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@ARTICLE{Hemminki:274161,
      author       = {K. Hemminki$^*$ and X. Li and A. Försti$^*$ and C. Eng},
      title        = {{A}re population level familial risks and germline genetics
                      meeting each other?},
      journal      = {Hereditary cancer in clinical practice},
      volume       = {21},
      number       = {1},
      issn         = {1731-2302},
      address      = {Heidelberg},
      publisher    = {Springer},
      reportid     = {DKFZ-2023-00463},
      pages        = {3},
      year         = {2023},
      note         = {#EA:C020#},
      abstract     = {Large amounts of germline sequencing data have recently
                      become available and we sought to compare these results with
                      population-based family history data. Family studies are
                      able to describe aggregation of any defined cancers in
                      families. The Swedish Family-Cancer Database is the largest
                      of its kind in the world, covering the Swedish families
                      through nearly a century with all cancers in family members
                      since the start of national cancer registration in 1958. The
                      database allows estimation of familial risks, ages of cancer
                      onset and the proportion of familial cancer in different
                      family constellations. Here, we review the proportion of
                      familial cancer for all common cancers and specify them
                      based on the number of affected individuals. With the
                      exception of a few cancers, age of onset of familial cancer
                      is not different from all cancers combined. The highest
                      proportions of familial cancer were found for prostate
                      $(26.4\%),$ breast $(17.5\%)$ and colorectal $(15.7\%)$
                      cancers, but the proportions of high-risk families with
                      multiple affected individuals were only $2.8\%,$ $1\%$ and
                      $0.9\%,$ respectively. A large sequencing study on female
                      breast cancer found that BRCA1 and BRCA2 mutations could
                      account for $2\%$ of the cases (subtracting the proportions
                      in healthy individuals) and that all germline mutations
                      accounted for $5.6\%$ of the cases. Early age of onset was a
                      distinct feature of only BRCA mutations. In heritable
                      colorectal cancer, Lynch syndrome genes dominate. Large
                      studies on penetrance in Lynch syndrome have shown an
                      approximately linear increase in risk from 40-50 years up to
                      age 80 years. Interesting novel data revealed a strong
                      modification of familial risk by unknown factors. High-risk
                      germline genetics of prostate cancer is characterized by
                      BRCA and other DNA repair genes. HOXB13 encodes a
                      transcription factor which contributes to germline risk of
                      prostate cancer. A strong interaction was shown with a
                      polymorphism in the CIP2A gene. The emerging germline
                      landscape of common cancers can be reasonably accommodated
                      by family data on these cancers as to high-risk proportions
                      and age of onset.},
      subtyp        = {Review Article},
      keywords     = {Familial proportion (Other) / Familial risk (Other) /
                      Family-Cancer Database (Other) / High-risk families (Other)
                      / Nation-wide study (Other)},
      cin          = {C020 / B062 / HD01},
      ddc          = {610},
      cid          = {I:(DE-He78)C020-20160331 / I:(DE-He78)B062-20160331 /
                      I:(DE-He78)HD01-20160331},
      pnm          = {313 - Krebsrisikofaktoren und Prävention (POF4-313)},
      pid          = {G:(DE-HGF)POF4-313},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:36882784},
      doi          = {10.1186/s13053-023-00247-3},
      url          = {https://inrepo02.dkfz.de/record/274161},
}