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@ARTICLE{Mateos:299789,
      author       = {M. K. Mateos and P. Ajuyah and N. Fuentes-Bolanos and S.
                      El-Kamand and P. Barahona and A.-K. Altekoester and C. Mayoh
                      and H. Holliday and J. Liu and L. Cui and E. Pfaff$^*$ and
                      A. Mackay and A. C. Resnick and M. Pinese and L. M. S. Lau
                      and D.-A. Khuong-Quang and K. Dias and C. Goudie and A.
                      Salkeld and J. L. Rokita and D. T. W. Jones$^*$ and N.
                      Juretic and E. Hayden and S. M. Pfister$^*$ and C. M. Kramm
                      and M. Blattner-Johnson$^*$ and N. Jabado and M. Tsoli and
                      O. Vittorio and S. Mueller and Y. Guo and K. Tucker and S.
                      M. Waszak and S. Perreault and C. Jones and M. Wong-Erasmus
                      and M. J. Cowley and D. S. Ziegler},
      title        = {{G}ermline analysis of an international cohort of pediatric
                      diffuse midline glioma patients.},
      journal      = {Neuro-Oncology},
      volume       = {27},
      number       = {7},
      issn         = {1522-8517},
      address      = {Oxford},
      publisher    = {Oxford Univ. Press},
      reportid     = {DKFZ-2025-00544},
      pages        = {1849-1863},
      year         = {2025},
      note         = {2025 Sep 8;27(7):1849-1863},
      abstract     = {Factors that drive the development of diffuse midline
                      gliomas (DMG) are unknown. Our study aimed to determine the
                      prevalence of pathogenic/likely pathogenic (P/LP) germline
                      variants in pediatric patients with DMG.We assembled an
                      international cohort of 252 pediatric patients with DMG,
                      including diffuse intrinsic pontine glioma (n=153), with
                      germline whole genome or whole exome sequencing.We
                      identified P/LP germline variants in cancer predisposition
                      genes in $7.5\%$ (19/252) of patients. Tumor profiles
                      differed, with absence of somatic drivers in the PI3K/mTOR
                      pathway in patients with germline P/LP variants versus those
                      without (P = 0.023). P/LP germline variants were recurrent
                      in homologous recombination (n=9; BRCA1, BRCA2, PALB2) and
                      Fanconi anemia genes (n=4). Somatic findings established
                      that the germline variants definitively contributed to
                      tumorigenesis in at least $1\%$ of cases. One patient with
                      recurrent DMG and pathogenic germline variants (BRCA2,
                      FANCE) showed near-complete radiological response to PARP
                      and immune checkpoint inhibition.Our study determined the
                      prevalence of pathogenic germline variants in pediatric DMG,
                      and suggests a role in tumorigenesis for a subset of
                      patients.},
      keywords     = {PARP inhibitor (Other) / diffuse midline glioma (Other) /
                      germline variants (Other) / homologous recombination (Other)
                      / pediatric (Other)},
      cin          = {B360 / B062 / HD01},
      ddc          = {610},
      cid          = {I:(DE-He78)B360-20160331 / I:(DE-He78)B062-20160331 /
                      I:(DE-He78)HD01-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40072012},
      doi          = {10.1093/neuonc/noaf061},
      url          = {https://inrepo02.dkfz.de/record/299789},
}