Genomic footprints of activated telomere maintenance mechanisms in cancer
| العنوان: | Genomic footprints of activated telomere maintenance mechanisms in cancer |
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| المؤلفون: | Sieverling, Lina, Hong, Chen, Koser, Sandra D., Ginsbach, Philip, Kleinheinz, Kortine, Hutter, Barbara, Braun, Delia M., Cortés-Ciriano, Isidro, Xi, Ruibin, Kabbe, Rolf, Park, Peter J., Eils, Roland, Schlesner, Matthias, Akdemir, Kadir C., Alvarez, Eva G., Baez-Ortega, Adrian, Beroukhim, Rameen, Boutros, Paul C., Bowtell, David D.L., Brors, Benedikt, Burns, Kathleen H., Campbell, Peter J., Chan, Kin, Chen, Ken, Dueso-Barroso, Ana, Dunford, Andrew J., Edwards, Paul A., Estivill, Xavier, Etemadmoghadam, Dariush, Feuerbach, Lars, Fink, J. Lynn, Frenkel-Morgenstern, Milana, Garsed, Dale W., Gerstein, Mark, Gordenin, Dmitry A., Haan, David, Haber, James E., Hess, Julian M., Imielinski, Marcin, Jones, David T.W., Ju, Young Seok, Kazanov, Marat D., Klimczak, Leszek J., Koh, Youngil, Korbel, Jan O., Kumar, Kiran, Sidiropoulos, Nikos, Weischenfeldt, Joachim |
| المساهمون: | Sieverling, Lina [0000-0002-0595-4976], Hong, Chen [0000-0003-1244-3506], Hutter, Barbara [0000-0002-9034-0329], Braun, Delia M [0000-0002-6059-7588], Cortés-Ciriano, Isidro [0000-0002-2036-494X], Xi, Ruibin [0000-0001-7545-7361], Park, Peter J [0000-0001-9378-960X], Schlesner, Matthias [0000-0002-5896-4086], Rippe, Karsten [0000-0001-9951-9395], Apollo - University of Cambridge Repository, University of St Andrews. Statistics, University of St Andrews. School of Medicine, University of St Andrews. Sir James Mackenzie Institute for Early Diagnosis, University of St Andrews. Cellular Medicine Division |
| المصدر: | Nature Communications Nature communications, vol 11, iss 1 Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020) Nature Communications, 11 Nature Communications, 11, 1 Sieverling, L, Hong, C, Koser, S D, Ginsbach, P, Kleinheinz, K, Hutter, B, Braun, D M, Cortés-Ciriano, I, Xi, R, Kabbe, R, Park, P J, Eils, R, Schlesner, M, Akdemir, K C, Alvarez, E G, Baez-Ortega, A, Beroukhim, R, Boutros, P C, Bowtell, D D L, Brors, B, Burns, K H, Campbell, P J, Chan, K, Chen, K, Cortés-Ciriano, I, Dueso-Barroso, A, Dunford, A J, Edwards, P A, Estivill, X, Etemadmoghadam, D, Feuerbach, L, Fink, J L, Frenkel-Morgenstern, M, Garsed, D W, Gerstein, M, Gordenin, D A, Haan, D, Haber, J E, Hess, J M, Hutter, B, Imielinski, M, Jones, D T W, Ju, Y S, Kazanov, M D, Klimczak, L J, Koh, Y, Korbel, J O, Kumar, K, Sidiropoulos, N, Weischenfeldt, J, PCAWG Structural Variation Working Group & PCAWG Consortium 2020, ' Genomic footprints of activated telomere maintenance mechanisms in cancer ', Nature Communications, vol. 11, no. 1, 733 . https://doi.org/10.1038/s41467-019-13824-9Test |
| بيانات النشر: | Nature Publishing Group UK, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | 0301 basic medicine, Telomerase, Somatic cell, Medizin, General Physics and Astronomy, medicine.disease_cause, Genome, Repetitive Sequences, chemistry.chemical_compound, 0302 clinical medicine, Neoplasms, Cancer genomics, lcsh:Science, Càncer, Cancer genetics, Cancer, Telomere-binding protein, Genetics, Mutation, 0303 health sciences, Multidisciplinary, Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], Telòmer, DNA damage and repair, 3rd-DAS, Telomere, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], 030220 oncology & carcinogenesis, RNA, Long Noncoding, Long Noncoding, Co-Repressor Proteins, Human, Biotechnology, X-linked Nuclear Protein, Science, Genomics, QH426 Genetics, Biology, General Biochemistry, Genetics and Molecular Biology, Article, RC0254, 03 medical and health sciences, Death-associated protein 6, Rare Diseases, SDG 3 - Good Health and Well-being, Matters Arising, medicine, Humans, ddc:610, QH426, ATRX, 030304 developmental biology, Repetitive Sequences, Nucleic Acid, Tumors, Whole genome sequencing, Nucleic Acid, Whole Genome Sequencing, RC0254 Neoplasms. Tumors. Oncology (including Cancer), Genome, Human, Breakpoint, Human Genome, PCAWG-Structural Variation Working Group, PCAWG Consortium, Diagnostic markers, General Chemistry, medicine.disease, Computational biology and bioinformatics, Genòmica, 030104 developmental biology, chemistry, Case-Control Studies, RNA, lcsh:Q, DNA, Molecular Chaperones |
| الوصف: | Cancers require telomere maintenance mechanisms for unlimited replicative potential. They achieve this through TERT activation or alternative telomere lengthening associated with ATRX or DAXX loss. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, we dissect whole-genome sequencing data of over 2500 matched tumor-control samples from 36 different tumor types aggregated within the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium to characterize the genomic footprints of these mechanisms. While the telomere content of tumors with ATRX or DAXX mutations (ATRX/DAXXtrunc) is increased, tumors with TERT modifications show a moderate decrease of telomere content. One quarter of all tumor samples contain somatic integrations of telomeric sequences into non-telomeric DNA. This fraction is increased to 80% prevalence in ATRX/DAXXtrunc tumors, which carry an aberrant telomere variant repeat (TVR) distribution as another genomic marker. The latter feature includes enrichment or depletion of the previously undescribed singleton TVRs TTCGGG and TTTGGG, respectively. Our systematic analysis provides new insight into the recurrent genomic alterations associated with telomere maintenance mechanisms in cancer. In somatic cells the mechanisms maintaining the chromosome ends are normally inactivated; however, cancer cells can re-activate these pathways to support continuous growth. Here, the authors characterize the telomeric landscapes across tumour types and identify genomic alterations associated with different telomere maintenance mechanisms. |
| وصف الملف: | application/pdf; application/zip; text/xml |
| اللغة: | English |
| تدمد: | 2041-1723 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19d7209aaca5cdce5449b93eccc83971Test http://europepmc.org/articles/PMC7002710Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....19d7209aaca5cdce5449b93eccc83971 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 20411723 |
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