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@ARTICLE{Miao:179064,
      author       = {B. Miao$^*$ and D. Skopelitou$^*$ and A. Srivastava$^*$ and
                      S. Giangiobbe$^*$ and D. Dymerska and N. Paramasivam and A.
                      Kumar$^*$ and M. Kuświk and W. Kluźniak and K.
                      Paszkowska-Szczur and M. Schlesner$^*$ and J. Lubinski and
                      K. Hemminki$^*$ and A. Försti$^*$ and O. R. Bandapalli$^*$},
      title        = {{W}hole-{E}xome {S}equencing {I}dentifies a {N}ovel
                      {G}ermline {V}ariant in {PTK}7 {G}ene in {F}amilial
                      {C}olorectal {C}ancer.},
      journal      = {International journal of molecular sciences},
      volume       = {23},
      number       = {3},
      issn         = {1422-0067},
      address      = {Basel},
      publisher    = {Molecular Diversity Preservation International},
      reportid     = {DKFZ-2022-00442},
      pages        = {1295},
      year         = {2022},
      note         = {#EA:B062#LA:B062#},
      abstract     = {Colorectal cancer (CRC) is the third most frequently
                      diagnosed malignancy worldwide. Only $5\%$ of all CRC cases
                      are due to germline mutations in known predisposition genes,
                      and the remaining genetic burden still has to be discovered.
                      In this study, we performed whole-exome sequencing on six
                      members of a Polish family diagnosed with CRC and identified
                      a novel germline variant in the protein tyrosine kinase 7
                      (inactive) gene (PTK7, ENST00000230419, V354M). Targeted
                      screening of the variant in 1705 familial CRC cases and 1674
                      healthy elderly individuals identified the variant in an
                      additional familial CRC case. Introduction of this variant
                      in HT-29 cells resulted in increased cell proliferation,
                      migration, and invasion; it also caused down-regulation of
                      CREB, p21 and p53 mRNA and protein levels, and increased AKT
                      phosphorylation. These changes indicated inhibition of
                      apoptosis pathways and activation of AKT signaling. Our
                      study confirmed the oncogenic function of PTK7 and supported
                      its role in genetic predisposition of familial CRC.},
      keywords     = {Aged / Cell Adhesion Molecules: genetics / Cell Adhesion
                      Molecules: metabolism / Cell Movement: genetics / Cell
                      Proliferation: genetics / Colorectal Neoplasms: genetics /
                      Colorectal Neoplasms: pathology / Cyclic AMP Response
                      Element-Binding Protein: genetics / Cyclin-Dependent Kinase
                      Inhibitor p21: genetics / Family / Female / Genetic
                      Predisposition to Disease / Germ-Line Mutation: genetics /
                      Humans / Male / Middle Aged / Neoplasm Invasiveness:
                      genetics / Oncogenes / Pedigree / Proto-Oncogene Proteins
                      c-akt: genetics / Receptor Protein-Tyrosine Kinases:
                      genetics / Receptor Protein-Tyrosine Kinases: metabolism /
                      Tumor Suppressor Protein p53: genetics / Whole Exome
                      Sequencing: methods / AKT signaling pathway (Other) / PTK7
                      (Other) / colorectal cancer (Other) / familial cancer
                      variant prioritization pipeline (Other) / familial cancers
                      (Other) / germline variant (Other) / CDKN1A protein, human
                      (NLM Chemicals) / CREB1 protein, human (NLM Chemicals) /
                      Cell Adhesion Molecules (NLM Chemicals) / Cyclic AMP
                      Response Element-Binding Protein (NLM Chemicals) /
                      Cyclin-Dependent Kinase Inhibitor p21 (NLM Chemicals) /
                      Tumor Suppressor Protein p53 (NLM Chemicals) / PTK7 protein,
                      human (NLM Chemicals) / Receptor Protein-Tyrosine Kinases
                      (NLM Chemicals) / Proto-Oncogene Proteins c-akt (NLM
                      Chemicals)},
      cin          = {B062 / HD01 / C050 / W610},
      ddc          = {540},
      cid          = {I:(DE-He78)B062-20160331 / I:(DE-He78)HD01-20160331 /
                      I:(DE-He78)C050-20160331 / I:(DE-He78)W610-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:35163215},
      pmc          = {pmc:PMC8836109},
      doi          = {10.3390/ijms23031295},
      url          = {https://inrepo02.dkfz.de/record/179064},
}