TY - JOUR
AU - Su, Yu-Ru
AU - Sakoda, Lori C
AU - Jeon, Jihyoun
AU - Thomas, Minta
AU - Lin, Yi
AU - Schneider, Jennifer L
AU - Udaltsova, Natalia
AU - Lee, Jeffrey K
AU - Lansdorp-Vogelaar, Iris
AU - Peterse, Elisabeth F P
AU - Zauber, Ann G
AU - Zheng, Jiayin
AU - Zheng, Yingye
AU - Hauser, Elizabeth
AU - Baron, John A
AU - Barry, Elizabeth L
AU - Bishop, D Timothy
AU - Brenner, Hermann
AU - Buchanan, Daniel D
AU - Burnett-Hartman, Andrea
AU - Campbell, Peter T
AU - Casey, Graham
AU - Castellví-Bel, Sergi
AU - Chan, Andrew T
AU - Chang-Claude, Jenny
AU - Figueiredo, Jane C
AU - Gallinger, Steven J
AU - Giles, Graham G
AU - Gruber, Stephen B
AU - Gsur, Andrea
AU - Gunter, Marc J
AU - Hampe, Jochen
AU - Hampel, Heather
AU - Harrison, Tabitha A
AU - Hoffmeister, Michael
AU - Hua, Xinwei
AU - Huyghe, Jeroen R
AU - Jenkins, Mark A
AU - Keku, Temitope O
AU - Le Marchand, Loic
AU - Li, Li
AU - Lindblom, Annika
AU - Moreno, Victor
AU - Newcomb, Polly A
AU - Pharoah, Paul D P
AU - Platz, Elizabeth A
AU - Potter, John D
AU - Qu, Conghui
AU - Rennert, Gad
AU - Schoen, Robert E
AU - Slattery, Martha L
AU - Song, Mingyang
AU - van Duijnhoven, Fränzel J B
AU - Van Guelpen, Bethany
AU - Vodicka, Pavel
AU - Wolk, Alicja
AU - Woods, Michael O
AU - Wu, Anna H
AU - Hayes, Richard B
AU - Peters, Ulrike
AU - Corley, Douglas A
AU - Hsu, Li
TI - Validation of a genetic-enhanced risk prediction model for colorectal cancer in a large community-based cohort.
JO - Cancer epidemiology, biomarkers & prevention
VL - 32
IS - 3
SN - 1055-9965
CY - Philadelphia, Pa.
PB - AACR
M1 - DKFZ-2023-00065
SP - 353–362
PY - 2023
AB - Polygenic risk scores (PRS) which summarize individuals' genetic risk profile may enhance targeted colorectal cancer (CRC) screening. A critical step towards clinical implementation is rigorous external validations in large community-based cohorts. This study externally validated a PRS-enhanced CRC risk model comprising 140 known CRC loci to provide a comprehensive assessment on prediction performance.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 CRC 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 45-74 years (screening-eligible age group) and 40-49 years with no endoscopy history (younger-age group).In European-ancestral individuals, the predicted 5-year risk calibrated well (E/O=1.01 (95
LB - PUB:(DE-HGF)16
C6 - pmid:36622766
DO - DOI:10.1158/1055-9965.EPI-22-0817
UR - https://inrepo02.dkfz.de/record/186696
ER -