The DOI matches its Crossref record; 9 of the 9 references it cites were found in a registry or an index.
Telomerase reverse transcriptase promoter mutations in primary cutaneous melanoma
Open accessAbstract
We previously reported a disease segregating causal germline mutation in a melanoma family and recurrent somatic mutations in metastasized tumours from unrelated patients in the core promoter region of the telomerase reverse transcriptase (TERT) gene. Here we show that the TERT promoter mutations, besides causing an increased gene expression, associate with increased patient age, increased Breslow thickness and tumour ulceration in 287 primary melanomas. The mutations are more frequent at both intermittently and chronically sun-exposed sites than non-exposed sites and tend to co-occur with BRAF and CDKN2A alterations. The association with parameters generally connected with poor outcome, coupled with high recurrence and mechanistic relevance, raises the possibility of the eventual use of TERT promoter mutations in the disease management. Cutaneous melanoma is an aggressive form of skin cancer. Here, the authors show that mutations in the TERT promoter of 287 primary melanomas are associated with age, Breslow thickness and tumour ulceration and frequently occur at sun-exposed sites.
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
A landscape of driver mutations in melanoma
Hodis, E., Watson, I. R., Kryukov, G. V., Arold, S. T., Imielinski, M., Theurillat, J.-P., Nickerson, E., Auclair, D., Li, L., Place, C., et al. (2012) · Cell · doi:10.1016/j.cell.2012.06.024 · Cited by 2,610
Frequency of TERT promoter mutations in human cancers
Vinagre, J., Almeida, A., Pópulo, H., Batista, R., Lyra, J., Pinto, V., Coelho, R., Celestino, R., Prazeres, H., Lima, L., et al. (2013) · Nature Communications · doi:10.1038/ncomms3185 · Cited by 898
Determinants of BRAF Mutations in Primary Melanomas
Maldonado, J. L., Fridlyand, J., Patel, H., Jain, A. N., Busam, K., Kageshita, T., Ono, T., Albertson, D. G., Pinkel, D., & Bastian, B. C. (2003) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djg123 · Cited by 664
TERT promoter mutations in cancer development
Heidenreich, B., Rachakonda, P. S., Hemminki, K., & Kumar, R. (2014) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2013.11.005 · Cited by 238
Self-citationDing, Z., Wu, C.-J., Jaskelioff, M., Ivanova, E., Kost-Alimova, M., Protopopov, A., Chu, G. C., Wang, G., Lu, X., Labrot, E. S., et al. (2012) · Cell · doi:10.1016/j.cell.2012.01.039 · Cited by 220
Bauer, J., Büttner, P., Murali, R., Okamoto, I., Kolaitis, N. A., Landi, M. T., Scolyer, R. A., & Bastian, B. C. (2011) · Pigment Cell & Melanoma Research · doi:10.1111/j.1755-148x.2011.00837.x · Cited by 211
Genes and pathways downstream of telomerase in melanoma metastasis
Bagheri, S., Nosrati, M., Li, S., Fong, S., Torabian, S., Rangel, J., Moore, D. H., Federman, S., LaPosa, R. R., Baehner, F. L., et al. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0510085103 · Cited by 129
Telomerase Maintains Telomere Structure in Normal Human Cells
Masutomi, K., Yu, E. Y., Khurts, S., Ben-Porath, I., Currier, J. L., Metz, G. B., Brooks, M. W., Kaneko, S., Murakami, S., DeCaprio, J. A., et al. (2003) · Cell · doi:10.1016/s0092-8674(03)00550-6 · Cited by 70
Cited by
Telomeres and Telomere Length: A General Overview
Srinivas, N., Rachakonda, S., & Kumar, R. (2020) · Cancers · doi:10.3390/cancers12030558 · Cited by 304
Self-citationTERT promoter mutations and telomerase reactivation in urothelial cancer
Borah, S., Xi, L., Zaug, A. J., Powell, N. M., Dancik, G. M., Cohen, S. B., Costello, J. C., Theodorescu, D., & Cech, T. R. (2015) · Science · doi:10.1126/science.1260200 · Cited by 292
Fredriksson, N. J., Ny, L., Nilsson, J. A., & Larsson, E. (2014) · Nature Genetics · doi:10.1038/ng.3141 · Cited by 289
Metadata
- Authors
- Heidenreich, B., Nagore, E., Rachakonda, P. S., Garcia-Casado, Z., Requena, C., Traves, V., Becker, J., Soufir, N., Hemminki, K., & Kumar, R.
- Venue
- Nature Communications
- Published
- 2014-02-26
- Volume
- 5
- Issue
- 1
- Pages
- 3401-3401
- ISSN
- 2041-1723 (ISSN-L)
- OpenAlex
- W1989827854
- Cited by
- 189
- References
- 9
- FWCI
- 8.52
- Type
- journal article
- Language
- en
- Open access
- hybrid
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: Telomerase reverse transcriptase promoter mutations in primary cutaneous melanoma. https://app.cochat.ai/papers/10.1038/ncomms4401
- The paper
- Heidenreich, B., Nagore, E., Rachakonda, P. S., Garcia-Casado, Z., Requena, C., Traves, V., Becker, J., Soufir, N., Hemminki, K., & Kumar, R. (2014). Telomerase reverse transcriptase promoter mutations in primary cutaneous melanoma. Nature Communications. https://doi.org/10.1038/ncomms4401
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.
