The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.
Distinct mutational signatures characterize concurrent loss of polymerase proofreading and mismatch repair
Open accessAbstract
Fidelity of DNA replication is maintained using polymerase proofreading and the mismatch repair pathway. Tumors with loss of function of either mechanism have elevated mutation rates with characteristic mutational signatures. Here we report that tumors with concurrent loss of both polymerase proofreading and mismatch repair function have mutational patterns that are not a simple sum of the signatures of the individual alterations, but correspond to distinct, previously unexplained signatures: COSMIC database signatures 14 and 20. We then demonstrate that in all five cases in which the chronological order of events could be determined, polymerase epsilon proofreading alterations precede the defect in mismatch repair. Overall, we illustrate that multiple distinct mutational signatures can result from different combinations of a smaller number of mutational processes (of either damage or repair), which can influence the interpretation and discovery of mutational signatures.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
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
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
Van der Auwera, G. A., Carneiro, M. O., Hartl, C., Poplin, R., del Angel, G., Levy‐Moonshine, A., Jordan, T., Shakir, K., Roazen, D., Thibault, J., et al. (2013) · Current Protocols in Bioinformatics · doi:10.1002/0471250953.bi1110s43 · Cited by 6,687
Mutational heterogeneity in cancer and the search for new cancer-associated genes
Lawrence, M. S., Stojanov, P., Polak, P., Kryukov, G. V., Cibulskis, K., Sivachenko, A., Carter, S. L., Stewart, C., Mermel, C. H., Roberts, S. A., et al. (2013) · Nature · doi:10.1038/nature12213 · Cited by 5,461
Self-citationBouffet, E., Larouche, V., Campbell, B. B., Merico, D., de Borja, R., Aronson, M., Durno, C., Krueger, J., Cabric, V., Ramaswamy, V., et al. (2016) · Journal of Clinical Oncology · doi:10.1200/jco.2016.66.6552 · Cited by 857
Clonal status of actionable driver events and the timing of mutational processes in cancer evolution
McGranahan, N., Favero, F., de Bruin, E. C., Birkbak, N. J., Szallasi, Z., & Swanton, C. (2015) · Science Translational Medicine · doi:10.1126/scitranslmed.aaa1408 · Cited by 685
Cited by
The repertoire of mutational signatures in human cancer
Alexandrov, L. B., Kim, J., Haradhvala, N. J., Huang, M. N., Tian Ng, A. W., Wu, Y., Boot, A., Covington, K. R., Gordenin, D. A., Bergstrom, E. N., et al. (2020) · Nature · doi:10.1038/s41586-020-1943-3 · Cited by 3,496
Self-citationNext-generation characterization of the Cancer Cell Line Encyclopedia
Ghandi, M., Huang, F. W., Jané-Valbuena, J., Kryukov, G. V., Lo, C. C., McDonald, E. R., Barretina, J., Gelfand, E. T., Bielski, C. M., Li, H., et al. (2019) · Nature · doi:10.1038/s41586-019-1186-3 · Cited by 3,394
Self-citationInterpretation of somatic POLE mutations in endometrial carcinoma
León‐Castillo, A., Britton, H., McConechy, M. K., McAlpine, J. N., Nout, R., Kommoss, S., Brucker, S. Y., Carlson, J. W., Epstein, E., Rau, T. T., et al. (2020) · The Journal of Pathology · doi:10.1002/path.5372 · Cited by 409
Uncovering novel mutational signatures by de novo extraction with SigProfilerExtractor
Islam, S. M. A., Díaz-Gay, M., Wu, Y., Barnes, M., Vangara, R., Bergstrom, E. N., He, Y., Vella, M., Wang, J., Teague, J. W., et al. (2022) · Cell Genomics · doi:10.1016/j.xgen.2022.100179 · Cited by 365
Scaling computational genomics to millions of individuals with GPUs
Taylor-Weiner, A., Aguet, F., Haradhvala, N. J., Gosai, S., Anand, S., Kim, J., Ardlie, K., Van Allen, E. M., & Getz, G. (2019) · Genome Biology · doi:10.1186/s13059-019-1836-7 · Cited by 298
Self-citation
Metadata
- Authors
- Haradhvala, N. J., Kim, J., Maruvka, Y. E., Polak, P., Rosebrock, D., Livitz, D., Hess, J. M., Leshchiner, I., Kamburov, A., Mouw, K. W., Lawrence, M. S., & Getz, G.
- Venue
- Nature Communications
- Published
- 2018-05-01
- Volume
- 9
- Issue
- 1
- Pages
- 1746-1746
- ISSN
- 2041-1723 (ISSN-L)
- OpenAlex
- W2799563655
- Cited by
- 183
- References
- 7
- FWCI
- 6.16
- Type
- journal article
- Language
- en
- Open access
- gold
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Distinct mutational signatures characterize concurrent loss of polymerase proofreading and mismatch repair. https://app.cochat.ai/papers/10.1038/s41467-018-04002-4
- The paper
- Haradhvala, N. J., Kim, J., Maruvka, Y. E., Polak, P., Rosebrock, D., Livitz, D., Hess, J. M., Leshchiner, I., Kamburov, A., Mouw, K. W., Lawrence, M. S., & Getz, G. (2018). Distinct mutational signatures characterize concurrent loss of polymerase proofreading and mismatch repair. Nature Communications. https://doi.org/10.1038/s41467-018-04002-4
Data sources
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.
