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Performance of individual and joint risk stratification by an environmental risk score and a genetic risk score in a colorectal cancer screening setting

Balavarca, Yesilda ; Weigl, Korbinian ; Thomsen, Hauke LU and Brenner, Hermann (2019) In International Journal of Cancer
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... (More)

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.

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author
publishing date
type
Contribution to journal
publication status
epub
subject
keywords
colorectal neoplasm, genetic loci, risk allele, risk score, screening
in
International Journal of Cancer
publisher
John Wiley & Sons
external identifiers
  • pmid:30868574
  • pmid:30868574
  • scopus:85063659437
ISSN
0020-7136
DOI
10.1002/ijc.32272https://doi.org/10.1002/ijc.32272
language
English
LU publication?
no
additional info
© 2019 UICC.
id
b9fd9021-49d3-4af6-ab3a-9c40223958f0
date added to LUP
2019-03-18 08:29:45
date last changed
2020-02-19 05:22:59
@article{b9fd9021-49d3-4af6-ab3a-9c40223958f0,
  abstract     = {<p>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.</p>},
  author       = {Balavarca, Yesilda and Weigl, Korbinian and Thomsen, Hauke and Brenner, Hermann},
  issn         = {0020-7136},
  language     = {eng},
  month        = {03},
  publisher    = {John Wiley & Sons},
  series       = {International Journal of Cancer},
  title        = {Performance of individual and joint risk stratification by an environmental risk score and a genetic risk score in a colorectal cancer screening setting},
  url          = {http://dx.doi.org/10.1002/ijc.32272https://doi.org/10.1002/ijc.32272},
  doi          = {10.1002/ijc.32272https://doi.org/10.1002/ijc.32272},
  year         = {2019},
}