The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.
POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia
Open accessAbstract
Chronic lymphocytic leukemia (CLL) is the most frequent leukemia in adults. We have analyzed exome sequencing data from 127 individuals with CLL and Sanger sequencing data from 214 additional affected individuals, identifying recurrent somatic mutations in POT1 (encoding protection of telomeres 1) in 3.5% of the cases, with the frequency reaching 9% when only individuals without IGHV@ mutations were considered. POT1 encodes a component of the shelterin complex and is the first member of this telomeric structure found to be mutated in human cancer. Somatic mutation of POT1 primarily occurs in gene regions encoding the two oligonucleotide-/oligosaccharide-binding (OB) folds and affects key residues required to bind telomeric DNA. POT1-mutated CLL cells have numerous telomeric and chromosomal abnormalities that suggest that POT1 mutations favor the acquisition of the malignant features of CLL cells. The identification of POT1 as a new frequently mutated gene in CLL may facilitate novel approaches for the clinical management of this disease.
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Cites
Massive genomic rearrangement acquired in a single catastrophic event during cancer development
Stephens, P. J., Greenman, C. D., Fu, B., Yang, F., Bignell, G. R., Mudie, L. J., Pleasance, E. D., Lau, K. W., Beare, D., Stebbings, L. A., et al. (2011) · Cell · doi:10.1016/j.cell.2010.11.055 · Cited by 2,414
Telomere Shortening and Tumor Formation by Mouse Cells Lacking Telomerase RNA
Blasco, M. A., Lee, H.-W., Hande, M. P., Samper, E., Lansdorp, P. M., DePinho, R. A., & Greider, C. W. (1997) · Cell · doi:10.1016/s0092-8674(01)80006-4 · Cited by 2,108
Self-citationDNA breaks and chromosome pulverization from errors in mitosis
Crasta, K., Ganem, N. J., Dagher, R., Lantermann, A. B., Ivanova, E. V., Pan, Y., Nezi, L., Protopopov, A., Chowdhury, D., & Pellman, D. (2012) · Nature · doi:10.1038/nature10802 · Cited by 1,227
Pot1, the Putative Telomere End-Binding Protein in Fission Yeast and Humans
Baumann, P., & Cech, T. R. (2001) · Science · doi:10.1126/science.1060036 · Cited by 1,028
Wu, L., Multani, A. S., He, H., Cosme-Blanco, W., Deng, Y., Deng, J. M., Bachilo, O., Pathak, S., Tahara, H., Bailey, S. M., et al. (2006) · Cell · doi:10.1016/j.cell.2006.05.037 · Cited by 422
Hockemeyer, D., Sfeir, A. J., Shay, J. W., Wright, W. E., & de Lange, T. (2005) · The EMBO Journal · doi:10.1038/sj.emboj.7600733 · Cited by 314
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Cited by
POT1 loss-of-function variants predispose to familial melanoma
Robles-Espinoza, C. D., Harland, M., Ramsay, A. J., Aoude, L. G., Quesada, V., Ding, Z., Pooley, K. A., Pritchard, A. L., Tiffen, J. C., Petljak, M., et al. (2014) · Nature Genetics · doi:10.1038/ng.2947 · Cited by 391
Self-citationRare missense variants in POT1 predispose to familial cutaneous malignant melanoma
NCI DCEG Cancer Sequencing Working Group, Shi, J., Laboratory, N. D. C. G. R., French Familial Melanoma Study Group, Yang, X. R., Ballew, B., Rotunno, M., Calista, D., Fargnoli, M. C., Ghiorzo, P., et al. (2014) · Nature Genetics · doi:10.1038/ng.2941 · Cited by 331
Telomere-driven diseases and telomere-targeting therapies
Martínez, P., & Blasco, M. A. (2017) · Journal of Cell Biology · doi:10.1083/jcb.201610111 · Cited by 257
“…to familial melanoma, familial glioma, Li-Fraumeni–like syndrome, mantle cell lymphoma, parathyroid adenoma, and chronic lymphocytic leukemia (Newey et al., 2012; Ramsay et al., 2013; Bainbridge et al., 2014; Robles-Espinoza et al., 2014; Shi et al., 2014; Zhang et al., 2014; Calvete et al., 2015).”
BackgroundSelf-citationFerreira, P. G., Jares, P., Rico, D., Gómez-López, G., Martínez-Trillos, A., Villamor, N., Ecker, S., González-Pérez, A., Knowles, D. G., Monlong, J., et al. (2014) · Genome Research · doi:10.1101/gr.152132.112 · Cited by 214
Self-citationImpact of genomic damage and ageing on stem cell function
Behrens, A., van Deursen, J. M., Rudolph, K. L., & Schumacher, B. (2014) · Nature Cell Biology · doi:10.1038/ncb2928 · Cited by 207
Metadata
- Authors
- Ramsay, A. J., Quesada, V., Foronda, M., Conde, L., Martínez-Trillos, A., Villamor, N., Rodríguez, D., Kwarciak, A., Garabaya, C., Gallardo, M., López-Guerra, M., López-Guillermo, A., Puente, X. S., Blasco, M. A., Campo, E., & López-Otín, C.
- Venue
- Nature Genetics
- Published
- 2013-03-17
- Volume
- 45
- Issue
- 5
- Pages
- 526-530
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1968089274
- Cited by
- 276
- References
- 7
- FWCI
- 16.71
- Type
- journal article
- Language
- en
- Open access
- green
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- Ramsay, A. J., Quesada, V., Foronda, M., Conde, L., Martínez-Trillos, A., Villamor, N., Rodríguez, D., Kwarciak, A., Garabaya, C., Gallardo, M., López-Guerra, M., López-Guillermo, A., Puente, X. S., Blasco, M. A., Campo, E., & López-Otín, C. (2013). POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia. Nature Genetics. https://doi.org/10.1038/ng.2584
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