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Sökning: onr:"swepub:oai:prod.swepub.kib.ki.se:142920554" > Comprehensive analy...
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 07491naa a2201381 4500 | |
| 001 | oai:prod.swepub.kib.ki.se:142920554 | |
| 003 | SwePub | |
| 008 | 240811s2020 | |||||||||||000 ||eng| | |
| 009 | oai:lup.lub.lu.se:001f1f29-5b74-4503-961a-7b262cd2ca86 | |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1429205542 URI |
| 024 | 7 | a https://doi.org/10.1038/s41588-019-0576-72 DOI |
| 024 | 7 | a https://lup.lub.lu.se/record/001f1f29-5b74-4503-961a-7b262cd2ca862 URI |
| 040 | a (SwePub)kid (SwePub)lu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Cortes-Ciriano, Iu Harvard Medical School4 aut |
| 245 | 1 0 | a Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing |
| 264 | c 2020-02-05 | |
| 264 | 1 | b Springer Science and Business Media LLC,c 2020 |
| 520 | a Chromothripsis is a mutational phenomenon characterized by massive, clustered genomic rearrangements that occurs in cancer and other diseases. Recent studies in selected cancer types have suggested that chromothripsis may be more common than initially inferred from low-resolution copy-number data. Here, as part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA), we analyze patterns of chromothripsis across 2,658 tumors from 38 cancer types using whole-genome sequencing data. We find that chromothripsis events are pervasive across cancers, with a frequency of more than 50% in several cancer types. Whereas canonical chromothripsis profiles display oscillations between two copy-number states, a considerable fraction of events involve multiple chromosomes and additional structural alterations. In addition to non-homologous end joining, we detect signatures of replication-associated processes and templated insertions. Chromothripsis contributes to oncogene amplification and to inactivation of genes such as mismatch-repair-related genes. These findings show that chromothripsis is a major process that drives genome evolution in human cancer. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
| 653 | a Chromothripsis | |
| 653 | a Evolution, Molecular | |
| 653 | a Genome, Human/genetics | |
| 653 | a Genomics | |
| 653 | a Humans | |
| 653 | a Mutation | |
| 653 | a Neoplasms/genetics | |
| 653 | a Whole Genome Sequencing | |
| 700 | 1 | a Lee, JJKu Harvard Medical School4 aut |
| 700 | 1 | a Xi, RBu Peking University Cancer Hospital4 aut |
| 700 | 1 | a Jain, Du Harvard Medical School4 aut |
| 700 | 1 | a Jung, YLu Harvard Medical School,Loyola University Chicago4 aut |
| 700 | 1 | a Yang, LX4 aut |
| 700 | 1 | a Gordenin, Du National Human Genome Research Institute4 aut |
| 700 | 1 | a Klimczak, LJu National Human Genome Research Institute4 aut |
| 700 | 1 | a Zhang, CZu Broad Institute4 aut |
| 700 | 1 | a Pellman, DSu Dana-Farber Cancer Institute4 aut |
| 700 | 1 | a Park, PJu Harvard Medical School4 aut |
| 700 | 1 | a Akdemir, KC4 aut |
| 700 | 1 | a Alvarez, EG4 aut |
| 700 | 1 | a Baez-Ortega, A4 aut |
| 700 | 1 | a Beroukhim, R4 aut |
| 700 | 1 | a Boutros, PC4 aut |
| 700 | 1 | a Bowtell, DDL4 aut |
| 700 | 1 | a Brors, B4 aut |
| 700 | 1 | a Burns, KH4 aut |
| 700 | 1 | a Campbell, PJ4 aut |
| 700 | 1 | a Chan, K4 aut |
| 700 | 1 | a Chen, K4 aut |
| 700 | 1 | a Dueso-Barroso, A4 aut |
| 700 | 1 | a Dunford, AJ4 aut |
| 700 | 1 | a Edwards, PA4 aut |
| 700 | 1 | a Estivill, X4 aut |
| 700 | 1 | a Etemadmoghadam, D4 aut |
| 700 | 1 | a Feuerbach, L4 aut |
| 700 | 1 | a Fink, JL4 aut |
| 700 | 1 | a Frenkel-Morgenstern, M4 aut |
| 700 | 1 | a Garsed, DW4 aut |
| 700 | 1 | a Gerstein, M4 aut |
| 700 | 1 | a Gordenin, DA4 aut |
| 700 | 1 | a Haan, D4 aut |
| 700 | 1 | a Haber, JE4 aut |
| 700 | 1 | a Hess, JM4 aut |
| 700 | 1 | a Hutter, B4 aut |
| 700 | 1 | a Imielinski, M4 aut |
| 700 | 1 | a Jones, DTW4 aut |
| 700 | 1 | a Ju, YS4 aut |
| 700 | 1 | a Kazanov, MD4 aut |
| 700 | 1 | a Koh, Y4 aut |
| 700 | 1 | a Korbel, JO4 aut |
| 700 | 1 | a Kumar, K4 aut |
| 700 | 1 | a Lee, EA4 aut |
| 700 | 1 | a Li, YL4 aut |
| 700 | 1 | a Lynch, AG4 aut |
| 700 | 1 | a Macintyre, G4 aut |
| 700 | 1 | a Markowetz, F4 aut |
| 700 | 1 | a Martincorena, I4 aut |
| 700 | 1 | a Martinez-Fundichely, A4 aut |
| 700 | 1 | a Miyano, S4 aut |
| 700 | 1 | a Nakagawa, H4 aut |
| 700 | 1 | a Navarro, FCP4 aut |
| 700 | 1 | a Ossowski, S4 aut |
| 700 | 1 | a Pearson, J4 aut |
| 700 | 1 | a Puiggros, M4 aut |
| 700 | 1 | a Rippe, K4 aut |
| 700 | 1 | a Roberts, ND4 aut |
| 700 | 1 | a Roberts, SA4 aut |
| 700 | 1 | a Rodriguez-Martin, B4 aut |
| 700 | 1 | a Schumacher, SE4 aut |
| 700 | 1 | a Scully, R4 aut |
| 700 | 1 | a Shackleton, M4 aut |
| 700 | 1 | a Sidiropoulos, N4 aut |
| 700 | 1 | a Sieverling, L4 aut |
| 700 | 1 | a Stewart, C4 aut |
| 700 | 1 | a Torrents, D4 aut |
| 700 | 1 | a Tubio, JMC4 aut |
| 700 | 1 | a Villasante, I4 aut |
| 700 | 1 | a Waddell, N4 aut |
| 700 | 1 | a Wala, JA4 aut |
| 700 | 1 | a Weischenfeldt, J4 aut |
| 700 | 1 | a Yao, XT4 aut |
| 700 | 1 | a Yoon, SS4 aut |
| 700 | 1 | a Zamora, J4 aut |
| 700 | 1 | a Borg, Åkeu Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Familjär bröstcancer,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Familial Breast Cancer,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments4 cre0 (Swepub:lu)onk-abo |
| 700 | 1 | a Ringnér, Markusu Lund University,Lunds universitet,Molekylär cellbiologi,Biologiska institutionen,Naturvetenskapliga fakulteten,Molecular Cell Biology,Department of Biology,Faculty of Science4 cre0 (Swepub:lu)thep-mri |
| 700 | 1 | a Staaf, Johanu Lund University,Lunds universitet,Avdelningen för translationell cancerforskning,Institutionen för laboratoriemedicin,Medicinska fakulteten,Forskningsgrupp Lungcancer,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Bröst/lungcancer,Sektion I,Institutionen för kliniska vetenskaper, Lund,Division of Translational Cancer Research,Department of Laboratory Medicine,Faculty of Medicine,Research Group Lung Cancer,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Breast/lungcancer,Section I,Department of Clinical Sciences, Lund4 cre0 (Swepub:lu)onk-jst |
| 710 | 2 | a Harvard Medical Schoolb Peking University Cancer Hospital4 org |
| 710 | 2 | a PCAWG-Structural Variation Working Group |
| 773 | 0 | t Nature geneticsd : Springer Science and Business Media LLCg 52:3, s. 331-+q 52:3<331-+x 1546-1718x 1061-4036 |
| 856 | 4 | u https://www.nature.com/articles/s41588-019-0576-7.pdf |
| 856 | 4 | u http://dx.doi.org/10.1038/s41588-019-0576-7x freey FULLTEXT |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:142920554 |
| 856 | 4 8 | u https://doi.org/10.1038/s41588-019-0576-7 |
| 856 | 4 8 | u https://lup.lub.lu.se/record/001f1f29-5b74-4503-961a-7b262cd2ca86 |
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