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Volumn 5, Issue , 2015, Pages

The 9p21.3 risk of childhood acute lymphoblastic leukaemia is explained by a rare high-impact variant in CDKN2A

(27)  Vijayakrishnan, Jayaram a   Henrion, Marc a   Moorman, Anthony V c   Fiege, Bettina d   Kumar, Rajiv b   Inacio Da Silva Filho, Miguel b   Holroyd, Amy b   Koehler, Rolf c   Thomsen, Hauke b   Irving, Julie A d   Allan, James M d   Lightfoot, Tracy e   Roman, Eve e   Kinsey, Sally E f,g   Sheridan, Eamonn g   Thompson, Pamela D h   Hoffmann, Per i,o   Nöthen, Markus M i,p   Mühleisen, Thomas W i,j   Eisele, Lewin k   more..


Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 2A;

EID: 84944706694     PISSN: None     EISSN: 20452322     Source Type: Journal    
DOI: 10.1038/srep15065     Document Type: Article
Times cited : (24)

References (29)
  • 1
    • 0030457758 scopus 로고    scopus 로고
    • Geographic and ethnic variations in the incidence of childhood cancer
    • Stiller, C. A. & Parkin, D. M. Geographic and ethnic variations in the incidence of childhood cancer. Br Med Bull 52, 682-703 (1996).
    • (1996) Br Med Bull , vol.52 , pp. 682-703
    • Stiller, C.A.1    Parkin, D.M.2
  • 2
    • 84869086592 scopus 로고    scopus 로고
    • Familial risks for childhood acute lymphocytic leukaemia in Sweden and Finland: Far exceeding the effects of known germline variants
    • Kharazmi, E. et al. Familial risks for childhood acute lymphocytic leukaemia in Sweden and Finland: far exceeding the effects of known germline variants. Br J Haematol 159, 585-8 (2012).
    • (2012) Br J Haematol , vol.159 , pp. 585-588
    • Kharazmi, E.1
  • 3
    • 69349101565 scopus 로고    scopus 로고
    • Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia
    • Papaemmanuil, E. et al. Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia. Nat Genet 41, 1006-10 (2009).
    • (2009) Nat Genet , vol.41 , pp. 1006-1010
    • Papaemmanuil, E.1
  • 4
    • 35648977025 scopus 로고    scopus 로고
    • National study of colorectal cancer genetics
    • Penegar, S. et al. National study of colorectal cancer genetics. Br J Cancer 97, 1305-9 (2007).
    • (2007) Br J Cancer , vol.97 , pp. 1305-1309
    • Penegar, S.1
  • 5
    • 84903147593 scopus 로고    scopus 로고
    • SuSPect: Enhanced prediction of single amino acid variant (SAV) phenotype using network features
    • Yates, C. M., Filippis, I., Kelley, L. A. & Sternberg, M. J. SuSPect: enhanced prediction of single amino acid variant (SAV) phenotype using network features. J Mol Biol 426, 2692-701 (2014).
    • (2014) J Mol Biol , vol.426 , pp. 2692-2701
    • Yates, C.M.1    Filippis, I.2    Kelley, L.A.3    Sternberg, M.J.4
  • 6
    • 0033013780 scopus 로고    scopus 로고
    • Assay Transfectionbased A Using Variants P16 of Reassessment Functional K. H.N.
    • Walker, G. J., Gabrielli, B. G., Castellano, M. & Hayward, N. K. Functional reassessment of P16 variants using a transfectionbased assay. Int J Cancer 82, 305-12 (1999).
    • (1999) Int J Cancer , vol.82 , pp. 305-312
    • Walker, G.J.1    Gabrielli, B.G.2    Castellano, M.3
  • 7
    • 59449093453 scopus 로고    scopus 로고
    • A comprehensive analysis of the CDKN2A gene in childhood acute lymphoblastic leukemia reveals genomic deletion, copy number neutral loss of heterozygosity, and association with specific cytogenetic subgroups
    • Sulong, S. et al. A comprehensive analysis of the CDKN2A gene in childhood acute lymphoblastic leukemia reveals genomic deletion, copy number neutral loss of heterozygosity, and association with specific cytogenetic subgroups. Blood 113, 100-7 (2009).
    • (2009) Blood , vol.113 , pp. 100-107
    • Sulong, S.1
  • 8
    • 84879593764 scopus 로고    scopus 로고
    • Genes commonly deleted in childhood B-cell precursor acute lymphoblastic leukemia: Association with cytogenetics and clinical features
    • Schwab, C. J. et al. Genes commonly deleted in childhood B-cell precursor acute lymphoblastic leukemia: association with cytogenetics and clinical features. Haematologica 98, 1081-8 (2013).
    • (2013) Haematologica , vol.98 , pp. 1081-1088
    • Schwab, C.J.1
  • 9
    • 77951751194 scopus 로고    scopus 로고
    • Acquisition of genome-wide copy number alterations in monozygotic twins with acute lymphoblastic leukemia
    • Bateman, C. M. et al. Acquisition of genome-wide copy number alterations in monozygotic twins with acute lymphoblastic leukemia. Blood 115, 3553-8 (2010).
    • (2010) Blood , vol.115 , pp. 3553-3558
    • Bateman, C.M.1
  • 10
    • 84873567677 scopus 로고    scopus 로고
    • Prognostic value of genetic alterations in children with first bone marrow relapse of childhood B-cell precursor acute lymphoblastic leukemia
    • Krentz, S. et al. Prognostic value of genetic alterations in children with first bone marrow relapse of childhood B-cell precursor acute lymphoblastic leukemia. Leukemia 27, 295-304 (2013).
    • (2013) Leukemia , vol.27 , pp. 295-304
    • Krentz, S.1
  • 11
    • 84866002291 scopus 로고    scopus 로고
    • The cBio cancer genomics portal: An open platform for exploring multidimensional cancer genomics data
    • Cerami, E. et al. The cBio cancer genomics portal: an open platform for exploring multidimensional cancer genomics data. Cancer Discov 2, 401-4 (2012).
    • (2012) Cancer Discov , vol.2 , pp. 401-404
    • Cerami, E.1
  • 12
    • 84903585835 scopus 로고    scopus 로고
    • Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer
    • Wang, Y. et al. Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer. Nat Genet 46, 736-41 (2014).
    • (2014) Nat Genet , vol.46 , pp. 736-741
    • Wang, Y.1
  • 13
    • 84905646607 scopus 로고    scopus 로고
    • Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis
    • Whiffin, N. et al. Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis. Hum Mol Genet 23, 4729-37 (2014).
    • (2014) Hum Mol Genet , vol.23 , pp. 4729-4737
    • Whiffin, N.1
  • 14
    • 84870988159 scopus 로고    scopus 로고
    • Genome-wide association study of glioma and meta-analysis
    • Rajaraman, P. et al. Genome-wide association study of glioma and meta-analysis. Hum Genet 131, 1877-88 (2012).
    • (2012) Hum Genet , vol.131 , pp. 1877-1888
    • Rajaraman, P.1
  • 15
    • 84891371778 scopus 로고    scopus 로고
    • A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia
    • Speedy, H. E. et al. A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. Nat Genet 46, 56-60 (2014).
    • (2014) Nat Genet , vol.46 , pp. 56-60
    • Speedy, H.E.1
  • 16
    • 0034054133 scopus 로고    scopus 로고
    • The United Kingdom Childhood Cancer Study: Objectives, materials and methods
    • The United Kingdom Childhood Cancer Study: objectives, materials and methods. UK Childhood Cancer Study Investigators. Br J Cancer 82, 1073-102 (2000).
    • (2000) UK Childhood Cancer Study Investigators. Br J Cancer , vol.82 , pp. 1073-1102
  • 17
    • 84891671233 scopus 로고    scopus 로고
    • Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype
    • Migliorini, G. et al. Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype. Blood 122, 3298-307 (2013).
    • (2013) Blood , vol.122 , pp. 3298-3307
    • Migliorini, G.1
  • 18
    • 34548292504 scopus 로고    scopus 로고
    • PLINK: A tool set for whole-genome association and population-based linkage analyses
    • Purcell, S. et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81, 559-75 (2007).
    • (2007) Am J Hum Genet , vol.81 , pp. 559-575
    • Purcell, S.1
  • 19
    • 34347344976 scopus 로고    scopus 로고
    • A new multipoint method for genome-wide association studies by imputation of genotypes
    • Marchini, J., Howie, B., Myers, S., McVean, G. & Donnelly, P. A new multipoint method for genome-wide association studies by imputation of genotypes. Nat Genet 39, 906-13 (2007).
    • (2007) Nat Genet , vol.39 , pp. 906-913
    • Marchini, J.1    Howie, B.2    Myers, S.3    McVean, G.4    Donnelly, P.5
  • 20
    • 27644546712 scopus 로고    scopus 로고
    • Population structure, differential bias and genomic control in a large-scale, case-control association study
    • Clayton, D. G. et al. Population structure, differential bias and genomic control in a large-scale, case-control association study. Nat Genet 37, 1243-6 (2005).
    • (2005) Nat Genet , vol.37 , pp. 1243-1246
    • Clayton, D.G.1
  • 21
    • 33746512512 scopus 로고    scopus 로고
    • Principal components analysis corrects for stratification in genome-wide association studies
    • Price, A. L. et al. Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 38, 904-9 (2006).
    • (2006) Nat Genet , vol.38 , pp. 904-909
    • Price, A.L.1
  • 22
    • 0037098199 scopus 로고    scopus 로고
    • Quantifying heterogeneity in a meta-analysis
    • Higgins, J. P. & Thompson, S. G. Quantifying heterogeneity in a meta-analysis. Stat Med 21, 1539-58 (2002).
    • (2002) Stat Med , vol.21 , pp. 1539-1558
    • Higgins, J.P.1    Thompson, S.G.2
  • 23
    • 0030922816 scopus 로고    scopus 로고
    • Bias in meta-analysis detected by a simple, graphical test
    • Egger, M., Smith, G. D., Schneider, M. & Minder, C. Bias in meta-analysis detected by a simple, graphical test. BMJ 315, 629-634 (1997).
    • (1997) BMJ , vol.315 , pp. 629-634
    • Egger, M.1    Smith, G.D.2    Schneider, M.3    Minder, C.4
  • 24
    • 26844482093 scopus 로고    scopus 로고
    • A fine-scale map of recombination rates and hotspots across the human genome
    • Myers, S., Bottolo, L., Freeman, C., McVean, G. & Donnelly, P. A fine-scale map of recombination rates and hotspots across the human genome. Science 310, 321-4 (2005).
    • (2005) Science , vol.310 , pp. 321-324
    • Myers, S.1    Bottolo, L.2    Freeman, C.3    McVean, G.4    Donnelly, P.5
  • 25
    • 18444369013 scopus 로고    scopus 로고
    • The structure of haplotype blocks in the human genome
    • Gabriel, S. B. et al. The structure of haplotype blocks in the human genome. Science 296, 2225-9 (2002).
    • (2002) Science , vol.296 , pp. 2225-2229
    • Gabriel, S.B.1
  • 26
    • 22244452677 scopus 로고    scopus 로고
    • Distribution and intensity of constraint in mammalian genomic sequence
    • Cooper, G. M. et al. Distribution and intensity of constraint in mammalian genomic sequence. Genome Res 15, 901-13 (2005).
    • (2005) Genome Res , vol.15 , pp. 901-913
    • Cooper, G.M.1
  • 27
    • 23744458086 scopus 로고    scopus 로고
    • Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes
    • Siepel, A. et al. Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Res 15, 1034-50 (2005).
    • (2005) Genome Res , vol.15 , pp. 1034-1050
    • Siepel, A.1
  • 28
    • 84923324232 scopus 로고    scopus 로고
    • VisPIG--a web tool for producing multi-region, multi-track, multi-scale plots of genetic data
    • Scales, M., Jager, R., Migliorini, G., Houlston, R. S. & Henrion, M. Y. visPIG--a web tool for producing multi-region, multi-track, multi-scale plots of genetic data. PLoS One 9, e107497 (2014).
    • (2014) PLoS One , vol.9 , pp. e107497
    • Scales, M.1    Jager, R.2    Migliorini, G.3    Houlston, R.S.4    Henrion, M.Y.5
  • 29
    • 79955583542 scopus 로고    scopus 로고
    • Mapping and analysis of chromatin state dynamics in nine human cell types
    • Ernst, J. et al. Mapping and analysis of chromatin state dynamics in nine human cell types. Nature 473, 43-9 (2011).
    • (2011) Nature , vol.473 , pp. 43-49
    • Ernst, J.1


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