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@ARTICLE{Pardini:144081,
      author       = {B. Pardini and A. Corrado and E. Paolicchi and G. Cugliari
                      and S. I. Berndt and S. Bezieau and S. A. Bien and H.
                      Brenner$^*$ and B. J. Caan and P. T. Campbell and G. Casey
                      and A. T. Chan and J. Chang-Claude$^*$ and M. Cotterchio and
                      M. Gala and S. J. Gallinger and R. W. Haile and T. A.
                      Harrison and R. B. Hayes and M. Hoffmeister$^*$ and J. L.
                      Hopper and L. Hsu and J. Huyghe and M. A. Jenkins and L. Le
                      Marchand and Y. Lin and N. M. Lindor and H. Nan and P. A.
                      Newcomb and S. Ogino and J. D. Potter and R. E. Schoen and
                      M. L. Slattery and E. White and L. Vodickova and V.
                      Vymetalkova and P. Vodicka and F. Gemignani and U. Peters
                      and A. Naccarati and S. Landi},
      title        = {{DNA} repair and cancer in colon and rectum: novel players
                      in genetic susceptibility.},
      journal      = {International journal of cancer},
      volume       = {146},
      number       = {2},
      issn         = {0020-7136},
      address      = {Bognor Regis},
      publisher    = {Wiley-Liss},
      reportid     = {DKFZ-2019-01631},
      pages        = {363-372},
      year         = {2020},
      note         = {146(2):363-372},
      abstract     = {Inter-individual differences in DNA repair systems may play
                      a role in modulating the individual risk of developing
                      colorectal cancer. To better ascertain the role of DNA
                      repair gene polymorphisms on colon and rectal cancer risk
                      individually, we evaluated 15,419 single nucleotide
                      polymorphisms (SNPs) within 185 DNA repair genes using GWAS
                      data from the Colon Cancer Family Registry (CCFR) and the
                      Genetics and Epidemiology of Colorectal Cancer Consortium
                      (GECCO), which included 8,178 colon cancer, 2,936 rectum
                      cancer cases and 14,659 controls. Rs1800734 (in MLH1 gene)
                      was associated with colon cancer risk (p-value=3.5x10-6 )
                      and rs2189517 (in RAD51B) with rectal cancer risk
                      (p-value=5.7x10-6 ). The results had statistical
                      significance close to the Bonferroni corrected p-value of
                      5.8x10-6 . Ninety-four SNPs were significantly associated
                      with colorectal cancer risk after Binomial Sequential
                      Goodness of Fit (BSGoF) procedure and confirmed the
                      relevance of DNA mismatch repair (MMR) and homologous
                      recombination pathways for colon and rectum cancer,
                      respectively. Defects in MMR genes are known to be crucial
                      for familial form of colorectal cancer but our findings
                      suggest that specific genetic variations in MLH1 are
                      important also in the individual predisposition to sporadic
                      colon cancer. Other SNPs associated with the risk of colon
                      cancer (e.g. rs16906252 in MGMT) were found to affect mRNA
                      expression levels in colon transverse and therefore working
                      as possible cis-eQTL suggesting possible mechanisms of
                      carcinogenesis. This article is protected by copyright. All
                      rights reserved.},
      cin          = {C070 / C120 / HD01 / C020},
      ddc          = {610},
      cid          = {I:(DE-He78)C070-20160331 / I:(DE-He78)C120-20160331 /
                      I:(DE-He78)HD01-20160331 / I:(DE-He78)C020-20160331},
      pnm          = {313 - Cancer risk factors and prevention (POF3-313)},
      pid          = {G:(DE-HGF)POF3-313},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:31209889},
      doi          = {10.1002/ijc.32516},
      url          = {https://inrepo02.dkfz.de/record/144081},
}