The DOI matches its Crossref record; 16 of the 16 references it cites were found in a registry or an index.
Comprehensive Analysis of Hypermutation in Human Cancer
Open accessAbstract
Summary We present an extensive assessment of mutation burden through sequencing analysis of >81,000 tumors from pediatric and adult patients, including tumors with hypermutation caused by chemotherapy, carcinogens, or germline alterations. Hypermutation was detected in tumor types not previously associated with high mutation burden. Replication repair deficiency was a major contributing factor. We uncovered new driver mutations in the replication-repair-associated DNA polymerases and a distinct impact of microsatellite instability and replication repair deficiency on the scale of mutation load. Unbiased clustering, based on mutational context, revealed clinically relevant subgroups regardless of the tumors' tissue of origin, highlighting similarities in evolutionary dynamics leading to hypermutation. Mutagens, such as UV light, were implicated in unexpected cancers, including sarcomas and lung tumors. The order of mutational signatures identified previous treatment and germline replication repair deficiency, which improved management of patients and families. These data will inform tumor classification, genetic testing, and clinical trial design.
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Signatures of mutational processes in human cancer
Initiative, A. P. C. G., Alexandrov, L. B., ICGC Breast Cancer Consortium, ICGC MMML-Seq Consortium, PedBrain, I., Nik-Zainal, S., Wedge, D. C., Aparicio, S. A. J. R., Behjati, S., Biankin, A. V., et al. (2013) · Nature · doi:10.1038/nature12477 · Cited by 9,660
Analysis of protein-coding genetic variation in 60,706 humans
Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature · doi:10.1038/nature19057 · Cited by 9,587
PD-1 Blockade in Tumors with Mismatch-Repair Deficiency
Le, D. T., Uram, J. N., Wang, H., Bartlett, B. R., Kemberling, H., Eyring, A. D., Skora, A. D., Luber, B. S., Azad, N. S., Laheru, D., et al. (2015) · New England Journal of Medicine · doi:10.1056/nejmoa1500596 · Cited by 9,377
Comprehensive molecular characterization of human colon and rectal cancer
The Cancer Genome Atlas Network (2012) · Nature · doi:10.1038/nature11252 · Cited by 8,499
Mutational landscape determines sensitivity to PD-1 blockade in non–small cell lung cancer
Rizvi, N. A., Hellmann, M. D., Snyder, A., Kvistborg, P., Makarov, V., Havel, J. J., Lee, W., Yuan, J., Wong, P., Ho, T. S., et al. (2015) · Science · doi:10.1126/science.aaa1348 · Cited by 7,802
Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden
Chalmers, Z. R., Connelly, C. F., Fabrizio, D., Gay, L., Ali, S. M., Ennis, R., Schrock, A., Campbell, B., Shlien, A., Chmielecki, J., et al. (2017) · Genome Medicine · doi:10.1186/s13073-017-0424-2 · Cited by 3,519
Self-citationGenomic classification of cutaneous melanoma
Akbani, R., Akdemir, K. C., Aksoy, B. A., Albert, M., Ally, A., Amin, S. B., Arachchi, H., Arora, A., Auman, J. T., Ayala, B., et al. (2015) · Cell · doi:10.1016/j.cell.2015.05.044 · Cited by 3,151
Genomic correlates of response to CTLA-4 blockade in metastatic melanoma
Van Allen, E. M., Miao, D., Schilling, B., Shukla, S. A., Blank, C., Zimmer, L., Sucker, A., Hillen, U., Geukes Foppen, M. H., Goldinger, S. M., et al. (2015) · Science · doi:10.1126/science.aad0095 · Cited by 2,839
Mechanism-driven biomarkers to guide immune checkpoint blockade in cancer therapy
Topalian, S. L., Taube, J. M., Anders, R. A., & Pardoll, D. M. (2016) · Nature Reviews Cancer · doi:10.1038/nrc.2016.36 · Cited by 2,733
Landscape of somatic mutations in 560 breast cancer whole-genome sequences
Nik-Zainal, S., Davies, H., Staaf, J., Ramakrishna, M., Glodzik, D., Zou, X., Martincorena, I., Alexandrov, L. B., Martin, S., Wedge, D. C., et al. (2016) · Nature · doi:10.1038/nature17676 · Cited by 2,218
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The landscape of genomic alterations across childhood cancers
ICGC PedBrain-Seq Project, Gröbner, S. N., ICGC MMML-Seq Project, Worst, B. C., Weischenfeldt, J., Buchhalter, I., Kleinheinz, K., Rudneva, V. A., Johann, P. D., Balasubramanian, G. P., et al. (2018) · Nature · doi:10.1038/nature25480 · Cited by 1,572
Self-citationPrioritization of cancer therapeutic targets using CRISPR–Cas9 screens
Behan, F. M., Iorio, F., Picco, G., Gonçalves, E., Beaver, C. M., Migliardi, G., Santos, R., Rao, Y., Sassi, F., Pinnelli, M., et al. (2019) · Nature · doi:10.1038/s41586-019-1103-9 · Cited by 1,338
Quantitative Proteomics of the Cancer Cell Line Encyclopedia
Nusinow, D. P., Szpyt, J., Ghandi, M., Rose, C. M., McDonald, E. R., Kalocsay, M., Jané-Valbuena, J., Gelfand, E., Schweppe, D. K., Jedrychowski, M., et al. (2020) · Cell · doi:10.1016/j.cell.2019.12.023 · Cited by 957
Challenges to curing primary brain tumours
Aldape, K., Brindle, K. M., Chesler, L., Chopra, R., Gajjar, A., Gilbert, M. R., Gottardo, N., Gutmann, D. H., Hargrave, D., Holland, E. C., et al. (2019) · Nature Reviews Clinical Oncology · doi:10.1038/s41571-019-0177-5 · Cited by 959
Self-citationTumor Mutational Burden as a Predictive Biomarker in Solid Tumors
Sha, D., Jin, Z., Budczies, J., Kluck, K., Stenzinger, A., & Sinicrope, F. A. (2020) · Cancer Discovery · doi:10.1158/2159-8290.cd-20-0522 · Cited by 859
Metadata
- Authors
- Campbell, B. B., Light, N., Fabrizio, D., Zatzman, M., Fuligni, F., de Borja, R., Davidson, S., Edwards, M., Elvin, J. A., Hodel, K. P., Zahurancik, W. J., Suo, Z., Lipman, T., Wimmer, K., Kratz, C. P., Bowers, D. C., Laetsch, T. W., Dunn, G. P., Johanns, T. M., Grimmer, M. R., Smirnov, I. V., Larouche, V., Samuel, D., Bronsema, A., Osborn, M., Stearns, D., Raman, P., Cole, K. A., Storm, P. B., Yalon, M., Opocher, E., Mason, G., Thomas, G. A., Sabel, M., George, B., Ziegler, D. S., Lindhorst, S., Issai, V. M., Constantini, S., Toledano, H., Elhasid, R., Farah, R., Dvir, R., Dirks, P., Huang, A., Galati, M. A., Chung, J., Ramaswamy, V., Irwin, M. S., Aronson, M., Durno, C., Taylor, M. D., Rechavi, G., Maris, J. M., Bouffet, E., Hawkins, C., Costello, J. F., Meyn, M. S., Pursell, Z. F., Malkin, D., Tabori, U., & Shlien, A.
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 2017-11
- Volume
- 171
- Issue
- 5
- Pages
- 1042-1056.e10
- ISSN
- 0092-8674 (ISSN-L)
- OpenAlex
- W2767034994
- Cited by
- 765
- References
- 16
- FWCI
- 25.22
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Campbell, B. B., Light, N., Fabrizio, D., Zatzman, M., Fuligni, F., de Borja, R., Davidson, S., Edwards, M., Elvin, J. A., Hodel, K. P., Zahurancik, W. J., Suo, Z., Lipman, T., Wimmer, K., Kratz, C. P., Bowers, D. C., Laetsch, T. W., Dunn, G. P., Johanns, T. M., . . . Shlien, A. (2017). Comprehensive Analysis of Hypermutation in Human Cancer. Cell. https://doi.org/10.1016/j.cell.2017.09.048
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