Developing an optimal stratification model for colorectal cancer screening and reducing racial disparities in multi-center population-based studies

Sung H, Ferlay J, Siegel RL, Laversanne M, Soerjomataram I, Jemal A, et al. Global Cancer Statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 2021;71(3):209–49.

Article  PubMed  Google Scholar 

Huang J, Lucero-Prisno DE 3rd, Zhang L, Xu W, Wong SH, Ng SC, et al. Updated epidemiology of gastrointestinal cancers in East Asia. Nat Rev Gastroenterol Hepatol. 2023;20(5):271–87.

Article  PubMed  Google Scholar 

Cardoso R, Guo F, Heisser T, Hackl M, Ihle P, De Schutter H, et al. Colorectal cancer incidence, mortality, and stage distribution in European countries in the colorectal cancer screening era: an international population-based study. Lancet Oncol. 2021;22(7):1002–13.

Article  PubMed  Google Scholar 

Dekker E, Tanis PJ, Vleugels JLA, Kasi PM, Wallace MB. Colorectal cancer. Lancet (London, England). 2019;394(10207):1467–80.

Article  PubMed  Google Scholar 

Nishihara R, Wu K, Lochhead P, Morikawa T, Liao X, Qian ZR, et al. Long-term colorectal-cancer incidence and mortality after lower endoscopy. N Engl J Med. 2013;369(12):1095–105.

Article  CAS  PubMed  Google Scholar 

Keum N, Giovannucci E. Global burden of colorectal cancer: emerging trends, risk factors and prevention strategies. Nat Rev Gastroenterol Hepatol. 2019;16(12):713–32.

Article  PubMed  Google Scholar 

Wang H, Cai Y, Jin M, Huang CQ, Ning C, Niu S, et al. Identification of specific susceptibility loci for the early-onset colorectal cancer. Genome medicine. 2023;15(1):13.

Article  PubMed  PubMed Central  Google Scholar 

Tian J, Chang J, Gong J, Lou J, Fu M, Li J, et al. Systematic functional interrogation of genes in GWAS loci identified ATF1 as a key driver in colorectal cancer modulated by a promoter-enhancer interaction. Am J Hum Genet. 2019;105(1):29–47.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zhang M, Chen C, Lu Z, Cai Y, Li Y, Zhang F, et al. Genetic control of alternative splicing and its distinct role in colorectal cancer mechanisms. Gastroenterology. 2023;165(5):1151-67.

Archambault AN, Jeon J, Lin Y, Thomas M, Harrison TA, Bishop DT, et al. Risk Stratification for early-onset colorectal cancer using a combination of genetic and environmental risk scores: an international multi-center study. J Natl Cancer Inst. 2022;114(4):528–39.

PubMed  PubMed Central  Google Scholar 

Thomas M, Sakoda LC, Hoffmeister M, Rosenthal EA, Lee JK, van Duijnhoven FJB, et al. Genome-wide modeling of polygenic risk score in colorectal cancer risk. Am J Hum Genet. 2020;107(3):432–44.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Xin J, Du M, Gu D, Jiang K, Wang M, Jin M, et al. Risk assessment for colorectal cancer via polygenic risk score and lifestyle exposure: a large-scale association study of East Asian and European populations. Genome medicine. 2023;15(1):4.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Frampton MJ, Law P, Litchfield K, Morris EJ, Kerr D, Turnbull C, et al. Implications of polygenic risk for personalised colorectal cancer screening. Ann Oncol. 2016;27(3):429–34.

Article  CAS  PubMed  Google Scholar 

Martin AR, Kanai M, Kamatani Y, Okada Y, Neale BM, Daly MJ. Clinical use of current polygenic risk scores may exacerbate health disparities. Nat Genet. 2019;51(4):584–91.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ruan Y, Lin YF, Feng YA, Chen CY, Lam M, Guo Z, et al. Improving polygenic prediction in ancestrally diverse populations. Nat Genet. 2022;54(5):573–80.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cai M, Xiao J, Zhang S, Wan X, Zhao H, Chen G, et al. A unified framework for cross-population trait prediction by leveraging the genetic correlation of polygenic traits. Am J Hum Genet. 2021;108(4):632–55.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kachuri L, Graff RE, Smith-Byrne K, Meyers TJ, Rashkin SR, Ziv E, et al. Pan-cancer analysis demonstrates that integrating polygenic risk scores with modifiable risk factors improves risk prediction. Nat Commun. 2020;11(1):6084.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Renehan AG, Tyson M, Egger M, Heller RF, Zwahlen M. Body-mass index and incidence of cancer: a systematic review and meta-analysis of prospective observational studies. Lancet (London, England). 2008;371(9612):569–78.

Article  PubMed  Google Scholar 

Li J, You L, Xu Z, Bai H, Fei X, Yang J, et al. Healthy lifestyle and the risk of conventional adenomas and serrated polyps: findings from a large colonoscopy screening population. Int J Cancer. 2022;151(1):67–76.

Article  CAS  PubMed  Google Scholar 

Zhu Y, Li X, Hu Y, Chen K, Zheng S, Ding K. Nonadherence to referral colonoscopy after positive fecal immunochemical test results increases the risk of distal colorectal cancer mortality. Gastroenterology. 2023;165(6):1558-60.e4.

Article  PubMed  Google Scholar 

Ye D, Huang Q, Li Q, Jiang X, Mamat M, Tang M, et al. comparative evaluation of preliminary screening methods for colorectal cancer in a mass program. Dig Dis Sci. 2017;62(9):2532–41.

Article  PubMed  Google Scholar 

Gohagan JK, Prorok PC, Greenwald P, Kramer BS. The PLCO cancer screening trial: background, goals, organization, operations, results. Rev Recent Clin Trials. 2015;10(3):173–80.

Article  PubMed  Google Scholar 

Rusk N, The UK. Biobank. Nat Methods. 2018;15(12):1001.

Article  CAS  PubMed  Google Scholar 

Huyghe JR, Bien SA, Harrison TA, Kang HM, Chen S, Schmit SL, et al. Discovery of common and rare genetic risk variants for colorectal cancer. Nat Genet. 2019;51(1):76–87.

Article  CAS  PubMed  Google Scholar 

Lu Y, Kweon SS, Tanikawa C, Jia WH, Xiang YB, Cai Q, et al. Large-scale genome-wide association study of East Asians identifies loci associated with risk for colorectal cancer. Gastroenterology. 2019;156(5):1455–66.

Article  PubMed  Google Scholar 

Willer CJ, Li Y, Abecasis GR. METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics. 2010;26(17):2190–1.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kurki MI, Karjalainen J, Palta P, Sipilä TP, Kristiansson K, Donner KM, et al. FinnGen provides genetic insights from a well-phenotyped isolated population. Nature. 2023;613(7944):508–18.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Schumacher FR, Schmit SL, Jiao S, Edlund CK, Wang H, Zhang B, et al. Genome-wide association study of colorectal cancer identifies six new susceptibility loci. Nat Commun. 2015;6:7138.

Article  PubMed  Google Scholar 

Souverijn JH. Multitarget stool DNA testing for colorectal-cancer screening. N Engl J Med. 2014;371(2):187.

CAS  PubMed  Google Scholar 

Vilhjálmsson BJ, Yang J, Finucane HK, Gusev A, Lindström S, Ripke S, et al. Modeling linkage disequilibrium increases accuracy of polygenic risk scores. Am J Hum Genet. 2015;97(4):576–92.

Article  PubMed  PubMed Central  Google Scholar 

Ge T, Chen CY, Ni Y, Feng YA, Smoller JW. Polygenic prediction via Bayesian regression and continuous shrinkage priors. Nat Commun. 2019;10(1):1776.

Article  PubMed  PubMed Central  Google Scholar 

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