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@ARTICLE{Lei:182812,
      author       = {H. Lei and M. Zhang and L. Zhang and K. Hemminki$^*$ and
                      X.-J. Wang and T. Chen},
      title        = {{O}verview on population screening for carriers with
                      germline {BRCA} mutation in {C}hina.},
      journal      = {Frontiers in oncology},
      volume       = {12},
      issn         = {2234-943X},
      address      = {Lausanne},
      publisher    = {Frontiers Media},
      reportid     = {DKFZ-2022-02944},
      pages        = {1002360},
      year         = {2022},
      abstract     = {Carriers with BRCA1/2 germline pathogenic variants are
                      associated with a high risk of breast and ovarian cancers
                      (also pancreatic and prostate cancers). While the spectrum
                      on germline BRCA mutations among the Chinese population
                      shows ethnic specificity, the identification of carriers
                      with germline BRCA mutation before cancer onset is the most
                      effective approach to protect them. This review focused on
                      the current status of BRCA1/2 screening, the surveillance
                      and prevention measures, and discussed the issues and
                      potential impact of BRCA1/2 population screening in China.
                      We conducted literature research on databases PubMed and
                      Google Scholar, as well as Chinese databases CNKI and
                      Wangfang Med Online database (up to 31 March 2022). Latest
                      publications on germline BRCA1/2 prevalence, spectrum,
                      genetic screening as well as carrier counseling,
                      surveillance and prevention were captured where available.
                      While overall 15,256 records were retrieved, 72 publications
                      using germline BRCA1/2 testing were finally retained for
                      further analyses. Germline BRCA1/2 mutations are common in
                      Chinese patients with hereditary breast, ovarian, prostate
                      and pancreatic cancers. Within previous studies, a unique
                      BRCA mutation spectrum in China was revealed.
                      Next-generation sequencing panel was considered as the most
                      common method for BRCA1/2 screening. Regular surveillance
                      and preventive surgeries were tailored to carriers with
                      mutated-BRCA1/2. We recommend that all Chinese diagnosed
                      with breast, ovarian, pancreatic or prostate cancers and
                      also healthy family members, shall undergo BRCA1/2 gene test
                      to provide risk assessment. Subsequently, timely preventive
                      measures for mutation carriers are recommended after
                      authentic genetic counseling.},
      subtyp        = {Review Article},
      keywords     = {BRCA (Other) / China (Other) / familial risk (Other) /
                      germline mutation (Other) / population screening (Other)},
      cin          = {C020},
      ddc          = {610},
      cid          = {I:(DE-He78)C020-20160331},
      pnm          = {313 - Krebsrisikofaktoren und Prävention (POF4-313)},
      pid          = {G:(DE-HGF)POF4-313},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:36439508},
      pmc          = {pmc:PMC9682265},
      doi          = {10.3389/fonc.2022.1002360},
      url          = {https://inrepo02.dkfz.de/record/182812},
}