% 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:177743,
      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 K. Hemminki$^*$ and A.
                      Försti$^*$},
      title        = {{DNA} {R}epair {G}ene {P}olymorphisms and {C}hromosomal
                      {A}berrations in {E}xposed {P}opulations.},
      journal      = {Frontiers in genetics},
      volume       = {12},
      issn         = {1664-8021},
      address      = {Lausanne},
      publisher    = {Frontiers Media},
      reportid     = {DKFZ-2021-02784},
      pages        = {691947},
      year         = {2021},
      note         = {#EA:B062#LA:B062#},
      abstract     = {DNA damage and unrepaired or insufficiently repaired DNA
                      double-strand breaks as well as telomere shortening
                      contribute to the formation of structural chromosomal
                      aberrations (CAs). Non-specific CAs have been used in the
                      monitoring of individuals exposed to potential carcinogenic
                      chemicals and radiation. The frequency of CAs in peripheral
                      blood lymphocytes (PBLs) has been associated with cancer
                      risk and the association has also been found in incident
                      cancer patients. CAs include chromosome-type aberrations
                      (CSAs) and chromatid-type aberrations (CTAs) and their sum
                      CAtot. In the present study, we used data from our published
                      genome-wide association studies (GWASs) and extracted the
                      results for 153 DNA repair genes for 607 persons who had
                      occupational exposure to diverse harmful
                      substances/radiation and/or personal exposure to tobacco
                      smoking. The analyses were conducted using linear and
                      logistic regression models to study the association of DNA
                      repair gene polymorphisms with CAs. Considering an arbitrary
                      cutoff level of 5 × 10-3, 14 loci passed the threshold, and
                      included 7 repair pathways for CTA, 4 for CSA, and 3 for
                      CAtot; 10 SNPs were eQTLs influencing the expression of the
                      target repair gene. For the base excision repair pathway,
                      the implicated genes PARP1 and PARP2 encode
                      poly(ADP-ribosyl) transferases with multiple regulatory
                      functions. PARP1 and PARP2 have an important role in
                      maintaining genome stability through diverse mechanisms.
                      Other candidate genes with known roles for CSAs included
                      GTF2H (general transcription factor IIH subunits 4 and 5),
                      Fanconi anemia pathway genes, and PMS2, a mismatch repair
                      gene. The present results suggest pathways with mechanistic
                      rationale for the formation of CAs and emphasize the need to
                      further develop techniques for measuring individual
                      sensitivity to genotoxic exposure.},
      keywords     = {DNA repair (Other) / association study (Other) /
                      chromosomal aberrations (Other) / exposure (Other) /
                      polymorphism (Other)},
      cin          = {B062 / HD01},
      ddc          = {570},
      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:34220964},
      pmc          = {pmc:PMC8242355},
      doi          = {10.3389/fgene.2021.691947},
      url          = {https://inrepo02.dkfz.de/record/177743},
}