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@ARTICLE{Hemminki:288780,
      author       = {K. Hemminki$^*$ and Y. Niazi$^*$ and L. Vodickova and P.
                      Vodicka and A. Försti$^*$},
      title        = {{G}enetic {A}nd {E}nvironmental {A}ssociations {O}f
                      {N}onspecific {C}hromosomal {A}berrations.},
      journal      = {Mutagenesis},
      volume       = {40},
      number       = {1},
      issn         = {0267-8357},
      address      = {Oxford},
      publisher    = {Oxford Univ. Press},
      reportid     = {DKFZ-2024-00463},
      pages        = {30-38},
      year         = {2025},
      note         = {#EA:Z999#LA:B062# / 2025 Mar 15;40(1):30-38},
      abstract     = {Nonspecific structural chromosomal aberrations (CAs) are
                      found in around $1\%$ of circulating lymphocytes from
                      healthy individuals but the frequency may be higher after
                      exposure to carcinogenic chemicals or radiation. CAs have
                      been used in the monitoring of persons exposed to genotoxic
                      agents and radiation. Previous studies on occupationally
                      exposed individuals have shown associations between the
                      frequency of CAs in peripheral blood lymphocytes and
                      subsequent cancer risk. The cause for CA formation are
                      believed to be unrepaired or insufficiently repaired DNA
                      double-strand breaks or other DNA damage, and additionally
                      telomere shortening. CAs include chromosome (CSAs) and
                      chromatid type aberrations (CTAs). In the present review, we
                      first describe the types of CAs, the conventional techniques
                      used for their detection and some aspects of interpreting
                      the results. We then focus on germline genetic variation in
                      the frequency and type of CAs measured in a genome-wide
                      association study (GWAS) in healthy individuals in relation
                      to occupational and smoking-related exposure compared to
                      non-exposed referents. The associations (at p<10-5) on 1473
                      healthy individuals were broadly classified in candidate
                      genes from functional pathways related to DNA damage
                      response/repair, including PSMA1, UBR5, RRM2B, PMS2P4,
                      STAG3L4, BOD1, COPRS and FTO; another group included genes
                      related to apoptosis, cell proliferation, angiogenesis and
                      tumorigenesis, COPB1, NR2C1, COPRS, RHOT1, ITGB3, SYK, and
                      SEMA6A; a third small group mapped to genes KLF7, SEMA5A and
                      ITGB3 which were related to autistic traits, known to
                      manifest frequent CAs. Dedicated studies on 153 DNA repair
                      genes showed associations for some 30 genes, expression of
                      which could be modified by the implicated variants. We
                      finally point out that monitoring of CAs is so far the only
                      method of assessing cancer risk in healthy human
                      populations, and the use of the technology should be made
                      more attractive by developing automated performance steps
                      and incorporating artificial intelligence methods into the
                      scoring.},
      subtyp        = {Review Article},
      keywords     = {Chromosomal damage (Other) / DNA repair (Other) / cancer
                      (Other) / double-strand break (Other) / genetics (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:38422374},
      doi          = {10.1093/mutage/geae006},
      url          = {https://inrepo02.dkfz.de/record/288780},
}