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@ARTICLE{Niazi:186688,
      author       = {Y. Niazi$^*$ and N. Paramasivam and J. Blocka and A. Kumar
                      and S. Huhn and M. Schlesner$^*$ and N. Weinhold and R.
                      Sijmons and M. De Jong and B. Durie and H. Goldschmidt and
                      K. Hemminki$^*$ and A. Försti$^*$},
      title        = {{I}nvestigation of {R}are {N}on-{C}oding {V}ariants in
                      {F}amilial {M}ultiple {M}yeloma.},
      journal      = {Cells},
      volume       = {12},
      number       = {1},
      issn         = {2073-4409},
      address      = {Basel},
      publisher    = {MDPI},
      reportid     = {DKFZ-2023-00057},
      pages        = {96},
      year         = {2023},
      note         = {#EA:B062#LA:B062#},
      abstract     = {Multiple myeloma (MM) is a plasma cell malignancy whereby a
                      single clone of plasma cells over-propagates in the bone
                      marrow, resulting in the increased production of monoclonal
                      immunoglobulin. While the complex genetic architecture of MM
                      is well characterized, much less is known about germline
                      variants predisposing to MM. Genome-wide sequencing
                      approaches in MM families have started to identify rare
                      high-penetrance coding risk alleles. In addition,
                      genome-wide association studies have discovered several
                      common low-penetrance risk alleles, which are mainly located
                      in the non-coding genome. Here, we further explored the
                      genetic basis in familial MM within the non-coding genome in
                      whole-genome sequencing data. We prioritized and
                      characterized 150 upstream, 5' untranslated region (UTR) and
                      3' UTR variants from 14 MM families, including 20
                      top-scoring variants. These variants confirmed previously
                      implicated biological pathways in MM development. Most
                      importantly, protein network and pathway enrichment analyses
                      also identified 10 genes involved in mitogen-activated
                      protein kinase (MAPK) signaling pathways, which have
                      previously been established as important MM pathways.},
      keywords     = {MAPK pathway (Other) / familial multiple myeloma (Other) /
                      non-coding genome (Other) / whole-genome sequencing (Other)},
      cin          = {B062 / HD01 / W610 / C020},
      ddc          = {570},
      cid          = {I:(DE-He78)B062-20160331 / I:(DE-He78)HD01-20160331 /
                      I:(DE-He78)W610-20160331 / I:(DE-He78)C020-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:36611892},
      doi          = {10.3390/cells12010096},
      url          = {https://inrepo02.dkfz.de/record/186688},
}