The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
The genomic landscape of small intestine neuroendocrine tumors
Open accessAbstract
Small intestine neuroendocrine tumors (SI-NETs) are the most common malignancy of the small bowel. Several clinical trials target PI3K/Akt/mTOR signaling; however, it is unknown whether these or other genes are genetically altered in these tumors. To address the underlying genetics, we analyzed 48 SI-NETs by massively parallel exome sequencing. We detected an average of 0.1 somatic single nucleotide variants (SNVs) per 106 nucleotides (range, 0-0.59), mostly transitions (C>T and A>G), which suggests that SI-NETs are stable cancers. 197 protein-altering somatic SNVs affected a preponderance of cancer genes, including FGFR2, MEN1, HOOK3, EZH2, MLF1, CARD11, VHL, NONO, and SMAD1. Integrative analysis of SNVs and somatic copy number variations identified recurrently altered mechanisms of carcinogenesis: chromatin remodeling, DNA damage, apoptosis, RAS signaling, and axon guidance. Candidate therapeutically relevant alterations were found in 35 patients, including SRC, SMAD family genes, AURKA, EGFR, HSP90, and PDGFR. Mutually exclusive amplification of AKT1 or AKT2 was the most common event in the 16 patients with alterations of PI3K/Akt/mTOR signaling. We conclude that sequencing-based analysis may provide provisional grouping of SI-NETs by therapeutic targets or deregulated pathways.
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Cites
Comprehensive molecular portraits of human breast tumours
The Cancer Genome Atlas Network (2012) · Nature · doi:10.1038/nature11412 · Cited by 12,129
Comprehensive molecular characterization of human colon and rectal cancer
The Cancer Genome Atlas Network (2012) · Nature · doi:10.1038/nature11252 · Cited by 8,499
The landscape of somatic copy-number alteration across human cancers
Beroukhim, R., Mermel, C. H., Porter, D., Wei, G., Raychaudhuri, S., Donovan, J., Barretina, J., Boehm, J. S., Dobson, J., Urashima, M., et al. (2010) · Nature · doi:10.1038/nature08822 · Cited by 4,017
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
Pancreatic 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 · cited 1×
“Axon guidance genes have recently been recognized as tumor suppressors (30).”
Mapping the Hallmarks of Lung Adenocarcinoma with Massively Parallel Sequencing
Imielinski, M., Berger, A. H., Hammerman, P. S., Hernandez, B., Pugh, T. J., Hodis, E., Cho, J., Suh, J., Capelletti, M., Sivachenko, A., et al. (2012) · Cell · doi:10.1016/j.cell.2012.08.029 · Cited by 1,789
Cited by
Rindi, G., Klimstra, D. S., Abedi-Ardekani, B., Asa, S. L., Bosman, F. T., Brambilla, E., Busam, K. J., de Krijger, R. R., Dietel, M., El-Naggar, A. K., et al. (2018) · Modern Pathology · doi:10.1038/s41379-018-0110-y · Cited by 1,163
Sei, Y., Zhao, X., Forbes, J., Szymczak, S., Li, Q., Trivedi, A., Voellinger, M., Joy, G., Feng, J., Whatley, M., et al. (2015) · Gastroenterology · doi:10.1053/j.gastro.2015.04.008 · Cited by 119
Zhang, W., Zhu, Y.-H., Yang, G.-Y., Liu, X., Xia, B., Hu, X., Su, J.-H., & Wang, J.-F. (2018) · Frontiers in Microbiology · doi:10.3389/fmicb.2017.02705 · Cited by 80
McCarthy, A. J., & Chetty, R. (2018) · Journal of Clinical Pathology · doi:10.1136/jclinpath-2018-205095 · Cited by 71
Evolving Concepts and Translational Relevance of Enteroendocrine Cell Biology
Drucker, D. J. (2016) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2015-3449 · Cited by 63
Metadata
- Authors
- Banck, M. S., Kanwar, R., Kulkarni, A. A., Boora, G. K., Metge, F., Kipp, B. R., Zhang, L., Thorland, E. C., Minn, K. T., Tentu, R., Eckloff, B. W., Wieben, E. D., Wu, Y., Cunningham, J. M., Nagorney, D. M., Gilbert, J. A., Ames, M. M., & Beutler, A. S.
- Venue
- Journal of Clinical Investigation
- Published
- 2013-05-15
- Volume
- 123
- Issue
- 6
- Pages
- 2502-2508
- ISSN
- 0021-9738 (ISSN-L)
- OpenAlex
- W2093326954
- Cited by
- 324
- References
- 6
- FWCI
- 18.81
- Type
- journal article
- Language
- en
- Open access
- bronze
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