Validation of a Genetic-Enhanced Risk Prediction Model for Colorectal Cancer in a Large Community-Based Cohort

被引：1

作者：

Su, Yu-Ru ^{[1
,2
]}

Sakoda, Lori C. ^{[2
,3
,4
]}

Jeon, Jihyoun ^{[5
]}

Thomas, Minta ^{[2
]}

Lin, Yi ^{[2
]}

Schneider, Jennifer L. ^{[3
]}

Udaltsova, Natalia ^{[3
]}

Lee, Jeffrey K. ^{[3
,6
]}

Lansdorp-Vogelaar, Iris ^{[7
]}

Peterse, Elisabeth F. P. ^{[7
]}

Zauber, Ann G. ^{[8
]}

Zheng, Jiayin ^{[2
]}

Zheng, Yingye ^{[2
]}

Hauser, Elizabeth ^{[9
]}

Baron, John A. ^{[10
]}

Barry, Elizabeth L. ^{[11
]}

Bishop, D. Timothy ^{[12
]}

Brenner, Hermann ^{[13
]}

Buchanan, Daniel D. ^{[14
]}

Burnett-Hartman, Andrea ^{[15
]}

Campbell, Peter T. ^{[16
]}

Casey, Graham ^{[17
]}

Castellvi-Bel, Sergi ^{[18
]}

Chan, Andrew T. ^{[19
,20
]}

Chang-Claude, Jenny ^{[21
]}

Figueiredo, Jane C. ^{[22
]}

Gallinger, Steven J. ^{[23
]}

Giles, Graham G. ^{[24
]}

Gruber, Stephen B. ^{[25
,26
]}

Gsur, Andrea ^{[27
]}

Gunter, Marc J. ^{[28
]}

Hampe, Jochen ^{[29
]}

Hampel, Heather ^{[30
]}

Harrison, Tabitha A. ^{[2
]}

Hoffmeister, Michael ^{[13
]}

Hua, Xinwei ^{[2
]}

Huyghe, Jeroen R. ^{[2
]}

Jenkins, Mark A. ^{[31
]}

Keku, Temitope O. ^{[32
]}

Le Marchand, Loic ^{[33
]}

Li, Li ^{[34
]}

Lindblom, Annika ^{[35
]}

Moreno, Victor ^{[36
]}

Newcomb, Polly A. ^{[2
]}

Pharoah, Paul D. P. ^{[37
]}

Platz, Elizabeth A. ^{[38
]}

Potter, John D. ^{[2
]}

Qu, Conghui ^{[2
]}

Rennert, Gad ^{[39
,40
]}

Schoen, Robert E. ^{[41
]}

机构：

[1] Kaiser Permanente, Washington Hlth Res Inst, Biostat Unit, Seattle, WA USA

[2] Fred Hutchinson Canc Res Ctr, Publ Hlth Sci Div, Seattle, WA USA

[3] Kaiser Permanente Northern Calif, Div Res, Oakland, CA USA

[4] Kaiser Permanente, Dept Hlth Syst Sci, Bernard J Tyson Sch Med, Pasadena, CA USA

[5] Univ Michigan, Dept Epidemiol, Ann Arbor, MI USA

[6] Kaiser Permanente, Dept Gastroenterol, San Francisco Med Ctr, San Francisco, CA USA

[7] Erasmus MC, Univ Med Ctr, Dept Publ Hlth, Rotterdam, Netherlands

[8] Mem Sloan Kettering Canc Ctr, Dept Epidemiol & Biostat, New York, NY USA

[9] Durham Vet Affairs Hlth Care Syst, VA Cooperat Studies Program Epidemiol Ctr, Durham, NC USA

[10] Univ N Carolina, Sch Med, Dept Med, Chapel Hill, NC USA

[11] Geisel Sch Med, Dept Epidemiol, Hanover, NH USA

[12] Univ Leeds, Leeds Inst Canc & Pathol, Leeds, W Yorkshire, England

[13] German Canc Res Ctr, Div Clin Epidemiol & Aging Res, Heidelberg, Germany

[14] Univ Melbourne, Dept Clin Pathol, Colorectal Oncogenom Grp, Parkville, Vic, Australia

[15] Kaiser Permanente Colorado, Inst Hlth Res, Denver, CO USA

[16] Amer Canc Soc, Behav & Epidemiol Res Grp, Atlanta, GA USA

[17] Univ Virginia, Ctr Publ Hlth Genom, Charlottesville, VA USA

[18] Univ Barcelona, Inst Invest Biomed August Pi & Sunyer IDIBAPS, Hosp Clin, Dept Gastroenterol,CIBEREHD, Barcelona, Spain

[19] Massachusetts Gen Hosp, Div Gastroenterol, Boston, MA USA

[20] Harvard Med Sch, Boston, MA USA

[21] German Canc Res Ctr, Div Canc Epidemiol, Heidelberg, Germany

[22] Cedars Sinai Med Ctr, Samuel Oschin Comprehens Canc Inst, Dept Med, Los Angeles, CA USA

[23] Univ Toronto, Lunenfeld Tanenbaum Res Inst, Mt Sinai Hosp, Toronto, ON, Canada

[24] Canc Council Victoria, Canc Epidemiol Div, Melbourne, Vic, Australia

[25] Univ Southern Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA USA

[26] Univ Southern Calif, Keck Sch Med, USC Norris Comprehens Canc Ctr, Los Angeles, CA USA

[27] Med Univ Vienna, Dept Med, Inst Canc Res, Vienna, Austria

[28] World Hlth Org, Nutr & Metab Sect, Int Agcy Res Canc, Lyon, France

[29] Tech Univ Dresden, Univ Hosp Dresden, Dept Med 1, Dresden, Germany

[30] Ohio State Univ, Dept Internal Med, Ctr Comprehens Canc, Div Human Genet, Columbus, OH USA

[31] Univ Melbourne, Melbourne Sch Populat & Global Hlth, Ctr Epidemiol & Biostat, Melbourne, Australia

[32] Univ N Carolina, Ctr Gastrointestinal Biol & Dis, Chapel Hill, NC USA

[33] Univ Hawaii, Ctr Canc, Honolulu, HI USA

[34] Univ Virginia, Dept Family Med, Charlottesville, VA USA

[35] Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden

[36] Catalan Inst Oncol IDIBELL, Oncol Data Analyt Program, Barcelona, Spain

[37] Univ Cambridge, Dept Publ Hlth & Primary Care, Cambridge, England

[38] Johns Hopkins Bloomberg Sch Publ Hlth, Dept Epidemiol, Baltimore, MD USA

[39] Lady Davis Carmel Med Ctr, Dept Community Med & Epidemiol, Haifa, Israel

[40] Technion Israel Inst Technol, Haifa, Israel

[41] Univ Pittsburgh, Dept Med & Epidemiol, Med Ctr, Pittsburgh, PA USA

[42] Univ Utah, Dept Internal Med, Salt Lake City, UT USA

[43] Massachusetts Gen Hosp, Clin & Translat Epidemiol Unit, Boston, MA USA

[44] Wageningen Univ & Res, Div Human Nutr & Hlth, Wageningen, Netherlands

[45] Umea Univ, Oncol Unit, Dept Radiat Sci, Umea, Sweden

[46] Umea Univ, Wallenberg Ctr Mol Med, Umea, Sweden

[47] Czech Acad Sci, Inst Expt Med, Dept Mol Biol Canc, Prague, Czech Republic

[48] Charles Univ Prague, Fac Med Pilsen, Biomed Ctr, Prague, Czech Republic

[49] Karolinska Inst, Inst Environm Med, Stockholm, Sweden

[50] Mem Univ Newfoundland, Discipline Genet, St John, NF, Canada

来源：

CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION | 2023年 / 32卷 / 03期

关键词：

EPIDEMIOLOGY RESEARCH; BREAST-CANCER; ADULT HEALTH; PROBABILITIES; HISTORY; SCORES; FAMILY; COLON; MEN;

D O I：

10.1158/1055-9965.EPI-22-0817

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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 cal-ibration 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.

引用

页码：353 / 362

页数：10

共 50 条

[1] Validation of Risk Prediction Models for Atherosclerotic Cardiovascular Disease in a Prospective Korean Community-Based Cohort
Bae, Jae Hyun
Moon, Min Kyong
Oh, Sohee
Koo, Bo Kyung
Cho, Nam Han
Lee, Moon-Kyu
DIABETES & METABOLISM JOURNAL, 2020, 44 (03) : 458 - 469
[2] Predicting Risk of Colorectal Cancer After Adenoma Removal in a Large Community-Based Setting
Lee, Jeffrey K.
Jensen, Christopher D.
Udaltsova, Natalia
Zheng, Yingye
Levin, Theodore R.
Chubak, Jessica
Kamineni, Aruna
Halm, Ethan A.
Skinner, Celette S.
Schottinger, Joanne E.
Ghai, Nirupa R.
Burnett-Hartman, Andrea
Issaka, Rachel
Corley, Douglas A.
AMERICAN JOURNAL OF GASTROENTEROLOGY, 2024, 119 (08): : 1590 - 1599
[3] ADVANCING COLORECTAL CANCER RISK PREDICTION: A COMPREHENSIVE AI-BASED MODEL WITH ENHANCED DETECTION AND VALIDATION STRATEGIES
Sidhu, Guneet
Weaver, Max
Almasri, Hussam
Ohman, Emilee
Bassett, John T.
GASTROENTEROLOGY, 2024, 166 (05) : S977 - S978
[4] Development and validation of a colorectal cancer prediction model: A nationwide cohort-based study
Hayek, Samah
CANCER RESEARCH, 2024, 84 (06)
[5] Development and Validation of a Colorectal Cancer Prediction Model: A Nationwide Cohort-Based Study
Isakov, Ofer
Riesel, Dan
Leshchinsky, Michael
Shaham, Galit
Reis, Ben Y.
Keret, Dan
Levi, Zohar
Brener, Baruch
Balicer, Ran
Dagan, Noa
Hayek, Samah
DIGESTIVE DISEASES AND SCIENCES, 2024, 69 (07) : 2611 - 2620
[6] Risk and Predictors of Recurrent Ischemic Stroke in a Large, Community-based Cohort
Navi, Babak B.
Kamel, Hooman
Sidney, Stephen
Hills, Nancy K.
Nguyen-Huynh, Mai N.
Johnston, S. Claiborne
STROKE, 2010, 41 (04) : E364 - E364
[7] Implementation and Evaluation of a Large Community-Based Colorectal Cancer Screening Program
Shokar, Navkiran K.
Calderon-Mora, Jessica
Salaiz, Rebekah
Casner, Nancy
Zuckerman, Marc J.
Byrd, Theresa L.
Shokar, Gurjeet S.
Dwivedi, Alok
JOURNAL OF PUBLIC HEALTH MANAGEMENT AND PRACTICE, 2024, 30 (03): : E143 - E153
[8] DEVELOPMENT AND VALIDATION OF A PREDICTION MODEL FOR METACHRONOUS COLORECTAL CANCER IN COLORECTAL CANCER SURVIVORS: A PROSPECTIVE COHORT STUDY
Zhang, Ye
Karahalios, Amalia
Makalic, Enes
Win, Aung K.
Boussioutas, Alex
Jenkins, Mark
GASTROENTEROLOGY, 2024, 166 (05) : S363 - S363
[9] CONSTRUCTION AND VALIDATION OF A COLORECTAL CANCER RISK PREDICTION MODEL IN COLORECTAL CANCER SCREENING POPULATION OF CHINA
Guo, Lanwei
Zheng, Liyang
Chen, Qiong
Zhang, Shaokai
GUT, 2022, 71 : A114 - A114
[10] Metabolic Syndrome and Colorectal Cancer Risk: Results of Propensity Score-Based Analyses in a Community-Based Cohort Study
Kim, Jinsun
Park, Eun Young
Park, Eunjung
Lim, Min Kyung
Oh, Jin-Kyoung
Kim, Byungmi
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH, 2020, 17 (22) : 1 - 11

← 1 2 3 4 5 →