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@ARTICLE{Hemminki:157416,
      author       = {K. Hemminki$^*$ and A. Srivastava$^*$ and S. Rachakonda$^*$
                      and O. Bandapalli$^*$ and E. Nagore and A. Hemminki and R.
                      Kumar$^*$},
      title        = {{I}nforming patients about their mutation tests: {CDKN}2{A}
                      $c.256{G}\>{A}$ in melanoma as an example.},
      journal      = {Hereditary cancer in clinical practice},
      volume       = {18},
      number       = {1},
      issn         = {1897-4287},
      address      = {Heidelberg},
      publisher    = {Springer},
      reportid     = {DKFZ-2020-01611},
      pages        = {15},
      year         = {2020},
      note         = {#EA:C050#EA:C020#LA:B070#LA:C050},
      abstract     = {When germline mutations are suspected as causal in cancer,
                      patient DNA may be sequenced to detect variants in relevant
                      genes. If a particular mutation has not been reported in
                      reliable family studies, genetic counselors are facing a
                      dilemma of appropriately informing patients. Many sequencing
                      facilities provide an interpretation of the findings based
                      on the available sequence databases or on prediction tools
                      that are curated from bioinformatics and mechanistic
                      datasets. The counseling dilemma is exacerbated if the
                      pedigree data are not informative but the in silico
                      predictions suggest pathogenicity.We present here a real
                      world example of the c.256G > A CDKN2A variant, which
                      was detected in one melanoma patient where two siblings were
                      diagnosed with melanoma in situ. We investigated a detailed
                      family history of the affected siblings in order to survey
                      probability of the cancer risks within the context to this
                      mutation.This c.256G > A CDKN2A variant was detected in
                      one of the brothers and in the melanoma-free mother while
                      the other brother in the family tested negative. The variant
                      had been previously described in one patient from a melanoma
                      family. In the family under investigation, the mother's 16
                      first-and second-degree relatives had survived past the
                      median onset age for melanoma and none presented melanoma.
                      We tested the variant using multiple bioinformatic tools
                      that all predicted deleteriousness of the variant. The
                      genetic counseling report to the melanoma patient stated
                      that the CDKN2A variant was 'likely pathogenic' and the
                      disease was defined as 'likely hereditary melanoma'.The
                      pedigree data showed at the most a low penetrance variant,
                      which, if taken into consideration, might have altered the
                      provided diagnosis. When dealing with 'practically' unknown
                      variants the counselors would be advised to incorporate a
                      detailed family history rather than basing predictions on
                      functionality provided by sequencing facilities.},
      cin          = {C050 / B062 / B070 / HD01},
      ddc          = {610},
      cid          = {I:(DE-He78)C050-20160331 / I:(DE-He78)B062-20160331 /
                      I:(DE-He78)B070-20160331 / I:(DE-He78)HD01-20160331},
      pnm          = {312 - Functional and structural genomics (POF3-312)},
      pid          = {G:(DE-HGF)POF3-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:32760473},
      pmc          = {pmc:PMC7393828},
      doi          = {10.1186/s13053-020-00146-x},
      url          = {https://inrepo02.dkfz.de/record/157416},
}