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@ARTICLE{Srivastava:147346,
      author       = {A. Srivastava$^*$ and A. Kumar$^*$ and S. Giangiobbe$^*$
                      and E. Bonora and K. Hemminki$^*$ and A. Försti$^*$ and O.
                      R. Bandapalli$^*$},
      title        = {{W}hole {G}enome {S}equencing of {F}amilial
                      {N}on-{M}edullary {T}hyroid {C}ancer {I}dentifies {G}ermline
                      {A}lterations in {MAPK}/{ERK} and {PI}3{K}/{AKT} {S}ignaling
                      {P}athways.},
      journal      = {Biomolecules},
      volume       = {9},
      number       = {10},
      issn         = {2218-273X},
      address      = {Basel},
      publisher    = {MDPI},
      reportid     = {DKFZ-2019-02467},
      pages        = {605},
      year         = {2019},
      note         = {2019, 9(10), 605},
      abstract     = {Evidence of familial inheritance in non-medullary thyroid
                      cancer (NMTC) has accumulated over the last few decades.
                      However, known variants account for a very small percentage
                      of the genetic burden. Here, we focused on the
                      identification of common pathways and networks enriched in
                      NMTC families to better understand its pathogenesis with the
                      final aim of identifying one novel high/moderate-penetrance
                      germline predisposition variant segregating with the disease
                      in each studied family. We performed whole genome sequencing
                      on 23 affected and 3 unaffected family members from five
                      NMTC-prone families and prioritized the identified variants
                      using our Familial Cancer Variant Prioritization Pipeline
                      (FCVPPv2). In total, 31 coding variants and 39 variants
                      located in upstream, downstream, 5' or 3' untranslated
                      regions passed FCVPPv2 filtering. Altogether, 210 genes
                      affected by variants that passed the first three steps of
                      the FCVPPv2 were analyzed using Ingenuity Pathway Analysis
                      software. These genes were enriched in tumorigenic signaling
                      pathways mediated by receptor tyrosine kinases and G-protein
                      coupled receptors, implicating a central role of PI3K/AKT
                      and MAPK/ERK signaling in familial NMTC. Our approach can
                      facilitate the identification and functional validation of
                      causal variants in each family as well as the screening and
                      genetic counseling of other individuals at risk of
                      developing NMTC.},
      cin          = {C050 / B062 / L101},
      ddc          = {570},
      cid          = {I:(DE-He78)C050-20160331 / I:(DE-He78)B062-20160331 /
                      I:(DE-He78)L101-20160331},
      pnm          = {313 - Cancer risk factors and prevention (POF3-313)},
      pid          = {G:(DE-HGF)POF3-313},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:31614935},
      doi          = {10.3390/biom9100605},
      url          = {https://inrepo02.dkfz.de/record/147346},
}