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@ARTICLE{Skopelitou:180055,
      author       = {D. Skopelitou$^*$ and A. Srivastava$^*$ and B. Miao$^*$ and
                      A. Kumar$^*$ and D. Dymerska and N. Paramasivam and M.
                      Schlesner$^*$ and J. Lubinski and K. Hemminki$^*$ and A.
                      Försti$^*$ and O. Reddy Bandapalli$^*$},
      title        = {{W}hole exome sequencing identifies novel germline variants
                      of {SLC}15{A}4 gene as potentially cancer predisposing in
                      familial colorectal cancer.},
      journal      = {Molecular genetics and genomics},
      volume       = {297},
      number       = {4},
      issn         = {0026-8925},
      address      = {New York, NY},
      publisher    = {Springer},
      reportid     = {DKFZ-2022-01054},
      pages        = {965-979},
      year         = {2022},
      note         = {#EA:C050#LA:C050# / 2022 Jul;297(4):965-979},
      abstract     = {About $15\%$ of colorectal cancer (CRC) patients have
                      first-degree relatives affected by the same malignancy.
                      However, for most families the cause of familial aggregation
                      of CRC is unknown. To identify novel
                      high-to-moderate-penetrance germline variants underlying CRC
                      susceptibility, we performed whole exome sequencing (WES) on
                      four CRC cases and two unaffected members of a Polish family
                      without any mutation in known CRC predisposition genes.
                      After WES, we used our in-house developed Familial Cancer
                      Variant Prioritization Pipeline and identified two novel
                      variants in the solute carrier family 15 member 4 (SLC15A4)
                      gene. The heterozygous missense variant, p. Y444C, was
                      predicted to affect the phylogenetically conserved PTR2/POT
                      domain and to have a deleterious effect on the function of
                      the encoded peptide/histidine transporter. The other variant
                      was located in the upstream region of the same gene
                      (GRCh37.p13, $12_129308531_C_T;$ 43 bp upstream of
                      transcription start site, ENST00000266771.5) and it was
                      annotated to affect the promoter region of SLC15A4 as well
                      as binding sites of 17 different transcription factors. Our
                      findings of two distinct variants in the same gene may
                      indicate a synergistic up-regulation of SLC15A4 as the
                      underlying genetic cause and implicate this gene for the
                      first time in genetic inheritance of familial CRC.},
      keywords     = {Familial colorectal cancer (Other) / Germline variant
                      (Other) / SLC15A4 (Other) / Whole exome sequencing (Other)},
      cin          = {B062 / W610 / C050},
      ddc          = {570},
      cid          = {I:(DE-He78)B062-20160331 / I:(DE-He78)W610-20160331 /
                      I:(DE-He78)C050-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:35562597},
      doi          = {10.1007/s00438-022-01896-0},
      url          = {https://inrepo02.dkfz.de/record/180055},
}