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@ARTICLE{Frsti:307497,
      author       = {A. Försti$^*$ and B. Miao$^*$ and A. Kumar$^*$ and D.
                      Dymerska Zaremba and M. Marciniak and J. Lubinski and K.
                      Hemminki$^*$},
      title        = {{F}amilial colorectal cancer: search for novel
                      predisposition genes.},
      journal      = {Human genomics},
      volume       = {nn},
      issn         = {1473-9542},
      address      = {London [u.a.]},
      publisher    = {Henry Stewart Publ.},
      reportid     = {DKFZ-2026-00002},
      pages        = {nn},
      year         = {2025},
      note         = {#EA:B062#LA:C020#LA:Z999# / epub},
      abstract     = {Family history of colorectal cancer (CRC) and multiple
                      primary CRCs in a single person may indicate inherited CRC
                      predisposition.In the present study, we performed whole
                      exome/genome sequencing on germline DNA from at least two
                      CRC cases in 19 families and from family members with a
                      double primary CRC from seven additional families. We used a
                      set of in silico predictions in combination with a STRING
                      protein-protein interaction and pathway analysis to identify
                      the most likely variants predisposing to CRC.We identified
                      Cell cycle/DNA repair and TGFβ signaling/Focal
                      adhesion/Extracellular matrix organization pathways as
                      highly significant protein-protein interaction networks.
                      Variants in the APCDD1, CYBA, PTK7 and SRC genes were
                      identified in more than one family, and they were shown to
                      dysregulate basic cellular functions, potentially leading to
                      cancer development. Most variants were private to a family,
                      and each family had more than one candidate variant,
                      suggesting a synergistic or polygenic mode of inheritance.
                      This hypothesis, as well as validation of the identified
                      variants and pathways and their functional consequences,
                      need confirmation by other family-based studies.Different
                      types of family-based analyses together with in silico
                      predictions are helpful to identify candidate genes and
                      pathways for CRC predisposition.},
      keywords     = {Colorectal cancer (Other) / Familial cancer (Other) /
                      Genetic predisposition (Other) / Multiple primaries (Other)},
      cin          = {B062 / HD01 / D250 / A360 / C020 / Z999},
      ddc          = {570},
      cid          = {I:(DE-He78)B062-20160331 / I:(DE-He78)HD01-20160331 /
                      I:(DE-He78)D250-20160331 / I:(DE-He78)A360-20160331 /
                      I:(DE-He78)C020-20160331 / I:(DE-He78)Z999-20160331},
      pnm          = {313 - Krebsrisikofaktoren und Prävention (POF4-313)},
      pid          = {G:(DE-HGF)POF4-313},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:41469725},
      doi          = {10.1186/s40246-025-00901-y},
      url          = {https://inrepo02.dkfz.de/record/307497},
}