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000153604 0247_ $$2doi$$a10.1038/s41467-019-13824-9
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000153604 1001_ $$0P:(DE-He78)a82e5b3870b674f83ff39df31c487ac7$$aSieverling, Lina$$b0$$eFirst author
000153604 245__ $$aGenomic footprints of activated telomere maintenance mechanisms in cancer.
000153604 260__ $$a[London]$$bNature Publishing Group UK$$c2020
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000153604 520__ $$aCancers require telomere maintenance mechanisms for unlimited replicative potential. They achieve this through TERT activation or alternative telomere lengthening associated with ATRX or DAXX loss. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, we dissect whole-genome sequencing data of over 2500 matched tumor-control samples from 36 different tumor types aggregated within the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium to characterize the genomic footprints of these mechanisms. While the telomere content of tumors with ATRX or DAXX mutations (ATRX/DAXXtrunc) is increased, tumors with TERT modifications show a moderate decrease of telomere content. One quarter of all tumor samples contain somatic integrations of telomeric sequences into non-telomeric DNA. This fraction is increased to 80% prevalence in ATRX/DAXXtrunc tumors, which carry an aberrant telomere variant repeat (TVR) distribution as another genomic marker. The latter feature includes enrichment or depletion of the previously undescribed singleton TVRs TTCGGG and TTTGGG, respectively. Our systematic analysis provides new insight into the recurrent genomic alterations associated with telomere maintenance mechanisms in cancer.
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000153604 7001_ $$0P:(DE-He78)7f6d024a3ef1eee64b6a24c8fcc2a581$$aHong, Chen$$b1
000153604 7001_ $$aKoser, Sandra D$$b2
000153604 7001_ $$0P:(DE-HGF)0$$aGinsbach, Philip$$b3
000153604 7001_ $$0P:(DE-He78)e053817bc90becc8a8dd8250e677e773$$aKleinheinz, Kortine$$b4
000153604 7001_ $$0P:(DE-He78)135e8c8d1dd1b66b8127c3d1e3a9b6a0$$aHutter, Barbara$$b5
000153604 7001_ $$0P:(DE-He78)5df998d953f664b5230be9553e48e293$$aBraun, Delia$$b6
000153604 7001_ $$00000-0002-2036-494X$$aCortés-Ciriano, Isidro$$b7
000153604 7001_ $$00000-0001-7545-7361$$aXi, Ruibin$$b8
000153604 7001_ $$0P:(DE-He78)36d0b1aeaf5a81ce289db680388c0adf$$aKabbe, Rolf$$b9
000153604 7001_ $$00000-0001-9378-960X$$aPark, Peter J$$b10
000153604 7001_ $$0P:(DE-He78)78b6aa82148e60b4d91e3a37a6d3d9a0$$aEils, Roland$$b11
000153604 7001_ $$0P:(DE-He78)f2a782242acf94a3114d75c45dc75b37$$aSchlesner, Matthias$$b12
000153604 7001_ $$aGroup, PCAWG-Structural Variation Working$$b13$$eCollaboration Author
000153604 7001_ $$0P:(DE-He78)fc949170377b58098e46141d95c72661$$aBrors, Benedikt$$b14
000153604 7001_ $$0P:(DE-He78)94de5f7413279464b6e738d91dfae1eb$$aRippe, Karsten$$b15
000153604 7001_ $$0P:(DE-He78)551bb92841f634070997aa168d818492$$aJones, David T W$$b16
000153604 7001_ $$0P:(DE-He78)75e2afb3ea0812786cc551c10679b67d$$aFeuerbach, Lars$$b17
000153604 7001_ $$aConsortium, PCAWG$$b18$$eCollaboration Author
000153604 7001_ $$aAkdemir, Kadir C$$b19
000153604 7001_ $$aAlvarez, Eva G$$b20
000153604 7001_ $$aBaez-Ortega, Adrian$$b21
000153604 7001_ $$aBeroukhim, Rameen$$b22
000153604 7001_ $$aBoutros, Paul C$$b23
000153604 7001_ $$aBowtell, David D L$$b24
000153604 7001_ $$0P:(DE-He78)fc949170377b58098e46141d95c72661$$aBrors, Benedikt$$b25
000153604 7001_ $$aBurns, Kathleen H$$b26
000153604 7001_ $$aCampbell, Peter J$$b27
000153604 7001_ $$aChan, Kin$$b28
000153604 7001_ $$aChen, Ken$$b29
000153604 7001_ $$aCortés-Ciriano, Isidro$$b30
000153604 7001_ $$aDueso-Barroso, Ana$$b31
000153604 7001_ $$aDunford, Andrew J$$b32
000153604 7001_ $$aEdwards, Paul A$$b33
000153604 7001_ $$aEstivill, Xavier$$b34
000153604 7001_ $$aEtemadmoghadam, Dariush$$b35
000153604 7001_ $$0P:(DE-He78)75e2afb3ea0812786cc551c10679b67d$$aFeuerbach, Lars$$b36$$eLast author
000153604 7001_ $$aFink, J Lynn$$b37
000153604 7001_ $$aFrenkel-Morgenstern, Milana$$b38
000153604 7001_ $$aGarsed, Dale W$$b39
000153604 7001_ $$aGerstein, Mark$$b40
000153604 7001_ $$aGordenin, Dmitry A$$b41
000153604 7001_ $$aHaan, David$$b42
000153604 7001_ $$aHaber, James E$$b43
000153604 7001_ $$aHess, Julian M$$b44
000153604 7001_ $$0P:(DE-He78)135e8c8d1dd1b66b8127c3d1e3a9b6a0$$aHutter, Barbara$$b45
000153604 7001_ $$aImielinski, Marcin$$b46
000153604 7001_ $$0P:(DE-He78)551bb92841f634070997aa168d818492$$aJones, David T W$$b47
000153604 7001_ $$aJu, Young Seok$$b48
000153604 7001_ $$aKazanov, Marat D$$b49
000153604 7001_ $$aKlimczak, Leszek J$$b50
000153604 7001_ $$aKoh, Youngil$$b51
000153604 7001_ $$aKorbel, Jan O$$b52
000153604 7001_ $$aKumar, Kiran$$b53
000153604 7001_ $$aLee, Eunjung Alice$$b54
000153604 7001_ $$aLee, Jake June-Koo$$b55
000153604 7001_ $$aLi, Yilong$$b56
000153604 7001_ $$aLynch, Andy G$$b57
000153604 7001_ $$aMacintyre, Geoff$$b58
000153604 7001_ $$aMarkowetz, Florian$$b59
000153604 7001_ $$aMartincorena, Iñigo$$b60
000153604 7001_ $$aMartinez-Fundichely, Alexander$$b61
000153604 7001_ $$aMeyerson, Matthew$$b62
000153604 7001_ $$aMiyano, Satoru$$b63
000153604 7001_ $$aNakagawa, Hidewaki$$b64
000153604 7001_ $$aNavarro, Fabio C P$$b65
000153604 7001_ $$aOssowski, Stephan$$b66
000153604 7001_ $$aPark, Peter J$$b67
000153604 7001_ $$aPearson, John V$$b68
000153604 7001_ $$aPuiggròs, Montserrat$$b69
000153604 7001_ $$0P:(DE-He78)94de5f7413279464b6e738d91dfae1eb$$aRippe, Karsten$$b70
000153604 7001_ $$aRoberts, Nicola D$$b71
000153604 7001_ $$aRoberts, Steven A$$b72
000153604 7001_ $$aRodriguez-Martin, Bernardo$$b73
000153604 7001_ $$aSchumacher, Steven E$$b74
000153604 7001_ $$aScully, Ralph$$b75
000153604 7001_ $$aShackleton, Mark$$b76
000153604 7001_ $$aSidiropoulos, Nikos$$b77
000153604 7001_ $$0P:(DE-He78)a82e5b3870b674f83ff39df31c487ac7$$aSieverling, Lina$$b78
000153604 7001_ $$aStewart, Chip$$b79
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000153604 7001_ $$aTorrents, David$$b81
000153604 7001_ $$aTubio, Jose M C$$b82
000153604 7001_ $$aVillasante, Izar$$b83
000153604 7001_ $$aWaddell, Nicola$$b84
000153604 7001_ $$aWala, Jeremiah A$$b85
000153604 7001_ $$aWeischenfeldt, Joachim$$b86
000153604 7001_ $$aYang, Lixing$$b87
000153604 7001_ $$aYao, Xiaotong$$b88
000153604 7001_ $$aYoon, Sung-Soo$$b89
000153604 7001_ $$aZamora, Jorge$$b90
000153604 7001_ $$aZhang, Cheng-Zhong$$b91
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