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Validation of a Genetic-Enhanced Risk Prediction Model for Colorectal Cancer in a Large Community-Based Cohort
YR. Su, LC. Sakoda, J. Jeon, M. Thomas, Y. Lin, JL. Schneider, N. Udaltsova, JK. Lee, I. Lansdorp-Vogelaar, EFP. Peterse, AG. Zauber, J. Zheng, Y. Zheng, E. Hauser, JA. Baron, EL. Barry, DT. Bishop, H. Brenner, DD. Buchanan, A. Burnett-Hartman,...
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, Research Support, N.I.H., Extramural
Grantová podpora
K07 CA212057
NCI NIH HHS - United States
R01 CA244588
NCI NIH HHS - United States
R01 CA189532
NCI NIH HHS - United States
R03 CA215775
NCI NIH HHS - United States
K07 CA188142
NCI NIH HHS - United States
R01 CA195789
NCI NIH HHS - United States
UM1 CA222035
NCI NIH HHS - United States
R01 CA206279
NCI NIH HHS - United States
S10 OD028685
NIH HHS - United States
Freely Accessible Science Journals od 1991 do Před 12 měsíci
Open Access Digital Library od 1991-11-01
Open Access Digital Library od 1991-11-01
Odkazy
PubMed
36622766
DOI
10.1158/1055-9965.epi-22-0817
Knihovny.cz E-zdroje
- MeSH
- hodnocení rizik MeSH
- kolorektální nádory * epidemiologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- rizikové faktory MeSH
- senioři MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- senioři MeSH
- Publikační typ
- časopisecké články MeSH
- Research Support, N.I.H., Extramural MeSH
BACKGROUND: Polygenic risk scores (PRS) which summarize individuals' genetic risk profile may enhance targeted colorectal cancer screening. A critical step towards clinical implementation is rigorous external validations in large community-based cohorts. This study externally validated a PRS-enhanced colorectal cancer risk model comprising 140 known colorectal cancer loci to provide a comprehensive assessment on prediction performance. METHODS: The model was developed using 20,338 individuals and externally validated in a community-based cohort (n = 85,221). We validated predicted 5-year absolute colorectal cancer risk, including calibration using expected-to-observed case ratios (E/O) and calibration plots, and discriminatory accuracy using time-dependent AUC. The PRS-related improvement in AUC, sensitivity and specificity were assessed in individuals of age 45 to 74 years (screening-eligible age group) and 40 to 49 years with no endoscopy history (younger-age group). RESULTS: In European-ancestral individuals, the predicted 5-year risk calibrated well [E/O = 1.01; 95% confidence interval (CI), 0.91-1.13] and had high discriminatory accuracy (AUC = 0.73; 95% CI, 0.71-0.76). Adding the PRS to a model with age, sex, family and endoscopy history improved the 5-year AUC by 0.06 (P < 0.001) and 0.14 (P = 0.05) in the screening-eligible age and younger-age groups, respectively. Using a risk-threshold of 5-year SEER colorectal cancer incidence rate at age 50 years, adding the PRS had a similar sensitivity but improved the specificity by 11% (P < 0.001) in the screening-eligible age group. In the younger-age group it improved the sensitivity by 27% (P = 0.04) with similar specificity. CONCLUSIONS: The proposed PRS-enhanced model provides a well-calibrated 5-year colorectal cancer risk prediction and improves discriminatory accuracy in the external cohort. IMPACT: The proposed model has potential utility in risk-stratified colorectal cancer prevention.
Behavioral and Epidemiology Research Group American Cancer Society Atlanta Georgia
Biomedical Center Faculty of Medicine Pilsen Charles University Prague Czech Republic
Biostatistics Unit Kaiser Permanente Washington Health Research Institute Seattle Washington
Cancer Epidemiology Division Cancer Council Victoria Melbourne Victoria Australia
Center for Public Health Genomics University of Virginia Charlottesville Virginia
Department of Clinical Genetics Karolinska University Hospital Stockholm Sweden
Department of Epidemiology Geisel School of Medicine at Dartmouth Hanover New Hampshire
Department of Epidemiology Johns Hopkins Bloomberg School of Public Health Baltimore Maryland
Department of Epidemiology University of Michigan Ann Arbor Michigan
Department of Family Medicine University of Virginia Charlottesville Virginia
Department of Internal Medicine University of Utah Salt Lake City Utah
Department of Medicine 1 University Hospital Dresden Technische Universität Dresden Dresden Germany
Department of Medicine University of North Carolina School of Medicine Chapel Hill North Carolina
Department of Public Health and Primary Care University of Cambridge Cambridge United Kingdom
Department of Public Health Erasmus MC University Medical Center Rotterdam the Netherlands
Department of Radiation Sciences Oncology Unit Umeå University Umeå Sweden
Division of Cancer Epidemiology German Cancer Research Center Heidelberg Germany
Division of Human Nutrition and Health Wageningen University and Research Wageningen the Netherlands
Division of Research Kaiser Permanente Northern California Oakland California
Institute for Health Research Kaiser Permanente Colorado Denver Colorado
Institute of Cancer Research Department of Medicine 1 Medical University Vienna Vienna Austria
Institute of Environmental Medicine Karolinska Institutet Stockholm Sweden
Leeds Institute of Cancer and Pathology University of Leeds Leeds United Kingdom
Memorial University of Newfoundland Discipline of Genetics St John's Canada
Public Health Sciences Division Fred Hutchinson Cancer Research Center Seattle Washington
University of Hawaii Cancer Center Honolulu Hawaii
Wallenberg Centre for Molecular Medicine Umeå University Umeå Sweden
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