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@ARTICLE{Volckmar:119224,
      author       = {A.-L. Volckmar and J. Leichsenring and C. Flechtenmacher
                      and N. Pfarr and U. Siebolts and M. Kirchner and J. Budczies
                      and M. Bockmayr and K. Ridinger and K. Lorenz and E.
                      Herpel$^*$ and A. Noske and W. Weichert$^*$ and F. Klauschen
                      and P. Schirmacher$^*$ and R. Penzel and V. Endris and A.
                      Stenzinger$^*$},
      title        = {{T}ubular, lactating, and ductal adenomas are devoid of
                      {MED}12 {E}xon2 mutations, and ductal adenomas show
                      recurrent mutations in {GNAS} and the {PI}3{K}-{AKT}
                      pathway},
      journal      = {Genes, chromosomes $\&$ cancer},
      volume       = {56},
      number       = {1},
      issn         = {1045-2257},
      address      = {New York, NY},
      publisher    = {Wiley-Liss},
      reportid     = {DKFZ-2017-00014},
      pages        = {11 - 17},
      year         = {2017},
      abstract     = {Adenomas of the breast are rare benign tumors although
                      single cases with malignant behavior have been reported.
                      However, the genetic basis of these tumors is unknown.
                      Employing targeted next generation sequencing of 50
                      cancer-related genes as well as Sanger sequencing, we
                      profiled a cohort of 18 mammary adenomas comprising 9
                      ductal, 6 tubular, and 3 lactating adenoma. Missense
                      mutations were detected in 8 of the 18 cases $(44\%).$
                      Specifically, five $(56\%)$ ductal adenomas and three
                      $(50\%)$ tubular adenomas harbored mutated genes. No
                      mutations were detected in lactating adenomas. Three of the
                      nine ductal adenomas showed mutant AKT1 (p.E17K) with two of
                      them harboring an additional GNAS mutation (p.R201C). One
                      case had mutant PIK3CA (p.H1047R) and another case a
                      mutation in GNAS (p.R201C). The three cases of mutated
                      tubular adenomas showed mutations in either MET or FGFR3. Of
                      note, we did not detect copy number changes and none of the
                      cases including tubular adenomas had mutations in exon 2 of
                      MED12. Our results suggest that ductal adenomas are related
                      to papillomas of the breast and screening for mutations in
                      exon 2 of MED12 might help to facilitate differential
                      diagnosis between tubular adenoma and fibroadenoma in
                      difficult cases. Lastly, our data exemplarily demonstrate
                      that mutations in cancer-related genes per se do not
                      indicate malignancy but occur in benign tumors. © 2016
                      Wiley Periodicals, Inc.},
      cin          = {G010 / L101 / L701},
      ddc          = {570},
      cid          = {I:(DE-He78)G010-20160331 / I:(DE-He78)L101-20160331 /
                      I:(DE-He78)L701-20160331},
      pnm          = {317 - Translational cancer research (POF3-317)},
      pid          = {G:(DE-HGF)POF3-317},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:27438523},
      doi          = {10.1002/gcc.22396},
      url          = {https://inrepo02.dkfz.de/record/119224},
}