The DOI matches its Crossref record; 5 of the 5 references it cites were found in a registry or an index.
Somatic mutations in the chromatin remodeling gene ARID1A occur in several tumor types
Open accessAbstract
Mutations in the chromatin remodeling gene ARID1A have recently been identified in the majority of ovarian clear cell carcinomas (OCCCs). To determine the prevalence of mutations in other tumor types, we evaluated 759 malignant neoplasms including those of the pancreas, breast, colon, stomach, lung, prostate, brain, and blood (leukemias). We identified truncating mutations in 6% of the neoplasms studied; nontruncating somatic mutations were identified in an additional 0.4% of neoplasms. Mutations were most commonly found in gastrointestinal samples with 12 of 119 (10%) colorectal and 10 of 100 (10%) gastric neoplasms, respectively, harboring changes. More than half of the mutated colorectal and gastric cancers displayed microsatellite instability (MSI) and the mutations in these tumors were out-of-frame insertions or deletions at mononucleotide repeats. Mutations were also identified in 2-8% of tumors of the pancreas, breast, brain (medulloblastomas), prostate, and lung, and none of these tumors displayed MSI. These findings suggest that the aberrant chromatin remodeling consequent to ARID1A inactivation contributes to a variety of different types of neoplasms.
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Cites
An Integrated Genomic Analysis of Human Glioblastoma Multiforme
Parsons, D. W., Jones, S., Zhang, X., Lin, J. C.-H., Leary, R. J., Angenendt, P., Mankoo, P., Carter, H., Siu, I.-M., Gallia, G. L., et al. (2008) · Science · doi:10.1126/science.1164382 · Cited by 5,857
Self-citationIDH1 and IDH2 Mutations in Gliomas
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Self-citationARID1A 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-citationFrequent mutation of histone-modifying genes in non-Hodgkin lymphoma
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Self-citationSystematic sequencing of renal carcinoma reveals inactivation of histone modifying genes
Dalgliesh, G. L., Furge, K., Greenman, C., Chen, L., Bignell, G., Butler, A., Davies, H., Edkins, S., Hardy, C., Latimer, C., et al. (2010) · Nature · doi:10.1038/nature08672 · Cited by 1,173
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Self-citationPancreatic cancer genomes reveal aberrations in axon guidance pathway genes
Initiative, A. P. C. G., Biankin, A. V., Waddell, N., Kassahn, K. S., Gingras, M.-C., Muthuswamy, L. B., Johns, A. L., Miller, D. K., Wilson, P. J., Patch, A.-M., et al. (2012) · Nature · doi:10.1038/nature11547 · Cited by 2,058
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Metadata
- Authors
- Jones, S., Li, M., Parsons, D. W., Zhang, X., Wesseling, J., Kristel, P., Schmidt, M. K., Markowitz, S., Yan, H., Bigner, D., Hruban, R. H., Eshleman, J. R., Iacobuzio‐Donahue, C. A., Goggins, M., Maitra, A., Malek, S. N., Powell, S., Vogelstein, B., Kinzler, K. W., Velculescu, V. E., & Papadopoulos, N.
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 2011-11-23
- Volume
- 33
- Issue
- 1
- Pages
- 100-103
- ISSN
- 1059-7794 (ISSN-L)
- 1098-1004
- OpenAlex
- W2002218976
- Cited by
- 285
- References
- 5
- FWCI
- 11.76
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Jones, S., Li, M., Parsons, D. W., Zhang, X., Wesseling, J., Kristel, P., Schmidt, M. K., Markowitz, S., Yan, H., Bigner, D., Hruban, R. H., Eshleman, J. R., Iacobuzio‐Donahue, C. A., Goggins, M., Maitra, A., Malek, S. N., Powell, S., Vogelstein, B., Kinzler, K. W., . . . Papadopoulos, N. (2012). Somatic mutations in the chromatin remodeling gene ARID1A occur in several tumor types. Human Mutation. https://doi.org/10.1002/humu.21633
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