% IMPORTANT: The following is UTF-8 encoded.  This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.

@ARTICLE{Niazi:167820,
      author       = {Y. Niazi$^*$ and H. Thomsen$^*$ and B. Smolkova and L.
                      Vodickova and S. Vodenkova and M. Kroupa and V. Vymetalkova
                      and A. Kazimirova and M. Barancokova and K. Volkovova and M.
                      Staruchova and P. Hoffmann and M. M. Nöthen and M. Dusinska
                      and L. Musak and P. Vodicka and A. Försti$^*$ and K.
                      Hemminki$^*$},
      title        = {{DNA} repair gene polymorphisms and chromosomal aberrations
                      in healthy, nonsmoking population.},
      journal      = {DNA repair},
      volume       = {101},
      issn         = {1568-7864},
      address      = {Amsterdam [u.a.]},
      publisher    = {Elsevier Science},
      reportid     = {DKFZ-2021-00564},
      pages        = {103079},
      year         = {2021},
      note         = {#EA:C050#LA:C020#},
      abstract     = {Nonspecific structural chromosomal aberrations (CAs) can be
                      found at around $1\%$ of circulating lymphocytes from
                      healthy individuals but the frequency may be higher after
                      exposure to carcinogenic chemicals or radiation. The
                      frequency of CAs has been measured in occupational
                      monitoring and an increased frequency of CAs has also been
                      associated with cancer risk. Alterations in DNA damage
                      repair and telomere maintenance are thought to contribute to
                      the formation of CAs, which include chromosome type of
                      aberrations and chromatid type of aberrations. In the
                      present study, we used the result of our published
                      genome-wide association studies to extract data on 153 DNA
                      repair genes from 866 nonsmoking persons who had no known
                      occupational exposure to genotoxic substances. Considering
                      an arbitrary cut-off level of P< 5 × 10-3, single
                      nucleotide polymorphisms (SNPs) tagging 22 DNA repair genes
                      were significantly associated with CAs and they remained
                      significant at P < 0.05 when adjustment for multiple
                      comparisons was done by the Binomial Sequential Goodness of
                      Fit test. Nucleotide excision repair pathway genes showed
                      most associations with 6 genes. Among the associated genes
                      were several in which mutations manifest CA phenotype,
                      including Fanconi anemia, WRN, BLM and genes that are
                      important in maintaining genome stability, as well as PARP2
                      and mismatch repair genes. RPA2 and RPA3 may participate in
                      telomere maintenance through the synthesis of the C strand
                      of telomeres. Errors in NHEJ1 function may lead to
                      translocations. The present results show associations with
                      some genes with known CA phenotype and suggest other
                      pathways with mechanistic rationale for the formation of CAs
                      in healthy nonsmoking population.},
      keywords     = {Association study (Other) / Chromosomal aberrations (Other)
                      / DNA repair (Other) / Double-strand breaks (Other)},
      cin          = {C050 / HD01 / B062 / C020},
      ddc          = {570},
      cid          = {I:(DE-He78)C050-20160331 / I:(DE-He78)HD01-20160331 /
                      I:(DE-He78)B062-20160331 / 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:33676360},
      doi          = {10.1016/j.dnarep.2021.103079},
      url          = {https://inrepo02.dkfz.de/record/167820},
}