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@ARTICLE{Hutter:128815,
      author       = {S. Hutter$^*$ and R. M. Piro$^*$ and S. M. Waszak and H.
                      Kehrer-Sawatzki and R. E. Friedrich and A. Lassaletta and O.
                      Witt$^*$ and J. O. Korbel and P. Lichter$^*$ and M. U.
                      Schuhmann$^*$ and S. Pfister$^*$ and U. Tabori and V. F.
                      Mautner and D. Jones$^*$},
      title        = {{N}o correlation between {NF}1 mutation position and risk
                      of optic pathway glioma in 77 unrelated {NF}1 patients.},
      journal      = {Human genetics},
      volume       = {135},
      number       = {5},
      issn         = {1432-1203},
      address      = {Berlin},
      publisher    = {Springer},
      reportid     = {DKFZ-2017-04828},
      pages        = {469 - 475},
      year         = {2016},
      abstract     = {Neurofibromatosis type 1 (NF1) is a common monogenic
                      disorder whereby affected individuals are predisposed to
                      developing CNS tumors, including optic pathway gliomas
                      (OPGs, occurring in ~15 to $20 \%$ of cases). So far, no
                      definite genotype-phenotype correlation determining NF1
                      patients at risk for tumor formation has been described,
                      although enrichment for mutations in the 5' region of the
                      NF1 gene in OPG patients has been suggested. We used whole
                      exome sequencing, targeted sequencing, and copy number
                      analysis to screen 77 unrelated NF1 patients with (n = 41)
                      or without (n = 36; age ≥10 years) optic pathway
                      glioma for germline NF1 alterations. We identified germline
                      NF1 mutations in 69 of 77 patients $(90 \%),$ but no
                      genotype-phenotype correlation was observed. Our data using
                      a larger patient cohort did not confirm the previously
                      reported clustering of mutations in the 5' region of the NF1
                      gene in patients with OPG. Thus, NF1 mutation location
                      should not currently be used as a clinical criterion to
                      assess the risk of developing OPGs.},
      keywords     = {Neurofibromin 1 (NLM Chemicals)},
      cin          = {B062 / B060 / G340 / L101 / L801},
      ddc          = {610},
      cid          = {I:(DE-He78)B062-20160331 / I:(DE-He78)B060-20160331 /
                      I:(DE-He78)G340-20160331 / I:(DE-He78)L101-20160331 /
                      I:(DE-He78)L801-20160331},
      pnm          = {312 - Functional and structural genomics (POF3-312)},
      pid          = {G:(DE-HGF)POF3-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:26969325},
      doi          = {10.1007/s00439-016-1646-x},
      url          = {https://inrepo02.dkfz.de/record/128815},
}