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Showing 1–9 of 9 results
Advanced filters: Author: Edward F. Attiyeh Clear advanced filters

  • Here, single nucleotide variants within the LMO1 locus are shown to be associated with inherited susceptibility to neuroblastoma, a childhood cancer of the sympathetic nervous system. Acquired structural variation in the same locus was also frequently found in neuroblastoma patients, leading to the suggestion that loci identified through genome-wide association studies might be also prone to somatic alterations and therefore identify potential therapy targets and/or biomarkers of tumour aggressiveness.

    • Kai Wang
    • Sharon J. Diskin
    • John M. Maris
    Research
    Nature
    Volume: 469, P: 216-220

  • John Maris and colleagues report results of a genome-wide association and replication study for aggressive neuroblastoma. They show that common variants in the BARD1 locus at 2q35 are strongly associated with the disease.

    • Mario Capasso
    • Marcella Devoto
    • John M Maris
    Research
    Nature Genetics
    Volume: 41, P: 718-723

  • John Maris, Jan Molenaar, Gudrun Schleiermacher and colleagues performed whole-genome sequencing of 23 paired diagnostic and relapsed neuroblastomas, showing enrichment for mutations in the RAS-MAPK signaling pathway. These mutations render neuroblastoma cell lines susceptible to MEK inhibition.

    • Thomas F Eleveld
    • Derek A Oldridge
    • John M Maris
    Research
    Nature Genetics
    Volume: 47, P: 864-871

  • Chromosomal abnormalities such as 11q deletion are associated with poor prognosis in neuroblastoma. Here, the authors perform a genome-wide association study and identify an association between a variant within a Matrix metalloproteinase (MMP) gene member, MMP20, and 11q-deletion subtype neuroblastoma.

    • Xiao Chang
    • Yan Zhao
    • Hakon Hakonarson
    ResearchOpen Access
    Nature Communications
    Volume: 8, P: 1-7

  • ALK is identified as a neuroblastoma predisposition gene. Germline mutations were found in ALK, a tryrosine kinase receptor, in affected families. In addition, somatic point mutations in ALK were found in sporadic cases of neuroblastomas. ALK mutations seem to lead to constitutive activation of its kinase activity and promote cell proliferation.

    • Yaël P. Mossé
    • Marci Laudenslager
    • John M. Maris
    Research
    Nature
    Volume: 455, P: 930-935

  • Copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) are two important potential sources of phenotypic variation in humans; however, only SNPs have been associated with cancer. Here, a CNV at 1q21.1 is shown to be associated with neuroblastoma, and a transcript within this CNV, NBPF23, is implicated in early tumorigenesis of the disease.

    • Sharon J. Diskin
    • Cuiping Hou
    • John M. Maris
    Research
    Nature
    Volume: 459, P: 987-991

  • John Maris, Matthew Meyerson, Marco Marra and colleagues report results of a large-scale sequencing study of neuroblastoma. They observe a low median exonic mutation frequency and strikingly few recurrently mutated genes in these tumors, highlighting challenges for developing targeted therapeutic strategies based on frequently mutated oncogenic drivers.

    • Trevor J Pugh
    • Olena Morozova
    • John M Maris
    Research
    Nature Genetics
    Volume: 45, P: 279-284