Determining Risk of Colorectal Cancer and Starting Age of Screening Based on Lifestyle, Environmental, and Genetic Factors

Jeon, Jihyoun; Du, Mengmeng; Schoen, Robert E.; Hoffmeister, Michael; Newcomb, Polly A.; Berndt, Sonja I.; Caan, Bette J.; Campbell, Peter T.; Chan, Andrew T.; Chang‐Claude, Jenny; Giles, Graham G.; Gong, Jian; Harrison, Tabitha A.; Huyghe, Jeroen R.; Jacobs, Eric J.; Li, Li; Lin, Yi; Marchand, Loı̈c Le; Potter, John D.; Qu, Conghui; Bien, Stephanie A.; Zubair, Niha; MacInnis, Robert J.; Buchanan, Daniel D.; Hopper, John L.; Cao, Yin; Nishihara, Reiko; Rennert, Gad; Slattery, Martha L.; Thomas, Duncan C.; Woods, Michael O.; Prentice, Ross L.; Gruber, Stephen B.; Zheng, Yingye; Brenner, Hermann; Hayes, Richard B.; White, Emily; Peters, Ulrike; Hsu, Li

doi:10.1053/j.gastro.2018.02.021

Cited by 243 publications

(248 citation statements)

References 95 publications

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“…The prediction from the joint score increased the AUC to 0.636. This AUC estimate is similar to AUCs reported from comprehensive large case–control and cohort studies on CRC risk, which combined environmental risk factors and SNPs, such as the Spanish population study with 21 SNPs and AUC = 0.63 and the study on multiple populations with 63 SNPs and AUC = 0.63 …”

Section: Discussionsupporting

confidence: 84%

“…This is in agreement with expectations, as the predictive performance of risk scores tested in independent and external samples is generally lower than in the sample used for model development. The prediction from the single GRS (AUC = 0.606) is within the range reported from large case–control studies on CRC risk, while using different set and number of SNPs (e.g., study on multiple populations mainly of north European descent, 10 SNPs, AUC = 0.57; multiple populations of European descent, 27 SNPs, AUC = 0.60; Spanish population, 21 SNPs, AUC = 0.56; multiple populations, 63 SNPs, AUC = 0.60). The prediction from the joint score increased the AUC to 0.636.…”

Section: Discussionsupporting

confidence: 82%

“…A limited number of independent SNPs was selected, whose incorporation in risk assessment within screening programs might be feasible and practical. Moreover, large studies with distinct number of SNPs have shown comparable performance between the derived polygenic scores . Despite the overall moderate sample size, sample size limitations allowed to assess only two genetic risk groups for the joint risk score.…”

Section: Discussionmentioning

confidence: 81%

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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

Weigl

Thomsen

et al. 2019

Intl Journal of Cancer

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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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Section: Discussionsupporting

confidence: 84%

Section: Discussionsupporting

confidence: 82%

Section: Discussionmentioning

confidence: 81%

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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

Weigl

Thomsen

et al. 2019

Intl Journal of Cancer

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“…Previous studies have shown that CRC is caused by environmental factors (e.g., diet and lifestyle) as well as genetic factors, which may play an essential role in CRC risk . Reliable screening measures are needed to diagnose CRC early; therefore, a genetic risk assessment tool to identify individuals at high risk for developing CRC is needed …”

Section: Introductionmentioning

confidence: 99%

“…Several previous genome‐wide association studies (GWASs) have identified single nucleotide polymorphisms (SNPs) associated with CRC risk . However, few studies have explored the value of these SNPs in evaluating an individual's risk of CRC, particularly in Chinese populations . Therefore, we systematically analyzed 85 GWAS‐identified SNPs (Supporting Information Table S1) using three large‐scale GWAS datasets to determine the potential applications of genetic variants (Supporting Information Table S2).…”

Section: Introductionmentioning

confidence: 99%

Combinations of single nucleotide polymorphisms identified in genome‐wide association studies determine risk for colorectal cancer

Xin

et al. 2019

Intl Journal of Cancer

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Genome‐wide association studies (GWASs) have identified single nucleotide polymorphisms (SNPs) associated with colorectal cancer (CRC) risk, but whether these SNPs have additive effects on the risk of CRC remains unclear. We performed a systematic analysis of GWAS‐identified SNPs using GWAS datasets from China (2,248 patients and 3,173 controls) and Europe (4,461 patients and 4,140 controls). We analyzed 58 independent variants from DNA samples from Chinese populations and found 19 SNPs that were significantly associated with CRC risk. We identified two genetic risk scores (GRSs) based on 58 and 19 SNPs, which were significantly associated with an increased risk of CRC. A decision curve analysis showed higher predictive power for the 58 SNPs. Using all the 58 SNPs to assess 5‐year absolute risk (AR), we found that, at a cutoff of 0.4% (two times the median AR) and 0.6% (three times the median AR), approximately 32.76 and 16.45% of Chinese individuals were grouped as high risk for developing CRC, respectively. Risk stratification analysis further indicated that the population in the top 30% risk group accounted for 46.71% of the CRC cases. In addition, the 58 SNPs could explain approximately 1.13% of the phenotypic variance in Chinese populations. Similar findings were found in European populations. Combinations of SNPs identified in GWASs may therefore be useful for identifying individuals at high risk for CRC.

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Low-Value Colorectal Cancer Screening

Issaka

Inadomi

2018

JAMA Netw Open

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Determining Risk of Colorectal Cancer and Starting Age of Screening Based on Lifestyle, Environmental, and Genetic Factors

Cited by 243 publications

References 95 publications

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

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

Combinations of single nucleotide polymorphisms identified in genome‐wide association studies determine risk for colorectal cancer

Low-Value Colorectal Cancer Screening

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