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@ARTICLE{Srivastava:156940,
      author       = {A. Srivastava$^*$ and B. Miao$^*$ and D. Skopelitou$^*$ and
                      V. Kumar and A. Kumar$^*$ and N. Paramasivam and E. Bonora
                      and K. Hemminki$^*$ and A. Försti$^*$ and O. R.
                      Bandapalli$^*$},
      title        = {{A} {G}ermline {M}utation in the {POT}1 {G}ene {I}s a
                      {C}andidate for {F}amilial {N}on-{M}edullary {T}hyroid
                      {C}ancer.},
      journal      = {Cancers},
      volume       = {12},
      number       = {6},
      issn         = {2072-6694},
      address      = {Basel},
      publisher    = {MDPI},
      reportid     = {DKFZ-2020-01245},
      pages        = {1441},
      year         = {2020},
      note         = {#EA:B062#EA:C050#LA:B062#LA:C050#},
      abstract     = {Non-medullary thyroid cancer (NMTC) is a common endocrine
                      malignancy with a genetic basis that has yet to be
                      unequivocally established. In a recent whole-genome
                      sequencing study of five families with occurrence of NMTCs,
                      we shortlisted promising variants with the help of
                      bioinformatics tools. Here, we report in silico analyses and
                      in vitro experiments on a novel germline variant (p.V29L) in
                      the highly conserved oligonucleotide/oligosaccharide binding
                      domain of the Protection of Telomeres 1 (POT1) gene in one
                      of the families. The results showed a reduction in
                      telomere-bound POT1 levels in the mutant protein as compared
                      to its wild-type counterpart. HEK293T cells carrying POT1
                      p.V29L showed increased telomere length in comparison to
                      wild-type cells, suggesting that the mutation causes
                      telomere dysfunction and may play a role in predisposition
                      to NMTC in this family. While one germline mutation in POT1
                      has already been reported in a melanoma-prone family with
                      prevalence of thyroid cancers, we report the first of such
                      mutations in a family affected solely by NMTCs, thus
                      expanding current knowledge on shelterin complex-associated
                      cancers.},
      cin          = {B062 / C050 / HD01 / C020},
      ddc          = {610},
      cid          = {I:(DE-He78)B062-20160331 / I:(DE-He78)C050-20160331 /
                      I:(DE-He78)HD01-20160331 / I:(DE-He78)C020-20160331},
      pnm          = {312 - Functional and structural genomics (POF3-312)},
      pid          = {G:(DE-HGF)POF3-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:32492864},
      doi          = {10.3390/cancers12061441},
      url          = {https://inrepo02.dkfz.de/record/156940},
}