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@ARTICLE{KrieghoffHenning:306594,
      author       = {E. Krieghoff-Henning$^*$ and T. Michaeli$^*$ and T.
                      Boch$^*$ and J. Kirchhof and V. Haselmann and M. Neumaier
                      and W.-K. Hofmann and J. Betge$^*$ and M. Ebert and A.
                      Teufel and V. Ast and C. Sauer and C. Cotarelo and R.
                      Lozynskyy$^*$ and M. Janning$^*$ and F. Marmé and M.
                      Sütterlin and A. Streuer and F. Siegel and C. Brochhausen
                      and M. Collienne$^*$ and D. Nowak and S. Loges$^*$},
      title        = {{C}linical benefit of additional whole-exome sequencing
                      over panel sequencing in an all-comer real-world molecular
                      tumor board.},
      journal      = {ESMO open},
      volume       = {10},
      number       = {12},
      issn         = {2059-7029},
      address      = {[London]},
      publisher    = {Elsevier},
      reportid     = {DKFZ-2025-02633},
      pages        = {105894},
      year         = {2025},
      note         = {DKFZ-ZMBH Alliance / #EA:A420#EA:B340#LA:A420#},
      abstract     = {Panel sequencing, whole-exome sequencing (WES) and
                      whole-genome sequencing (WGS) often uncover therapeutic
                      targets for cancer patients. However, it is still largely
                      unclear to what extent patients directly benefit from
                      broader analyses over panel sequencing alone.We analyzed the
                      molecular findings and recommendations issued by our
                      molecular tumor board (MTB) in a cohort of patients who had
                      received both a well-established diagnostic panel of medium
                      size (up to 203 genes) and in-house WES, focusing on the
                      number of recommendations that were issued on the basis of
                      WES results only.Our cohort consisted of 38 patients with
                      advanced cancers, of whom about two-thirds had common and
                      one-third had rare cancers. They received a total of 45
                      (range 0-4) treatment recommendations overall, of which 29
                      had a clinical level of evidence (LoE) and/or entailed a
                      feasible study enrollment and were thus considered highly
                      actionable. Sixteen recommendations, of which seven were
                      highly actionable, were issued only on the basis of WES
                      results (five own, two previous WES). Three out of those
                      seven recommendations and one additional recommendation
                      based on a previous large panel were related to complex
                      molecular biomarkers such as homologous recombination
                      deficiency or high tumor mutational burden, with poly
                      (ADP-ribose) polymerase inhibitors or checkpoint inhibitors
                      as recommended treatment. As expected, a higher proportion
                      of the WES-only recommendations $(63\%$ versus $42\%$ of
                      recommendations overall) were based on non-clinical LoEs.
                      One of eight recommendations implemented so far was based on
                      biomarkers derived by WES only.In our MTB, WES enabled some
                      additional clinically highly actionable recommendations for
                      selected patients, suggesting that some patients do benefit
                      from additional WES. These recommendations were often
                      related to complex biomarkers, which may in principle also
                      be derived from larger panels. These findings should be
                      re-investigated prospectively in larger cohorts.},
      keywords     = {WES (Other) / biomarkers (Other) / molecular tumor board
                      (Other) / panel sequencing (Other) / whole-exome sequencing
                      (Other)},
      cin          = {A420 / B340 / A010 / B440 / HD01},
      ddc          = {610},
      cid          = {I:(DE-He78)A420-20160331 / I:(DE-He78)B340-20160331 /
                      I:(DE-He78)A010-20160331 / I:(DE-He78)B440-20160331 /
                      I:(DE-He78)HD01-20160331},
      pnm          = {311 - Zellbiologie und Tumorbiologie (POF4-311)},
      pid          = {G:(DE-HGF)POF4-311},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:41297163},
      doi          = {10.1016/j.esmoop.2025.105894},
      url          = {https://inrepo02.dkfz.de/record/306594},
}