메뉴 건너뛰기




Volumn 526, Issue 7574, 2015, Pages 519-524

Non-coding recurrent mutations in chronic lymphocytic leukaemia

(57)  Puente, Xose S a   Beà, Silvia b   Valdés Mas, Rafael a   Villamor, Neus c   Gutiérrez Abril, Jesús a   Martín Subero, José I c   Munar, Marta c   Rubio Pérez, Carlota d   Jares, Pedro b   Aymerich, Marta c   Baumann, Tycho e   Beekman, Renée b   Belver, Laura f   Carrio, Anna c   Castellano, Giancarlo b   Clot, Guillem b   Colado, Enrique g   Colomer, Dolors c   Costa, Dolors c   Delgado, Julio e   more..


Author keywords

[No Author keywords available]

Indexed keywords

ARID1A PROTEIN; NOTCH1 RECEPTOR; PROTEIN; PROTEIN TYROSINE PHOSPHATASE SHP 2; TRANSCRIPTION FACTOR PAX5; UNCLASSIFIED DRUG; ZMYM3 PROTEIN; ZNF292 PROTEIN; 3' UNTRANSLATED REGION; ARID1A PROTEIN, HUMAN; CARRIER PROTEIN; DNA; NERVE PROTEIN; NOTCH1 PROTEIN, HUMAN; NUCLEAR PROTEIN; PAX5 PROTEIN, HUMAN; PTPN11 PROTEIN, HUMAN; TRANSCRIPTION FACTOR; ZMYM3 PROTEIN, HUMAN; ZNF292 PROTEIN, HUMAN;

EID: 84945248976     PISSN: 00280836     EISSN: 14764687     Source Type: Journal    
DOI: 10.1038/nature14666     Document Type: Article
Times cited : (721)

References (57)
  • 1
    • 84867154468 scopus 로고    scopus 로고
    • Molecular pathogenesis of chronic lymphocytic leukemia
    • Gaidano, G., Foa, R. & Dalla-Favera, R. Molecular pathogenesis of chronic lymphocytic leukemia. J. Clin. Invest. 122, 3432-3438 (2012).
    • (2012) J. Clin. Invest. , vol.122 , pp. 3432-3438
    • Gaidano, G.1    Foa, R.2    Dalla-Favera, R.3
  • 4
    • 0033567907 scopus 로고    scopus 로고
    • Unmutated Ig VH genes are associated with a more aggressive form of chronic lymphocytic leukemia
    • Hamblin, T. J., Davis, Z., Gardiner, A., Oscier, D. G. & Stevenson, F. K. Unmutated Ig VH genes are associated with a more aggressive form of chronic lymphocytic leukemia. Blood 94, 1848-1854 (1999).
    • (1999) Blood , vol.94 , pp. 1848-1854
    • Hamblin, T.J.1    Davis, Z.2    Gardiner, A.3    Oscier, D.G.4    Stevenson, F.K.5
  • 5
    • 0033567968 scopus 로고    scopus 로고
    • Ig v gene mutation status and CD38 expression as novel prognostic indicators in chronic lymphocytic leukemia
    • Damle, R. N. et al. Ig V gene mutation status and CD38 expression as novel prognostic indicators in chronic lymphocytic leukemia. Blood 94, 1840-1847 (1999).
    • (1999) Blood , vol.94 , pp. 1840-1847
    • Damle, R.N.1
  • 6
    • 0037406968 scopus 로고    scopus 로고
    • ZAP-70 expression as a surrogate for immunoglobulin-variableregion mutations in chronic lymphocytic leukemia
    • Crespo, M. et al. ZAP-70 expression as a surrogate for immunoglobulin-variableregion mutations in chronic lymphocytic leukemia. N. Engl. J. Med. 348, 1764-1775 (2003).
    • (2003) N. Engl. J. Med. , vol.348 , pp. 1764-1775
    • Crespo, M.1
  • 7
    • 84879419178 scopus 로고    scopus 로고
    • The biology and clinical significance of acquired genomic copy number aberrations and recurrent gene mutations in chronic lymphocytic leukemia
    • Malek, S. N. The biology and clinical significance of acquired genomic copy number aberrations and recurrent gene mutations in chronic lymphocytic leukemia. Oncogene 32, 2805-2817 (2013).
    • (2013) Oncogene , vol.32 , pp. 2805-2817
    • Malek, S.N.1
  • 8
    • 0034727833 scopus 로고    scopus 로고
    • Genomic aberrations and survival in chronic lymphocytic leukemia
    • Döhner, H. et al. Genomic aberrations and survival in chronic lymphocytic leukemia. N. Engl. J. Med. 343, 1910-1916 (2000).
    • (2000) N. Engl. J. Med. , vol.343 , pp. 1910-1916
    • Döhner, H.1
  • 9
    • 84555171449 scopus 로고    scopus 로고
    • Exome sequencing identifies recurrentmutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia
    • Quesada, V. et al. Exome sequencing identifies recurrentmutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia. Nature Genet. 44, 47-52 (2011).
    • (2011) Nature Genet. , vol.44 , pp. 47-52
    • Quesada, V.1
  • 10
    • 79960036578 scopus 로고    scopus 로고
    • Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia
    • Puente, X. S. et al. Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia. Nature 475, 101-105 (2011).
    • (2011) Nature , vol.475 , pp. 101-105
    • Puente, X.S.1
  • 11
    • 84874102335 scopus 로고    scopus 로고
    • Evolution and impact of subclonal mutations in chronic lymphocytic leukemia
    • Landau, D. A. et al. Evolution and impact of subclonal mutations in chronic lymphocytic leukemia. Cell 152, 714-726 (2013).
    • (2013) Cell , vol.152 , pp. 714-726
    • Landau, D.A.1
  • 12
    • 79960353160 scopus 로고    scopus 로고
    • Analysis of the chronic lymphocytic leukemia coding genome: Role of NOTCH1 mutational activation
    • Fabbri, G. et al. Analysis of the chronic lymphocytic leukemia coding genome: role of NOTCH1 mutational activation. J. Exp. Med. 208, 1389-1401 (2011).
    • (2011) J. Exp. Med. , vol.208 , pp. 1389-1401
    • Fabbri, G.1
  • 13
    • 84878551940 scopus 로고    scopus 로고
    • POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia
    • Ramsay, A. J. et al. POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia. Nature Genet. 45, 526-530 (2013).
    • (2013) Nature Genet. , vol.45 , pp. 526-530
    • Ramsay, A.J.1
  • 14
    • 84906908742 scopus 로고    scopus 로고
    • Acquired initiating mutations in early hematopoietic cells of CLL patients
    • Damm, F. et al. Acquired initiating mutations in early hematopoietic cells of CLL patients. Cancer Discov. 4, 1088-1101 (2014).
    • (2014) Cancer Discov. , vol.4 , pp. 1088-1101
    • Damm, F.1
  • 15
    • 84858859064 scopus 로고    scopus 로고
    • Disruption of BIRC3 associates with fludarabine chemorefractoriness in TP53 wild-type chronic lymphocytic leukemia
    • Rossi, D. et al. Disruption of BIRC3 associates with fludarabine chemorefractoriness in TP53 wild-type chronic lymphocytic leukemia. Blood 119, 2854-2862 (2012).
    • (2012) Blood , vol.119 , pp. 2854-2862
    • Rossi, D.1
  • 16
    • 84893699492 scopus 로고    scopus 로고
    • Transcriptomecharacterization byRNA sequencing identifies a major molecular and clinical subdivision in chronic lymphocytic leukemia
    • Ferreira, P. G. et al. Transcriptomecharacterization byRNA sequencing identifies a major molecular and clinical subdivision in chronic lymphocytic leukemia. Genome Res. 24, 212-226 (2014).
    • (2014) Genome Res. , vol.24 , pp. 212-226
    • Ferreira, P.G.1
  • 17
    • 84868198427 scopus 로고    scopus 로고
    • Epigenomic analysis detects widespread gene-body DNA hypomethylation in chronic lymphocytic leukemia
    • Kulis, M. et al. Epigenomic analysis detects widespread gene-body DNA hypomethylation in chronic lymphocytic leukemia. Nature Genet. 44, 1236-1242 (2012).
    • (2012) Nature Genet. , vol.44 , pp. 1236-1242
    • Kulis, M.1
  • 18
    • 84895783051 scopus 로고    scopus 로고
    • Evolution of DNA methylation is linked to genetic aberrations in chronic lymphocytic leukemia
    • Oakes, C. C. et al. Evolution of DNA methylation is linked to genetic aberrations in chronic lymphocytic leukemia. Cancer Discov. 4, 348-361 (2014).
    • (2014) Cancer Discov. , vol.4 , pp. 348-361
    • Oakes, C.C.1
  • 19
    • 77951115122 scopus 로고    scopus 로고
    • International network of cancer genome projects
    • Hudson, T. J. et al. International network of cancer genome projects. Nature 464, 993-998 (2010).
    • (2010) Nature , vol.464 , pp. 993-998
    • Hudson, T.J.1
  • 20
    • 84882837534 scopus 로고    scopus 로고
    • Signatures ofmutational processes in humancancer
    • Alexandrov, L. B. et al. Signatures ofmutational processes in humancancer. Nature 500, 415-421 (2013).
    • (2013) Nature , vol.500 , pp. 415-421
    • Alexandrov, L.B.1
  • 21
    • 84872779378 scopus 로고    scopus 로고
    • Recurrent targets of aberrant somatic hypermutation in lymphoma
    • Khodabakhshi, A. H. et al. Recurrent targets of aberrant somatic hypermutation in lymphoma. Oncotarget 3, 1308-1319 (2012).
    • (2012) Oncotarget , vol.3 , pp. 1308-1319
    • Khodabakhshi, A.H.1
  • 22
    • 0035913362 scopus 로고    scopus 로고
    • Hypermutation of multiple proto-oncogenes in B-cell diffuse large-cell lymphomas
    • Pasqualucci, L. et al. Hypermutation of multiple proto-oncogenes in B-cell diffuse large-cell lymphomas. Nature 412, 341-346 (2001).
    • (2001) Nature , vol.412 , pp. 341-346
    • Pasqualucci, L.1
  • 23
    • 84879748062 scopus 로고    scopus 로고
    • Targeting BTK with ibrutinib in relapsed chronic lymphocytic leukemia
    • Byrd, J. C. et al. Targeting BTK with ibrutinib in relapsed chronic lymphocytic leukemia. N. Engl. J. Med. 369, 32-42 (2013).
    • (2013) N. Engl. J. Med. , vol.369 , pp. 32-42
    • Byrd, J.C.1
  • 24
    • 84936754552 scopus 로고    scopus 로고
    • Comprehensive characterization of complex structural variations in cancer by directly comparing genome sequence reads
    • Moncunill, V. et al. Comprehensive characterization of complex structural variations in cancer by directly comparing genome sequence reads. Nature Biotechnol. 32, 1106-1112 (2014).
    • (2014) Nature Biotechnol. , vol.32 , pp. 1106-1112
    • Moncunill, V.1
  • 25
    • 78650959663 scopus 로고    scopus 로고
    • Massive genomic rearrangement acquired in a single catastrophic event during cancer development
    • Stephens, P. J. et al. Massive genomic rearrangement acquired in a single catastrophic event during cancer development. Cell 144, 27-40 (2011).
    • (2011) Cell , vol.144 , pp. 27-40
    • Stephens, P.J.1
  • 26
    • 84875757638 scopus 로고    scopus 로고
    • Punctuated evolution of prostate cancer genomes
    • Baca, S. C. et al. Punctuated evolution of prostate cancer genomes. Cell 153, 666-677 (2013).
    • (2013) Cell , vol.153 , pp. 666-677
    • Baca, S.C.1
  • 27
    • 84862907577 scopus 로고    scopus 로고
    • Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations
    • Rausch, T. et al. Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations. Cell 148, 59-71 (2012).
    • (2012) Cell , vol.148 , pp. 59-71
    • Rausch, T.1
  • 28
    • 84855860383 scopus 로고    scopus 로고
    • NOTCH1 mutations in CLL associated with trisomy 12
    • Balatti, V. et al. NOTCH1 mutations in CLL associated with trisomy 12. Blood 119, 329-331 (2012).
    • (2012) Blood , vol.119 , pp. 329-331
    • Balatti, V.1
  • 29
    • 84874189784 scopus 로고    scopus 로고
    • Highly recurrent TERT promoter mutations in human melanoma
    • Huang, F. W. et al. Highly recurrent TERT promoter mutations in human melanoma. Science 339, 957-959 (2013).
    • (2013) Science , vol.339 , pp. 957-959
    • Huang, F.W.1
  • 30
    • 78650308767 scopus 로고    scopus 로고
    • Deep-sequencing identification of the genomic targets of the cytidine deaminase AID and its cofactor RPA in B lymphocytes
    • Yamane, A. et al. Deep-sequencing identification of the genomic targets of the cytidine deaminase AID and its cofactor RPA in B lymphocytes. Nature Immunol. 12, 62-69 (2011).
    • (2011) Nature Immunol. , vol.12 , pp. 62-69
    • Yamane, A.1
  • 31
    • 84880507665 scopus 로고    scopus 로고
    • Mutational heterogeneity in cancer and the search for new cancer-associated genes
    • Lawrence, M. S. et al. Mutational heterogeneity in cancer and the search for new cancer-associated genes. Nature 499, 214-218 (2013).
    • (2013) Nature , vol.499 , pp. 214-218
    • Lawrence, M.S.1
  • 32
    • 35748956435 scopus 로고    scopus 로고
    • An evaluation of 3C-basedmethods to capture DNA interactions
    • Simonis, M.,Kooren, J.&de Laat,W.An evaluation of 3C-basedmethods to capture DNA interactions. Nature Methods 4, 895-901 (2007).
    • (2007) Nature Methods , vol.4 , pp. 895-901
    • Simonis, M.1    Kooren, J.2    De Laat, W.3
  • 33
    • 84864147148 scopus 로고    scopus 로고
    • The B-cell identity factor Pax5 regulates distinct transcriptional programmes in early and late B lymphopoiesis
    • Revilla-i-Domingo, R. et al. The B-cell identity factor Pax5 regulates distinct transcriptional programmes in early and late B lymphopoiesis. EMBO J. 31, 3130-3146 (2012).
    • (2012) EMBO J. , vol.31 , pp. 3130-3146
    • Revilla-I-Domingo, R.1
  • 34
    • 84924540077 scopus 로고    scopus 로고
    • A B-cell epigenetic signature defines three biologic subgroups of chronic lymphocytic leukemia with clinical impact
    • Queiró s, A. C. et al. A B-cell epigenetic signature defines three biologic subgroups of chronic lymphocytic leukemia with clinical impact. Leukemia 29, 598-605 (2015).
    • (2015) Leukemia , vol.29 , pp. 598-605
    • Queiró, S.A.C.1
  • 35
    • 84887317173 scopus 로고    scopus 로고
    • Distinct patterns of novel gene mutations in poor-prognostic stereotyped subsets of chronic lymphocytic leukemia: The case of SF3B1 and subset #2
    • Strefford, J. C. et al. Distinct patterns of novel gene mutations in poor-prognostic stereotyped subsets of chronic lymphocytic leukemia: the case of SF3B1 and subset #2. Leukemia 27, 2196-2199 (2013).
    • (2013) Leukemia , vol.27 , pp. 2196-2199
    • Strefford, J.C.1
  • 36
    • 84861033763 scopus 로고    scopus 로고
    • Stereotyped B-cell receptors in one-third of chronic lymphocytic leukemia: A molecular classification with implications for targeted therapies
    • Agathangelidis, A. et al. Stereotyped B-cell receptors in one-third of chronic lymphocytic leukemia: a molecular classification with implications for targeted therapies. Blood 119, 4467-4475 (2012).
    • (2012) Blood , vol.119 , pp. 4467-4475
    • Agathangelidis, A.1
  • 37
    • 84924279179 scopus 로고    scopus 로고
    • In silico prescription of anticancer drugs to cohorts of 28 tumor types reveals targeting opportunities
    • Rubio-Perez, C. et al. In silico prescription of anticancer drugs to cohorts of 28 tumor types reveals targeting opportunities. Cancer Cell 27, 382-396 (2015).
    • (2015) Cancer Cell , vol.27 , pp. 382-396
    • Rubio-Perez, C.1
  • 38
    • 80555129351 scopus 로고    scopus 로고
    • Oncogenic and tumor suppressor functions of Notch in cancer: It's NOTCH what you think
    • Lobry, C., Oh, P. & Aifantis, I. Oncogenic and tumor suppressor functions of Notch in cancer: it's NOTCH what you think. J. Exp. Med. 208, 1931-1935 (2011).
    • (2011) J. Exp. Med. , vol.208 , pp. 1931-1935
    • Lobry, C.1    Oh, P.2    Aifantis, I.3
  • 39
    • 84255170476 scopus 로고    scopus 로고
    • The Pax-5 gene: A pluripotent regulator of B-cell differentiation and cancer disease
    • O'Brien, P., Morin, P. Jr, Ouellette, R. J. & Robichaud, G. A. The Pax-5 gene: a pluripotent regulator of B-cell differentiation and cancer disease. Cancer Res. 71, 7345-7350 (2011).
    • (2011) Cancer Res. , vol.71 , pp. 7345-7350
    • O'Brien, P.1    Morin, P.2    Ouellette, R.J.3    Robichaud, G.A.4
  • 40
    • 84877635463 scopus 로고    scopus 로고
    • NOTCH1 mutations identify a genetic subgroup of chronic lymphocytic leukemia patientswith high risk of transformation and poor outcome
    • Villamor, N. et al. NOTCH1 mutations identify a genetic subgroup of chronic lymphocytic leukemia patientswith high risk of transformation and poor outcome. Leukemia 27, 1100-1106 (2013).
    • (2013) Leukemia , vol.27 , pp. 1100-1106
    • Villamor, N.1
  • 41
    • 55549089660 scopus 로고    scopus 로고
    • Accurate whole human genome sequencing using reversible terminator chemistry
    • Bentley, D. R. et al. Accurate whole human genome sequencing using reversible terminator chemistry. Nature 456, 53-59 (2008).
    • (2008) Nature , vol.456 , pp. 53-59
    • Bentley, D.R.1
  • 42
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows-Wheeler transform
    • Li, H. & Durbin, R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25, 1754-1760 (2009).
    • (2009) Bioinformatics , vol.25 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 43
    • 68549104404 scopus 로고    scopus 로고
    • The Sequence Alignment/Map format and SAMtools
    • Li, H. et al. The Sequence Alignment/Map format and SAMtools. Bioinformatics 25, 2078-2079 (2009).
    • (2009) Bioinformatics , vol.25 , pp. 2078-2079
    • Li, H.1
  • 44
    • 79960036578 scopus 로고    scopus 로고
    • Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia
    • Puente, X. S. et al. Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia. Nature 475, 101-105 (2011).
    • (2011) Nature , vol.475 , pp. 101-105
    • Puente, X.S.1
  • 46
    • 84908464494 scopus 로고    scopus 로고
    • Genomic complexity and IGHV mutational status are key predictors of outcome of chronic lymphocytic leukemia patients with TP53 disruption
    • Delgado, J. et al. Genomic complexity and IGHV mutational status are key predictors of outcome of chronic lymphocytic leukemia patients with TP53 disruption. Haematologica 99, e231-e234 (2014).
    • (2014) Haematologica , vol.99 , pp. e231-e234
    • Delgado, J.1
  • 47
    • 84870763388 scopus 로고    scopus 로고
    • High-resolution genomic profiling of chronic lymphocytic leukemia reveals new recurrent genomic alterations
    • Edelmann, J. et al. High-resolution genomic profiling of chronic lymphocytic leukemia reveals new recurrent genomic alterations. Blood 120, 4783-4794 (2012).
    • (2012) Blood , vol.120 , pp. 4783-4794
    • Edelmann, J.1
  • 49
    • 80053304450 scopus 로고    scopus 로고
    • High density DNA methylation array with single CpG site resolution
    • Bibikova, M. et al. High density DNA methylation array with single CpG site resolution. Genomics 98, 288-295 (2011).
    • (2011) Genomics , vol.98 , pp. 288-295
    • Bibikova, M.1
  • 50
    • 84856306090 scopus 로고    scopus 로고
    • Genome-wide DNA methylation profiling using InfiniumR assay
    • Bibikova, M. et al. Genome-wide DNA methylation profiling using InfiniumR assay. Epigenomics 1, 177-200 (2009).
    • (2009) Epigenomics , vol.1 , pp. 177-200
    • Bibikova, M.1
  • 51
    • 84897548625 scopus 로고    scopus 로고
    • Minfi: A flexible and comprehensive Bioconductor package for the analysis of InfiniumDNAmethylationmicroarrays
    • Aryee,M. J. et al. Minfi: a flexible and comprehensive Bioconductor package for the analysis of InfiniumDNAmethylationmicroarrays. Bioinformatics 30, 1363-1369 (2014).
    • (2014) Bioinformatics , vol.30 , pp. 1363-1369
    • Aryee, M.J.1
  • 52
    • 84879171190 scopus 로고    scopus 로고
    • Gauging NOTCH1 activation in cancer using immunohistochemistry
    • Kluk, M. J. et al. Gauging NOTCH1 activation in cancer using immunohistochemistry. PLoS ONE 8, e67306 (2013).
    • (2013) PLoS ONE , vol.8
    • Kluk, M.J.1
  • 53
    • 84867003195 scopus 로고    scopus 로고
    • Robust4C-seq data analysis to screen for regulatoryDNA interactions
    • van deWerken, H. J. et al.Robust4C-seq data analysis to screen for regulatoryDNA interactions. Nature Methods 9, 969-972 (2012).
    • (2012) Nature Methods , vol.9 , pp. 969-972
    • Van Dewerken, H.J.1
  • 54
    • 84865502890 scopus 로고    scopus 로고
    • 4C technology: Protocols and data analysis
    • van de Werken, H. J. et al. 4C technology: protocols and data analysis. Methods Enzymol. 513, 89-112 (2012).
    • (2012) Methods Enzymol. , vol.513 , pp. 89-112
    • Van De Werken, H.J.1
  • 55
    • 84911422892 scopus 로고    scopus 로고
    • Generation of mouse models of myeloid malignancy with combinatorial genetic lesions using CRISPR-Cas9 genome editing
    • Heckl, D. et al. Generation of mouse models of myeloid malignancy with combinatorial genetic lesions using CRISPR-Cas9 genome editing. Nature Biotechnol. 32, 941-946 (2014).
    • (2014) Nature Biotechnol. , vol.32 , pp. 941-946
    • Heckl, D.1
  • 56
    • 84893287073 scopus 로고    scopus 로고
    • E-CRISP: Fast CRISPR target site identification
    • Heigwer, F., Kerr, G. & Boutros, M. E-CRISP: fast CRISPR target site identification. Nature Methods 11, 122-123 (2014).
    • (2014) Nature Methods , vol.11 , pp. 122-123
    • Heigwer, F.1    Kerr, G.2    Boutros, M.3
  • 57
    • 0015898827 scopus 로고
    • Conservatism of the approximation sigma (O-E)2-E in the logrank test for survival data or tumor incidence data
    • Peto, R. & Pike, M. C. Conservatism of the approximation sigma (O-E)2-E in the logrank test for survival data or tumor incidence data. Biometrics 29, 579-584 (1973).
    • (1973) Biometrics , vol.29 , pp. 579-584
    • Peto, R.1    Pike, M.C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.