The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.
Ordering of mutations in preinvasive disease stages of esophageal carcinogenesis
Open accessAbstract
Cancer genome sequencing studies have identified numerous driver genes, but the relative timing of mutations in carcinogenesis remains unclear. The gradual progression from premalignant Barrett's esophagus to esophageal adenocarcinoma (EAC) provides an ideal model to study the ordering of somatic mutations. We identified recurrently mutated genes and assessed clonal structure using whole-genome sequencing and amplicon resequencing of 112 EACs. We next screened a cohort of 109 biopsies from 2 key transition points in the development of malignancy: benign metaplastic never-dysplastic Barrett's esophagus (NDBE; n = 66) and high-grade dysplasia (HGD; n = 43). Unexpectedly, the majority of recurrently mutated genes in EAC were also mutated in NDBE. Only TP53 and SMAD4 mutations occurred in a stage-specific manner, confined to HGD and EAC, respectively. Finally, we applied this knowledge to identify high-risk Barrett's esophagus in a new non-endoscopic test. In conclusion, mutations in EAC driver genes generally occur exceptionally early in disease development with profound implications for diagnostic and therapeutic strategies.
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Cites
Intratumor Heterogeneity and Branched Evolution Revealed by Multiregion Sequencing
Gerlinger, M., Rowan, A. J., Horswell, S., Larkin, J., Endesfelder, D., Gronroos, E., Martinez, P., Matthews, N., Stewart, A., Tarpey, P., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1113205 · Cited by 7,774
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Analysis of Circulating Tumor DNA to Monitor Metastatic Breast Cancer
Dawson, S.-J., Tsui, D. W. Y., Murtaza, M., Biggs, H., Rueda, O. M., Chin, S.-F., Dunning, M. J., Gale, D., Forshew, T., Mahler-Araujo, B., et al. (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1213261 · Cited by 2,207
Self-citationThe clonal and mutational evolution spectrum of primary triple-negative breast cancers
Shah, S. P., Roth, A., Goya, R., Oloumi, A., Ha, G., Zhao, Y., Turashvili, G., Ding, J., Tse, K., Haffari, G., et al. (2012) · Nature · doi:10.1038/nature10933 · Cited by 1,967
Self-citationThe Life History of 21 Breast Cancers
Nik-Zainal, S., Van Loo, P., Wedge, D. C., Alexandrov, L. B., Greenman, C. D., Lau, K. W., Raine, K., Jones, D., Marshall, J., Ramakrishna, M., et al. (2012) · Cell · doi:10.1016/j.cell.2012.04.023 · Cited by 1,443
Self-citationEvaluation of DNA from the Papanicolaou test to detect ovarian and endometrial cancers.
Kinde, I., Bettegowda, C., Wang, Y., Wu, J., Agrawal, N., Shih, I.-M., Kurman, R., Dao, F., Levine, D. A., Giuntoli, R., et al. (2013) · Science Translational Medicine · doi:10.1126/scitranslmed.3004952 · Cited by 327
Cited by
Somatic mutation in cancer and normal cells
Martincorena, I., & Campbell, P. J. (2015) · Science · doi:10.1126/science.aab4082 · Cited by 1,396
A compendium of mutational cancer driver genes
Martínez-Jiménez, F., Muiños, F., Sentís, I., Deu-Pons, J., Reyes-Salazar, I., Arnedo-Pac, C., Mularoni, L., Pich, O., Bonet, J., Kranas, H., et al. (2020) · Nature Reviews Cancer · doi:10.1038/s41568-020-0290-x · Cited by 1,296
Biological and therapeutic impact of intratumor heterogeneity in cancer evolution
McGranahan, N., & Swanton, C. (2015) · Cancer Cell · doi:10.1016/j.ccell.2014.12.001 · Cited by 1,077
Smyth, E. C., Lagergren, J., Fitzgerald, R. C., Lordick, F., Shah, M. A., Lagergren, P., & Cunningham, D. (2017) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2017.48 · Cited by 1,012
Self-citationTumor initiation and early tumorigenesis: molecular mechanisms and interventional targets
Zhang, S., Xiao, X., Yi, Y., Wang, X., Zhu, L., Shen, Y., Lin, D., & Wu, C. (2024) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-024-01848-7 · Cited by 399
Metadata
- Authors
- the OCCAMS Consortium, Weaver, J. M. J., Ross-Innes, C. S., Shannon, N., Lynch, A. G., Forshew, T., Barbera, M., Murtaza, M., Ong, C.-A. J., Lao-Sirieix, P., Dunning, M. J., Smith, L., Smith, M. L., Anderson, C. L., Carvalho, B., O'Donovan, M., Underwood, T. J., May, A. P., Grehan, N., Hardwick, R., Davies, J., Oloumi, A., Aparicio, S., Caldas, C., Eldridge, M. D., Edwards, P. A. W., Rosenfeld, N., Tavaré, S., & Fitzgerald, R. C.
- Venue
- Nature Genetics
- Published
- 2014-06-22
- Volume
- 46
- Issue
- 8
- Pages
- 837-843
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2117910394
- Cited by
- 348
- References
- 7
- FWCI
- 42.41
- Type
- journal article
- Language
- en
- Open access
- green
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
