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@ARTICLE{Kayser:141874,
      author       = {K. Kayser and F. Degenhardt and S. Holzapfel and S.
                      Horpaopan and S. Peters and I. Spier and M. Morak and D.
                      Vangala and N. Rahner and M. von Knebel-Doeberitz$^*$ and H.
                      K. Schackert and C. Engel and R. Büttner and J. Wijnen and
                      T. Doerks and P. Bork and S. Moebus and S. Herms and S.
                      Fischer and P. Hoffmann and S. Aretz and V. Steinke-Lange},
      title        = {{C}opy number variation analysis and targeted {NGS} in 77
                      families with suspected {L}ynch syndrome reveals novel
                      potential causative genes.},
      journal      = {International journal of cancer},
      volume       = {143},
      number       = {11},
      issn         = {0020-7136},
      address      = {Bognor Regis},
      publisher    = {Wiley-Liss},
      reportid     = {DKFZ-2018-02131},
      pages        = {2800 - 2813},
      year         = {2018},
      abstract     = {In many families with suspected Lynch syndrome (LS), no
                      germline mutation in the causative mismatch repair (MMR)
                      genes is detected during routine diagnostics. To identify
                      novel causative genes for LS, the present study investigated
                      77 unrelated, mutation-negative patients with clinically
                      suspected LS and a loss of MSH2 in tumor tissue. An analysis
                      for genomic copy number variants (CNV) was performed, with
                      subsequent next generation sequencing (NGS) of selected
                      candidate genes in a subgroup of the cohort. Genomic DNA was
                      genotyped using Illumina's HumanOmniExpress Bead Array.
                      After quality control and filtering, 25 deletions and 16
                      duplications encompassing 73 genes were identified in 28
                      patients. No recurrent CNV was detected, and none of the
                      CNVs affected the regulatory regions of MSH2. A total of 49
                      candidate genes from genomic regions implicated by the
                      present CNV analysis and 30 known or assumed risk genes for
                      colorectal cancer (CRC) were then sequenced in a subset of
                      38 patients using a customized NGS gene panel and Sanger
                      sequencing. Single nucleotide variants were identified in 14
                      candidate genes from the CNV analysis. The most promising of
                      these candidate genes were: (i) PRKCA, PRKDC, and MCM4, as a
                      functional relation to MSH2 is predicted by network
                      analysis, and (ii) CSMD1, as this is commonly mutated in
                      CRC. Furthermore, six patients harbored POLE variants
                      outside the exonuclease domain, suggesting that these might
                      be implicated in hereditary CRC. Analyses in larger cohorts
                      of suspected LS patients recruited via international
                      collaborations are warranted to verify the present
                      findings.},
      cin          = {G105},
      ddc          = {610},
      cid          = {I:(DE-He78)G105-20160331},
      pnm          = {317 - Translational cancer research (POF3-317)},
      pid          = {G:(DE-HGF)POF3-317},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:29987844},
      doi          = {10.1002/ijc.31725},
      url          = {https://inrepo02.dkfz.de/record/141874},
}