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.
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.
Siegel RL, Torre LA, Soerjomataram I, Hayes RB, Bray F, Weber TK, et al. Global patterns and trends in colorectal cancer incidence in young adults. Gut. 2019;68(12):2179–85.
Vuik FE, Nieuwenburg SA, Bardou M, Lansdorp-Vogelaar I, Dinis-Ribeiro M, Bento MJ, et al. Increasing incidence of colorectal cancer in young adults in Europe over the last 25 years. Gut. 2019;68(10):1820–6.
Bailey CE, Hu CY, You YN, Bednarski BK, Rodriguez-Bigas MA, Skibber JM, et al. Increasing disparities in the age-related incidences of colon and rectal cancers in the United States, 1975-2010. JAMA Surg. 2015;150(1):17–22.
Article PubMed PubMed Central Google Scholar
Corley DA, Peek RM Jr. When should guidelines change? A clarion call for evidence regarding the benefits and risks of screening for colorectal cancer at earlier ages. Gastroenterology. 2018;155(4):947–9.
Akimoto N, Ugai T, Zhong R, Hamada T, Fujiyoshi K, Giannakis M, et al. Rising incidence of early-onset colorectal cancer - a call to action. Nat Rev Clin Oncol. 2021;18(4):230–43.
Yeo H, Betel D, Abelson JS, Zheng XE, Yantiss R, Shah MA. Early-onset colorectal cancer is distinct from traditional colorectal cancer. Clin Colorectal Cancer. 2017;16(4):293–9.e6.
Archambault AN, Su YR, Jeon J, Thomas M, Lin Y, Conti DV, et al. Cumulative burden of colorectal cancer-associated genetic variants is more strongly associated with early-onset vs late-onset cancer. Gastroenterology. 2020;158(5):1274–86.e12.
Article CAS PubMed Google Scholar
Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med. 2005;352(18):1851–60.
Article CAS PubMed Google Scholar
Boland PM, Yurgelun MB, Boland CR. Recent progress in Lynch syndrome and other familial colorectal cancer syndromes. CA Cancer J Clin. 2018;68(3):217–31.
Article PubMed PubMed Central Google Scholar
Koskenvuo L, Ryynanen H, Lepisto A. Timing of prophylactic colectomy in familial adenomatous polyposis. Colorectal Dis. 2020;22(11):1553–9.
Article CAS PubMed Google Scholar
O’Sullivan DE, Sutherland RL, Town S, Chow K, Fan J, Forbes N, et al. Risk factors for early-onset colorectal cancer: a systematic review and meta-analysis. Clin Gastroenterol Hepatol. 2022;20(6):1229–40.e5.
Burnett-Hartman AN, Lee JK, Demb J, Gupta S. An update on the epidemiology, molecular characterization, diagnosis, and screening strategies for early-onset colorectal cancer. Gastroenterology. 2021;160(4):1041–9.
Tam V, Patel N, Turcotte M, Bosse Y, Pare G, Meyre D. Benefits and limitations of genome-wide association studies. Nat Rev Genet. 2019;20(8):467–84.
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 phs001078.v1.p1 (https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001078.v1.p1); phs001315.v1.p1 (https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001315.v1.p1); and phs001415.v1.p1 (https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001415.v1.p1).
Article CAS PubMed Google Scholar
Bycroft C, Freeman C, Petkova D, Band G, Elliott LT, Sharp K, et al. Genome-wide genetic data on ~500,000 UK Biobank participants; 2017. p. 166298.
Das S, Forer L, Schonherr S, Sidore C, Locke AE, Kwong A, et al. Next-generation genotype imputation service and methods. Nat Genet. 2016;48(10):1284–7.
Article CAS PubMed PubMed Central Google Scholar
McCarthy S, Das S, Kretzschmar W, Delaneau O, Wood AR, Teumer A, et al. A reference panel of 64,976 haplotypes for genotype imputation. Nat Genet. 2016;48(10):1279–83.
Article CAS PubMed PubMed Central Google Scholar
Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81(3):559–75.
Article CAS PubMed PubMed Central Google Scholar
Euesden J, Lewis CM, O'Reilly PF. PRSice: Polygenic Risk Score software. Bioinformatics. 2015;31(9):1466–8.
Article CAS PubMed Google Scholar
Zhang B, Jia WH, Matsuda K, Kweon SS, Matsuo K, Xiang YB, et al. Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. Nat Genet. 2014;46(6):533–42.
Article CAS PubMed PubMed Central Google Scholar
Houlston RS, Cheadle J, Dobbins SE, Tenesa A, Jones AM, Howarth K, et al. Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33. Nat Genet. 2010;42(11):973–7.
Article CAS PubMed PubMed Central Google Scholar
Tanoue T, Moriguchi T, Nishida E. Molecular cloning and characterization of a novel dual specificity phosphatase, MKP-5. J Biol Chem. 1999;274(28):19949–56.
Article CAS PubMed Google Scholar
Png CW, Weerasooriya M, Guo J, James SJ, Poh HM, Osato M, et al. DUSP10 regulates intestinal epithelial cell growth and colorectal tumorigenesis. Oncogene. 2016;35(2):206–17.
Article CAS PubMed Google Scholar
Cheng YC, Hsiao FC, Yeh EC, Lin WJ, Tang CY, Tseng HC, et al. VarioWatch: providing large-scale and comprehensive annotations on human genomic variants in the next generation sequencing era. Nucleic Acids Res. 2012;40(Web Server issue):W76–81.
Article CAS PubMed PubMed Central Google Scholar
Yi JM, Dhir M, Guzzetta AA, Iacobuzio-Donahue CA, Heo K, Yang KM, et al. DNA methylation biomarker candidates for early detection of colon cancer. Tumour Biol. 2012;33(2):363–72.
Article CAS PubMed Google Scholar
Kim TO, Park J, Kang MJ, Lee SH, Jee SR, Ryu DY, et al. DNA hypermethylation of a selective gene panel as a risk marker for colon cancer in patients with ulcerative colitis. Int J Mol Med. 2013;31(5):1255–61.
Article CAS PubMed Google Scholar
Pinero J, Bravo A, Queralt-Rosinach N, Gutierrez-Sacristan A, Deu-Pons J, Centeno E, et al. DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants. Nucleic Acids Res. 2017;45(D1):D833–D9.
Article CAS PubMed Google Scholar
Song M, Emilsson L, Roelstraete B, Ludvigsson JF. Risk of colorectal cancer in first degree relatives of patients with colorectal polyps: nationwide case-control study in Sweden. BMJ. 2021;373:n877.
Article PubMed PubMed Central Google Scholar
Ward LD, Kellis M. HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants. Nucleic Acids Res. 2012;40(Database issue):D930–4.
Article CAS PubMed Google Scholar
Dang TT, Morales JC. Involvement of POLA2 in double strand break repair and genotoxic stress. Int J Mol Sci. 2020;21(12):4245.
Article CAS PubMed PubMed Central Google Scholar
Meyers RM, Bryan JG, McFarland JM, Weir BA, Sizemore AE, Xu H, et al. Computational correction of copy number effect improves specificity of CRISPR-Cas9 essentiality screens in cancer cells. Nat Genet. 2017;49(12):1779–84.
Article CAS PubMed PubMed Central Google Scholar
Szklarczyk D, Gable AL, Lyon D, Junge A, Wyder S, Huerta-Cepas J, et al. STRING v11: protein-protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets. Nucleic Acids Res. 2019;47(D1):D607–D13.
Article CAS PubMed Google Scholar
Akimoto N, Ugai T, Zhong R, Hamada T, Fujiyoshi K, Giannakis M, et al. Rising incidence of early-onset colorectal cancer - a call to action. Nat Rev Clin Oncol. 2021;18(4):230–43.
Pearlman R, Frankel WL, Swanson B, Zhao W, Yilmaz A, Miller K, et al. Prevalence and spectrum of germline cancer susceptibility gene mutations among patients with early-onset colorectal cancer. JAMA Oncol. 2017;3(4):464–71.
Article PubMed PubMed Central Google Scholar
Hofseth LJ, Hebert JR, Chanda A, Chen H, Love BL, Pena MM, et al. Early-onset colorectal cancer: initial clues and current views. Nat Rev Gastroenterol Hepatol. 2020;17(6):352–64.
Palles C, Cazier JB, Howarth KM, Domingo E, Jones AM, Broderick P, et al. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to color
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