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@ARTICLE{BalavarcaVillanueva:143169,
      author       = {Y. Balavarca Villanueva$^*$ and K. Weigl$^*$ and H.
                      Thomsen$^*$ and H. Brenner$^*$},
      title        = {{P}erformance of individual and joint risk stratification
                      by an environmental risk score and a genetic risk score in a
                      colorectal cancer screening setting.},
      journal      = {International journal of cancer},
      volume       = {146},
      number       = {3},
      issn         = {1097-0215},
      address      = {Bognor Regis},
      publisher    = {Wiley-Liss},
      reportid     = {DKFZ-2019-00768},
      pages        = {627-634},
      year         = {2020},
      note         = {2020 Feb 1;146(3):627-634#EA:C120#LA:C120#},
      abstract     = {Early detection of colorectal neoplasms can reduce the
                      disease burden of colorectal cancer by timely intervention
                      of individuals at high risk. Our aim was to evaluate a joint
                      environmental-genetic risk score as a risk stratification
                      tool for early detection of advanced colorectal neoplasm
                      (ACRN). Known environmental risk factors and high-risk
                      genetic loci were summarized into risk scores for ACRN in
                      1014 eligible participants of a screening study. The
                      performances of single and joint environmental-genetic
                      scores were evaluated with estimates and $95\%$ confidence
                      intervals (CI) of the absolute risk, relative risk and
                      predictive ability using the area under the curve (AUC).
                      Individuals with higher environmental risk scores showed
                      increasing ACRN risk, with 3.1-fold for intermediate risk
                      and 4.8-fold for very high risk, compared to the very low
                      environmental risk group. Similarly, individuals with higher
                      genetic risk scores showed increasing ACRN risk, with
                      2.2-fold for intermediate risk and 3.5-fold for very high
                      risk, compared to the lowest genetic risk group. Moreover,
                      the joint environmental-genetic score improved the ACRN risk
                      stratification and showed higher predictive values (AUC =
                      0.64; $95\%CI =$ 0.60-0.67) with substantial difference (p
                      = 0.0002) compared to the single environmental score (0.58;
                      0.55-0.62). The integration of environmental and genetic
                      factors looks promising for improving targeting individuals
                      at high-risk of colorectal neoplasm. Applications in
                      practical screening programs require optimization with
                      additional genetic and other biomarkers involved in
                      colorectal carcinogenesis.},
      cin          = {C120 / C070 / HD01 / C050},
      ddc          = {610},
      cid          = {I:(DE-He78)C120-20160331 / I:(DE-He78)C070-20160331 /
                      I:(DE-He78)HD01-20160331 / I:(DE-He78)C050-20160331},
      pnm          = {313 - Cancer risk factors and prevention (POF3-313)},
      pid          = {G:(DE-HGF)POF3-313},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:30868574},
      doi          = {10.1002/ijc.32272},
      url          = {https://inrepo02.dkfz.de/record/143169},
}