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@ARTICLE{Kratz:181263,
      author       = {C. P. Kratz and D. Smirnov and R. Autry$^*$ and N.
                      Jäger$^*$ and S. M. Waszak and A. Großhennig and R.
                      Berutti and M. Wendorff and P. Hainaut and S. Pfister$^*$
                      and H. Prokisch and T. Ripperger and D. Malkin},
      title        = {{H}eterozygous {BRCA}1/2 and {M}ismatch {R}epair {G}ene
                      {P}athogenic {V}ariants in {C}hildren and {A}dolescents with
                      {C}ancer.},
      journal      = {Journal of the National Cancer Institute},
      volume       = {114},
      number       = {11},
      issn         = {0027-8874},
      address      = {Oxford},
      publisher    = {Oxford Univ. Press},
      reportid     = {DKFZ-2022-01906},
      pages        = {1523-1532},
      year         = {2022},
      note         = {2022 Nov 14;114(11):1523-1532},
      abstract     = {Genetic predisposition is a significant cause of cancer,
                      yet little is known about the role of 'adult cancer
                      predisposition syndromes' in childhood cancer. We examined
                      the extent to which heterozygous pathogenic germline
                      variants in BRCA1, BRCA2, PALB2, ATM, CHEK2, MSH2, MSH6,
                      MLH1, and PMS2 contribute to cancer risk in children and
                      adolescents.We conducted a meta-analysis of 11 studies that
                      incorporated comprehensive germline testing for children and
                      adolescents with cancer. ClinVar pathogenic/likely
                      pathogenic variants (PVs) in genes of interest were compared
                      to two control groups. Results were validated in a cohort of
                      mainly European cases and controls. We employed the Proxy
                      External Controls Association Test to account for different
                      pipelines.Among 3,975 children/adolescents with cancer,
                      significant associations with cancer risk were observed for
                      PVs in BRCA1/2 (26 PVs vs 63 PVs among 27,501 controls, OR
                      2.78, $95\%-CI$ 1.69-4.45, p<.001) and mismatch repair (MMR)
                      genes (19 PVs vs 14 PVs among 27,501 controls, OR 7.33,
                      $95\%-CI$ 3.64-14.82, p<.001). Associations were seen in
                      brain and other solid tumors, yet not in hematologic
                      neoplasms. We confirmed similar findings in 1,664 pediatric
                      cancer patients primarily of European descent.These data
                      suggest that heterozygous PVs in BRCA1/2 and MMR genes
                      contribute with reduced penetrance to cancer risk in
                      children/adolescents. No changes to predictive genetic
                      testing and surveillance recommendations are required.},
      cin          = {B062 / HD01},
      ddc          = {610},
      cid          = {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:35980168},
      doi          = {10.1093/jnci/djac151},
      url          = {https://inrepo02.dkfz.de/record/181263},
}