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@ARTICLE{Frsti:294899,
      author       = {A. Försti$^*$ and F. Ambrozkiewicz and M. Marciniak and J.
                      Lubinski and K. Hemminki$^*$},
      title        = {{S}earch for germline gene variants in colorectal cancer
                      families presenting with multiple primary colorectal
                      cancers.},
      journal      = {International journal of cancer},
      volume       = {156},
      number       = {7},
      issn         = {0020-7136},
      address      = {Bognor Regis},
      publisher    = {Wiley-Liss},
      reportid     = {DKFZ-2024-02609},
      pages        = {1393-1403},
      year         = {2025},
      note         = {#EA:B062# / 2025 Apr 1;156(7):1393-1403},
      abstract     = {A double primary colorectal cancer (CRC) in a familial
                      setting signals a high risk of CRC. In order to identify
                      novel CRC susceptibility genes, we whole-exome sequenced
                      germline DNA from nine persons with a double primary CRC and
                      a family history of CRC. The detected variants were
                      processed by bioinformatics filtering and prioritization,
                      including STRING protein-protein interaction and pathway
                      analysis. A total of 150 missense, 19 stop-gain, 22
                      frameshift and 13 canonical splice site variants fulfilled
                      our filtering criteria. The STRING analysis identified 20
                      DNA repair/cell cycle proteins as the main cluster, related
                      to genes CHEK2, EXO1, FAAP24, FANCI, MCPH1, POLL, PRC1,
                      RECQL, RECQL5, RRM2, SHCBP1, SMC2, XRCC1, in addition to
                      CDK18, ENDOV, ZW10 and the known mismatch repair genes.
                      Another STRING network included extracellular matrix genes
                      and TGFβ signaling genes. In the nine whole-exome sequenced
                      patients, eight harbored at least two candidate DNA
                      repair/cell cycle/TGFβ signaling gene variants. The number
                      of families is too small to provide evidence for individual
                      variants but, considering the known role of DNA repair/cell
                      cycle genes in CRC, the clustering of multiple deleterious
                      variants in the present families suggests that these,
                      perhaps jointly, contributed to CRC development in these
                      families.},
      keywords     = {familial colorectal cancer (Other) / germline variant
                      (Other) / multiple primaries (Other) / whole‐exome
                      sequencing (Other)},
      cin          = {B062 / HD01 / Z999},
      ddc          = {610},
      cid          = {I:(DE-He78)B062-20160331 / I:(DE-He78)HD01-20160331 /
                      I:(DE-He78)Z999-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:39654522},
      doi          = {doi:10.1002/ijc.35283},
      url          = {https://inrepo02.dkfz.de/record/294899},
}