadopoulos, N., & Wood, L. D.
- Venue
- Nature Genetics
- Published
- 2013-11-03
- Volume
- 45
- Issue
- 12
- Pages
- 1470-1473
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2007555374
- Cited by
- 684
- References
- 3
- FWCI
- 47.30
- Type
- journal article
- Language
- en
- Open access
- green
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- CoChat. (2026). Citation check: Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas. https://app.cochat.ai/papers/10.1038/ng.2813
- The paper
- Jiao, Y., Pawlik, T. M., Anders, R. A., Selaru, F. M., Streppel, M. M., Lucas, D. J., Niknafs, N., Guthrie, V. B., Maitra, A., Argani, P., Offerhaus, G. J. A., Roa, J. C., Roberts, L. R., Gores, G. J., Popescu, I., Alexandrescu, S. T., Dima, S., Fassan, M., Simbolo, M., . . . Wood, L. D. (2013). Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas. Nature Genetics. https://doi.org/10.1038/ng.2813
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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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