StudyType PubMedID Author Title Journal PublishDate Chromosome Disease Technology Species CaseID Platform CNA Connection Gene Affiliation Abstract GenomeAssembly GEO dbGaP ENA IsCancer FusionGene Research 26523776 Valentijn LJ, Koster J, Zwijnenburg DA, Hasselt NE, van Sluis P, Volckmann R, van Noesel MM, George RE, Tytgat GA,, Molenaar JJ, Versteeg R TERT rearrangements are frequent in neuroblastoma and identify aggressive tumors Nat Genet 2015 Dec 6 Neuroblastomas Next Generation Sequencing Homo sapiens N407T Complete Genomics Department of Oncogenomics, Academic Medical Center, Amsterdam, the Netherlands Whole-genome sequencing detected structural rearrangements of TERT in 17 of 75 high-stage neuroblastomas, with five cases resulting from chromothripsis. Rearrangements were associated with increased TERT expression and targeted regions immediately up- and downstream of TERT, positioning a super-enhancer close to the breakpoints in seven cases. TERT rearrangements (23%), ATRX deletions (11%) and MYCN amplifications (37%) identify three almost non-overlapping groups of high-stage neuroblastoma, each associated with very poor prognosis. GRCh37/hg19 Yes NA Research 26523776 Valentijn LJ, Koster J, Zwijnenburg DA, Hasselt NE, van Sluis P, Volckmann R, van Noesel MM, George RE, Tytgat GA,, Molenaar JJ, Versteeg R TERT rearrangements are frequent in neuroblastoma and identify aggressive tumors Nat Genet 2015 Dec 2 Neuroblastomas Next Generation Sequencing Homo sapiens N783T Complete Genomics MYCN Department of Oncogenomics, Academic Medical Center, Amsterdam, the Netherlands Whole-genome sequencing detected structural rearrangements of TERT in 17 of 75 high-stage neuroblastomas, with five cases resulting from chromothripsis. Rearrangements were associated with increased TERT expression and targeted regions immediately up- and downstream of TERT, positioning a super-enhancer close to the breakpoints in seven cases. TERT rearrangements (23%), ATRX deletions (11%) and MYCN amplifications (37%) identify three almost non-overlapping groups of high-stage neuroblastoma, each associated with very poor prognosis. GRCh37/hg19 Yes NA Research 26523776 Valentijn LJ, Koster J, Zwijnenburg DA, Hasselt NE, van Sluis P, Volckmann R, van Noesel MM, George RE, Tytgat GA,, Molenaar JJ, Versteeg R TERT rearrangements are frequent in neuroblastoma and identify aggressive tumors Nat Genet 2015 Dec 5 Neuroblastomas Next Generation Sequencing Homo sapiens N492T Complete Genomics TERT Department of Oncogenomics, Academic Medical Center, Amsterdam, the Netherlands Whole-genome sequencing detected structural rearrangements of TERT in 17 of 75 high-stage neuroblastomas, with five cases resulting from chromothripsis. Rearrangements were associated with increased TERT expression and targeted regions immediately up- and downstream of TERT, positioning a super-enhancer close to the breakpoints in seven cases. TERT rearrangements (23%), ATRX deletions (11%) and MYCN amplifications (37%) identify three almost non-overlapping groups of high-stage neuroblastoma, each associated with very poor prognosis. GRCh37/hg19 Yes NA Research 26523776 Valentijn LJ, Koster J, Zwijnenburg DA, Hasselt NE, van Sluis P, Volckmann R, van Noesel MM, George RE, Tytgat GA,, Molenaar JJ, Versteeg R TERT rearrangements are frequent in neuroblastoma and identify aggressive tumors Nat Genet 2015 Dec 5 Neuroblastomas Next Generation Sequencing Homo sapiens N753T Complete Genomics TERT Department of Oncogenomics, Academic Medical Center, Amsterdam, the Netherlands Whole-genome sequencing detected structural rearrangements of TERT in 17 of 75 high-stage neuroblastomas, with five cases resulting from chromothripsis. Rearrangements were associated with increased TERT expression and targeted regions immediately up- and downstream of TERT, positioning a super-enhancer close to the breakpoints in seven cases. TERT rearrangements (23%), ATRX deletions (11%) and MYCN amplifications (37%) identify three almost non-overlapping groups of high-stage neuroblastoma, each associated with very poor prognosis. GRCh37/hg19 Yes NA Research 26523776 Valentijn LJ, Koster J, Zwijnenburg DA, Hasselt NE, van Sluis P, Volckmann R, van Noesel MM, George RE, Tytgat GA,, Molenaar JJ, Versteeg R TERT rearrangements are frequent in neuroblastoma and identify aggressive tumors Nat Genet 2015 Dec 2,5 Neuroblastomas Next Generation Sequencing Homo sapiens N732T Complete Genomics MYCN;TERT Department of Oncogenomics, Academic Medical Center, Amsterdam, the Netherlands Whole-genome sequencing detected structural rearrangements of TERT in 17 of 75 high-stage neuroblastomas, with five cases resulting from chromothripsis. Rearrangements were associated with increased TERT expression and targeted regions immediately up- and downstream of TERT, positioning a super-enhancer close to the breakpoints in seven cases. TERT rearrangements (23%), ATRX deletions (11%) and MYCN amplifications (37%) identify three almost non-overlapping groups of high-stage neuroblastoma, each associated with very poor prognosis. GRCh37/hg19 Yes NA Research 26523776 Valentijn LJ, Koster J, Zwijnenburg DA, Hasselt NE, van Sluis P, Volckmann R, van Noesel MM, George RE, Tytgat GA,, Molenaar JJ, Versteeg R TERT rearrangements are frequent in neuroblastoma and identify aggressive tumors Nat Genet 2015 Dec 2,5 Neuroblastomas Next Generation Sequencing Homo sapiens N538T Complete Genomics MYCN;TERT Department of Oncogenomics, Academic Medical Center, Amsterdam, the Netherlands Whole-genome sequencing detected structural rearrangements of TERT in 17 of 75 high-stage neuroblastomas, with five cases resulting from chromothripsis. Rearrangements were associated with increased TERT expression and targeted regions immediately up- and downstream of TERT, positioning a super-enhancer close to the breakpoints in seven cases. TERT rearrangements (23%), ATRX deletions (11%) and MYCN amplifications (37%) identify three almost non-overlapping groups of high-stage neuroblastoma, each associated with very poor prognosis. GRCh37/hg19 Yes NA Research 26523776 Valentijn LJ, Koster J, Zwijnenburg DA, Hasselt NE, van Sluis P, Volckmann R, van Noesel MM, George RE, Tytgat GA,, Molenaar JJ, Versteeg R TERT rearrangements are frequent in neuroblastoma and identify aggressive tumors Nat Genet 2015 Dec 5 Neuroblastomas Next Generation Sequencing Homo sapiens N752T Complete Genomics TERT Department of Oncogenomics, Academic Medical Center, Amsterdam, the Netherlands Whole-genome sequencing detected structural rearrangements of TERT in 17 of 75 high-stage neuroblastomas, with five cases resulting from chromothripsis. Rearrangements were associated with increased TERT expression and targeted regions immediately up- and downstream of TERT, positioning a super-enhancer close to the breakpoints in seven cases. TERT rearrangements (23%), ATRX deletions (11%) and MYCN amplifications (37%) identify three almost non-overlapping groups of high-stage neuroblastoma, each associated with very poor prognosis. GRCh37/hg19 Yes NA Research 26523776 Valentijn LJ, Koster J, Zwijnenburg DA, Hasselt NE, van Sluis P, Volckmann R, van Noesel MM, George RE, Tytgat GA,, Molenaar JJ, Versteeg R TERT rearrangements are frequent in neuroblastoma and identify aggressive tumors Nat Genet 2015 Dec 8 Neuroblastomas Next Generation Sequencing Homo sapiens N481T Complete Genomics MYC Department of Oncogenomics, Academic Medical Center, Amsterdam, the Netherlands Whole-genome sequencing detected structural rearrangements of TERT in 17 of 75 high-stage neuroblastomas, with five cases resulting from chromothripsis. Rearrangements were associated with increased TERT expression and targeted regions immediately up- and downstream of TERT, positioning a super-enhancer close to the breakpoints in seven cases. TERT rearrangements (23%), ATRX deletions (11%) and MYCN amplifications (37%) identify three almost non-overlapping groups of high-stage neuroblastoma, each associated with very poor prognosis. GRCh37/hg19 Yes NA Research 26523776 Valentijn LJ, Koster J, Zwijnenburg DA, Hasselt NE, van Sluis P, Volckmann R, van Noesel MM, George RE, Tytgat GA,, Molenaar JJ, Versteeg R TERT rearrangements are frequent in neuroblastoma and identify aggressive tumors Nat Genet 2015 Dec 1 Neuroblastomas Next Generation Sequencing Homo sapiens N790T Complete Genomics Department of Oncogenomics, Academic Medical Center, Amsterdam, the Netherlands Whole-genome sequencing detected structural rearrangements of TERT in 17 of 75 high-stage neuroblastomas, with five cases resulting from chromothripsis. Rearrangements were associated with increased TERT expression and targeted regions immediately up- and downstream of TERT, positioning a super-enhancer close to the breakpoints in seven cases. TERT rearrangements (23%), ATRX deletions (11%) and MYCN amplifications (37%) identify three almost non-overlapping groups of high-stage neuroblastoma, each associated with very poor prognosis. GRCh37/hg19 Yes NA Research 26523776 Valentijn LJ, Koster J, Zwijnenburg DA, Hasselt NE, van Sluis P, Volckmann R, van Noesel MM, George RE, Tytgat GA,, Molenaar JJ, Versteeg R TERT rearrangements are frequent in neuroblastoma and identify aggressive tumors Nat Genet 2015 Dec 2 Neuroblastomas Next Generation Sequencing Homo sapiens N089T Complete Genomics MYCN Department of Oncogenomics, Academic Medical Center, Amsterdam, the Netherlands Whole-genome sequencing detected structural rearrangements of TERT in 17 of 75 high-stage neuroblastomas, with five cases resulting from chromothripsis. Rearrangements were associated with increased TERT expression and targeted regions immediately up- and downstream of TERT, positioning a super-enhancer close to the breakpoints in seven cases. TERT rearrangements (23%), ATRX deletions (11%) and MYCN amplifications (37%) identify three almost non-overlapping groups of high-stage neuroblastoma, each associated with very poor prognosis. GRCh37/hg19 Yes NA Research 26523776 Valentijn LJ, Koster J, Zwijnenburg DA, Hasselt NE, van Sluis P, Volckmann R, van Noesel MM, George RE, Tytgat GA,, Molenaar JJ, Versteeg R TERT rearrangements are frequent in neuroblastoma and identify aggressive tumors Nat Genet 2015 Dec 2 Neuroblastomas Next Generation Sequencing Homo sapiens N106T Complete Genomics MYCN Department of Oncogenomics, Academic Medical Center, Amsterdam, the Netherlands Whole-genome sequencing detected structural rearrangements of TERT in 17 of 75 high-stage neuroblastomas, with five cases resulting from chromothripsis. Rearrangements were associated with increased TERT expression and targeted regions immediately up- and downstream of TERT, positioning a super-enhancer close to the breakpoints in seven cases. TERT rearrangements (23%), ATRX deletions (11%) and MYCN amplifications (37%) identify three almost non-overlapping groups of high-stage neuroblastoma, each associated with very poor prognosis. GRCh37/hg19 Yes NA Research 26523776 Valentijn LJ, Koster J, Zwijnenburg DA, Hasselt NE, van Sluis P, Volckmann R, van Noesel MM, George RE, Tytgat GA,, Molenaar JJ, Versteeg R TERT rearrangements are frequent in neuroblastoma and identify aggressive tumors Nat Genet 2015 Dec 2 Neuroblastomas Next Generation Sequencing Homo sapiens N608T Complete Genomics MYCN Department of Oncogenomics, Academic Medical Center, Amsterdam, the Netherlands Whole-genome sequencing detected structural rearrangements of TERT in 17 of 75 high-stage neuroblastomas, with five cases resulting from chromothripsis. Rearrangements were associated with increased TERT expression and targeted regions immediately up- and downstream of TERT, positioning a super-enhancer close to the breakpoints in seven cases. TERT rearrangements (23%), ATRX deletions (11%) and MYCN amplifications (37%) identify three almost non-overlapping groups of high-stage neuroblastoma, each associated with very poor prognosis. GRCh37/hg19 Yes NA Research 26523776 Valentijn LJ, Koster J, Zwijnenburg DA, Hasselt NE, van Sluis P, Volckmann R, van Noesel MM, George RE, Tytgat GA,, Molenaar JJ, Versteeg R TERT rearrangements are frequent in neuroblastoma and identify aggressive tumors Nat Genet 2015 Dec 2,19 Neuroblastomas Next Generation Sequencing Homo sapiens N637T Complete Genomics MYCN Department of Oncogenomics, Academic Medical Center, Amsterdam, the Netherlands Whole-genome sequencing detected structural rearrangements of TERT in 17 of 75 high-stage neuroblastomas, with five cases resulting from chromothripsis. Rearrangements were associated with increased TERT expression and targeted regions immediately up- and downstream of TERT, positioning a super-enhancer close to the breakpoints in seven cases. TERT rearrangements (23%), ATRX deletions (11%) and MYCN amplifications (37%) identify three almost non-overlapping groups of high-stage neuroblastoma, each associated with very poor prognosis. GRCh37/hg19 Yes NA Research 26523776 Valentijn LJ, Koster J, Zwijnenburg DA, Hasselt NE, van Sluis P, Volckmann R, van Noesel MM, George RE, Tytgat GA,, Molenaar JJ, Versteeg R TERT rearrangements are frequent in neuroblastoma and identify aggressive tumors Nat Genet 2015 Dec 2 Neuroblastomas Next Generation Sequencing Homo sapiens N834T Complete Genomics MYCN Department of Oncogenomics, Academic Medical Center, Amsterdam, the Netherlands Whole-genome sequencing detected structural rearrangements of TERT in 17 of 75 high-stage neuroblastomas, with five cases resulting from chromothripsis. Rearrangements were associated with increased TERT expression and targeted regions immediately up- and downstream of TERT, positioning a super-enhancer close to the breakpoints in seven cases. TERT rearrangements (23%), ATRX deletions (11%) and MYCN amplifications (37%) identify three almost non-overlapping groups of high-stage neuroblastoma, each associated with very poor prognosis. GRCh37/hg19 Yes NA Research 26523776 Valentijn LJ, Koster J, Zwijnenburg DA, Hasselt NE, van Sluis P, Volckmann R, van Noesel MM, George RE, Tytgat GA,, Molenaar JJ, Versteeg R TERT rearrangements are frequent in neuroblastoma and identify aggressive tumors Nat Genet 2015 Dec 1 Neuroblastomas Next Generation Sequencing Homo sapiens N814T Complete Genomics Department of Oncogenomics, Academic Medical Center, Amsterdam, the Netherlands Whole-genome sequencing detected structural rearrangements of TERT in 17 of 75 high-stage neuroblastomas, with five cases resulting from chromothripsis. Rearrangements were associated with increased TERT expression and targeted regions immediately up- and downstream of TERT, positioning a super-enhancer close to the breakpoints in seven cases. TERT rearrangements (23%), ATRX deletions (11%) and MYCN amplifications (37%) identify three almost non-overlapping groups of high-stage neuroblastoma, each associated with very poor prognosis. GRCh37/hg19 Yes NA Research 26523776 Valentijn LJ, Koster J, Zwijnenburg DA, Hasselt NE, van Sluis P, Volckmann R, van Noesel MM, George RE, Tytgat GA,, Molenaar JJ, Versteeg R TERT rearrangements are frequent in neuroblastoma and identify aggressive tumors Nat Genet 2015 Dec 7 Neuroblastomas Next Generation Sequencing Homo sapiens N576T Complete Genomics Department of Oncogenomics, Academic Medical Center, Amsterdam, the Netherlands Whole-genome sequencing detected structural rearrangements of TERT in 17 of 75 high-stage neuroblastomas, with five cases resulting from chromothripsis. Rearrangements were associated with increased TERT expression and targeted regions immediately up- and downstream of TERT, positioning a super-enhancer close to the breakpoints in seven cases. TERT rearrangements (23%), ATRX deletions (11%) and MYCN amplifications (37%) identify three almost non-overlapping groups of high-stage neuroblastoma, each associated with very poor prognosis. GRCh37/hg19 Yes NA Research 26523776 Valentijn LJ, Koster J, Zwijnenburg DA, Hasselt NE, van Sluis P, Volckmann R, van Noesel MM, George RE, Tytgat GA,, Molenaar JJ, Versteeg R TERT rearrangements are frequent in neuroblastoma and identify aggressive tumors Nat Genet 2015 Dec 5 Neuroblastomas Next Generation Sequencing Homo sapiens N804T Complete Genomics Department of Oncogenomics, Academic Medical Center, Amsterdam, the Netherlands Whole-genome sequencing detected structural rearrangements of TERT in 17 of 75 high-stage neuroblastomas, with five cases resulting from chromothripsis. Rearrangements were associated with increased TERT expression and targeted regions immediately up- and downstream of TERT, positioning a super-enhancer close to the breakpoints in seven cases. TERT rearrangements (23%), ATRX deletions (11%) and MYCN amplifications (37%) identify three almost non-overlapping groups of high-stage neuroblastoma, each associated with very poor prognosis. GRCh37/hg19 Yes NA Research 26523776 Valentijn LJ, Koster J, Zwijnenburg DA, Hasselt NE, van Sluis P, Volckmann R, van Noesel MM, George RE, Tytgat GA,, Molenaar JJ, Versteeg R TERT rearrangements are frequent in neuroblastoma and identify aggressive tumors Nat Genet 2015 Dec 4,12,17 Neuroblastomas Next Generation Sequencing Homo sapiens N770T Complete Genomics CDK4 Department of Oncogenomics, Academic Medical Center, Amsterdam, the Netherlands Whole-genome sequencing detected structural rearrangements of TERT in 17 of 75 high-stage neuroblastomas, with five cases resulting from chromothripsis. Rearrangements were associated with increased TERT expression and targeted regions immediately up- and downstream of TERT, positioning a super-enhancer close to the breakpoints in seven cases. TERT rearrangements (23%), ATRX deletions (11%) and MYCN amplifications (37%) identify three almost non-overlapping groups of high-stage neuroblastoma, each associated with very poor prognosis. GRCh37/hg19 Yes NA