The DOI matches its Crossref record; 9 of the 9 references it cites were found in a registry or an index.
Spectrum of somatic mitochondrial mutations in five cancers
Open accessAbstract
Somatic mtDNA mutations have been reported in some human tumors, but their spectrum in different malignancies and their role in cancer development remain incompletely understood. Here, we describe the breadth of somatic and inherited mutations across the mitochondrial genome by sequence analyses of paired tumor and normal tissue samples from 226 individuals with five types of cancer using whole-genome data generated by The Cancer Genome Atlas Research Network. The frequencies of deleterious tumor-specific somatic mutations found in mtDNA varied across tumor types, ranging from 13% of glioblastomas to 63% of rectal adenocarcinomas. Compared with inherited mtDNA variants, somatic mtDNA mutations were enriched for nonsynonymous vs. synonymous changes (93 vs. 15; P < 2.2E−16) and were predicted to functionally impact the encoded protein. Somatic missense mutations in tumors were distributed uniformly among the mitochondrial protein genes, but 65% of somatic truncating mutations occurred in NADH dehydrogenase 5. Analysis of staging data in colon and rectal cancers revealed that the frequency of damaging mitochondrial mutations is the same in stages I and IV tumors. In summary, these data suggest that damaging somatic mtDNA mutations occur frequently (13–63%) in these five tumor types and likely confer a selective advantage in oncogenesis.
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
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
Regulation of cancer cell metabolism
Cairns, R. A., Harris, I. S., & Mak, T. W. (2011) · Nature Reviews Cancer · doi:10.1038/nrc2981 · Cited by 4,744
Otto Warburg's contributions to current concepts of cancer metabolism
Koppenol, W. H., Bounds, P. L., & Dang, C. V. (2011) · Nature Reviews Cancer · doi:10.1038/nrc3038 · Cited by 3,427
Figueroa, M. E., Abdel-Wahab, O., Lu, C., Ward, P. S., Patel, J., Shih, A., Li, Y., Bhagwat, N., Vasanthakumar, A., Fernandez, H. F., et al. (2010) · Cancer Cell · doi:10.1016/j.ccr.2010.11.015 · Cited by 2,766
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
Haem oxygenase is synthetically lethal with the tumour suppressor fumarate hydratase
Frezza, C., Zheng, L., Folger, O., Rajagopalan, K. N., MacKenzie, E. D., Jerby, L., Micaroni, M., Chaneton, B., Adam, J., Hedley, A., et al. (2011) · Nature · doi:10.1038/nature10363 · Cited by 503
Profiling the effects of isocitrate dehydrogenase 1 and 2 mutations on the cellular metabolome
Reitman, Z. J., Jin, G., Karoly, E. D., Spasojevic, I., Yang, J., Kinzler, K. W., He, Y., Bigner, D. D., Vogelstein, B., & Yan, H. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1019393108 · Cited by 449
Next-Generation Stool DNA Test Accurately Detects Colorectal Cancer and Large Adenomas
Ahlquist, D. A., Zou, H., Domanico, M., Mahoney, D. W., Yab, T. C., Taylor, W. R., Butz, M. L., Thibodeau, S. N., Rabeneck, L., Paszat, L. F., et al. (2012) · Gastroenterology · doi:10.1053/j.gastro.2011.10.031 · Cited by 315
Kaelin, W. G. (2011) · Cold Spring Harbor Symposia on Quantitative Biology · doi:10.1101/sqb.2011.76.010975 · Cited by 161
Cited by
Mitochondrial reactive oxygen species and cancer
Sullivan, L. B., & Chandel, N. S. (2014) · Cancer & Metabolism · doi:10.1186/2049-3002-2-17 · Cited by 786
Metabolic determinants of cancer cell sensitivity to glucose limitation and biguanides
Birsoy, K., Possemato, R., Lorbeer, F. K., Bayraktar, E. C., Thiru, P., Yucel, B., Wang, T., Chen, W. W., Clish, C. B., & Sabatini, D. M. (2014) · Nature · doi:10.1038/nature13110 · Cited by 710
A molecular portrait of microsatellite instability across multiple cancers
Cortes-Ciriano, I., Lee, S., Park, W.-Y., Kim, T.-M., & Park, P. J. (2017) · Nature Communications · doi:10.1038/ncomms15180 · Cited by 658
Mitochondrial DNA copy number in human disease: the more the better?
Filograna, R., Mennuni, M., Alsina, D., & Larsson, N. (2021) · FEBS Letters · doi:10.1002/1873-3468.14021 · Cited by 478
Mutational landscape of intrahepatic cholangiocarcinoma
Zou, S., Li, J., Zhou, H., Frech, C., Jiang, X., Chu, J. S. C., Zhao, X., Li, Y., Li, Q., Wang, H., et al. (2014) · Nature Communications · doi:10.1038/ncomms6696 · Cited by 434
Metadata
- Authors
- Larman, T. C., DePalma, S. R., Hadjipanayis, A. G., The Cancer Genome Atlas Research Network, Protopopov, A., Zhang, J., Gabriel, S. B., Chin, L., Seidman, C. E., Kucherlapati, R., & Seidman, J. G.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 2012-08-13
- Volume
- 109
- Issue
- 35
- Pages
- 14087-14091
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2116820741
- Cited by
- 240
- References
- 9
- FWCI
- 7.43
- Type
- journal article
- Language
- en
- Open access
- green
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: Spectrum of somatic mitochondrial mutations in five cancers. https://app.cochat.ai/papers/10.1073/pnas.1211502109
- The paper
- Larman, T. C., DePalma, S. R., Hadjipanayis, A. G., The Cancer Genome Atlas Research Network, Protopopov, A., Zhang, J., Gabriel, S. B., Chin, L., Seidman, C. E., Kucherlapati, R., & Seidman, J. G. (2012). Spectrum of somatic mitochondrial mutations in five cancers. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.1211502109
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.
