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@ARTICLE{Hemminki:299494,
      author       = {K. Hemminki$^*$ and O. Hemminki and A. Koskinen and A.
                      Hemminki and A. Försti$^*$},
      title        = {{H}igh familial risks in some rare cancers may pinpoint to
                      hidden germline genetics: focus on esophageal, stomach,
                      small intestinal, testis, thyroid and bone cancers.},
      journal      = {Hereditary cancer in clinical practice},
      volume       = {23},
      number       = {1},
      issn         = {1731-2302},
      address      = {Heidelberg},
      publisher    = {Springer},
      reportid     = {DKFZ-2025-00453},
      pages        = {9},
      year         = {2025},
      note         = {#EA:Z999#LA:B062#},
      abstract     = {Germline genetic susceptibilities of rare cancers of the
                      esophagus, stomach, small intestine, testis, (nonmedullary)
                      thyroid gland and bone with high familial risks are not well
                      known. Here, we use familial risk data from the Swedish
                      Family-Cancer Database which contains records of cancers in
                      Swedish families obtained over a century. We compare
                      familial risks for offspring diagnosed with any of these
                      cancers when their parent had or had not that cancer. We
                      review the global literature of the reported constitutional
                      variants that may explain part of the familial risk.Familial
                      risks for esophageal and stomach cancers are about 2.0 and
                      apart from early-onset stomach cancer few high-risk variants
                      are known. Genetic studies may be hampered by dominant
                      environmental risk factors for these cancers. Small
                      intestinal carcinoids have a very high familial risk (28
                      between siblings) but no high-risk genes have been
                      identified to explain this. Low-risk polygenic variants have
                      been identified. Small intestinal adenocarcinoma is a
                      manifestation in Lynch syndrome. Testicular and thyroid
                      cancers are characterized by high familial risk (about 5)
                      which may be explained largely by a polygenic background,
                      although thyroid cancer is a component in a number of rare
                      cancer syndromes. Several predisposing genes have been
                      identified for bone cancer (familial risk 7).The discussed
                      cancers are rare and they present with a relatively high
                      familial risk, in spite of lacking identified high-penetrant
                      constitutional variants. It is possible that the polygenic
                      component, already recognized for testis cancer, is stronger
                      than previously expected. Thus polygenic models with rare
                      high/moderate- and low-risk variants could fit the familial
                      risk and shape the germline genetic landscape of these
                      cancers. Polygenic background may have clinical
                      implications.},
      subtyp        = {Review Article},
      keywords     = {Constitutional variants (Other) / Familial risk (Other) /
                      Germline genetics (Other) / Heredity (Other)},
      cin          = {Z999 / B062 / HD01},
      ddc          = {610},
      cid          = {I:(DE-He78)Z999-20160331 / I:(DE-He78)B062-20160331 /
                      I:(DE-He78)HD01-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40016794},
      doi          = {10.1186/s13053-024-00303-6},
      url          = {https://inrepo02.dkfz.de/record/299494},
}