as a colorectal cancer predisposition gene: an integrated review of the literature and evaluation in 9738 cases and 161,403 controls

Siegel RL, Kratzer TB, Wagle NS, Sung H, Jemal A (2026) Cancer statistics. CA Cancer J Clin. https://doi.org/10.3322/caac.70043

Article  PubMed  PubMed Central  Google Scholar 

Byrne RM, Tsikitis VL (2017) Colorectal polyposis and inherited colorectal cancer syndromes. Ann Gastroenterol. https://doi.org/10.20524/aog.2017.0218

Article  PubMed  PubMed Central  Google Scholar 

Olkinuora AP, Peltomäki PT, Aaltonen LA, Rajamäki K (2021) From APC to the genetics of hereditary and familial colon cancer syndromes. Hum Mol Genet. https://doi.org/10.1093/hmg/ddab208

Article  PubMed  PubMed Central  Google Scholar 

Nieminen TT, O’Donohue M-F, Wu Y, Lohi H, Scherer SW, Paterson AD, Ellonen P, Abdel-Rahman WM, Valo S, Mecklin J-P (2014) Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency. Gastroenterology. https://doi.org/10.1053/j.gastro.2014.06.009

Broderick P, Dobbins SE, Chubb D, Kinnersley B, Dunlop MG, Tomlinson I, Houlston RS (2017) Validation of recently proposed colorectal cancer susceptibility gene variants in an analysis of families and patients—a systematic review. Gastroenterology. https://doi.org/10.1053/j.gastro.2016.09.041

Thompson BA, Snow AK, Koptiuch C, Kohlmann WK, Mooney R, Johnson S, Huff CD, Yu Y, Teerlink CC, Feng BJ, Neklason DW, Cannon-Albright LA, Tavtigian SV (2020) A novel ribosomal protein S20 variant in a family with unexplained colorectal cancer and polyposis. Clin Genet. https://doi.org/10.1111/cge.13757

Article  PubMed  Google Scholar 

Belhadj S, Terradas M, Munoz-Torres PM, Aiza G, Navarro M, Capella G, Valle L (2020) Candidate genes for hereditary colorectal cancer: mutational screening and systematic review. Hum Mutat. https://doi.org/10.1002/humu.24057

Article  PubMed  Google Scholar 

Djursby M, Madsen MB, Frederiksen JH, Berchtold LA, Therkildsen C, Willemoe GL, Hasselby JP, Wikman F, Okkels H, Skytte A-B (2020) New pathogenic germline variants in very early onset and familial colorectal cancer patients. Front Genet. https://doi.org/10.3389/fgene.2020.566266

Article  PubMed  PubMed Central  Google Scholar 

Amiot J, Gubeljak L, Fontaine A, Smith D, Mortemousque I, Parodi N, Mauillon J, Kasper E, Baert-Desurmont S, Tinat J (2025) New RPS20 gene variant in colorectal cancer diagnosis: insight from a large series of patients. Fam Cancer. https://doi.org/10.1007/s10689-025-00446-y

Article  PubMed  Google Scholar 

Herrera-Mullar J, Carraway C, Marsh AP, Hernandez F, Kudalkar E, Richardson ME (2025) Association of RPS20 loss-of-function variants with colorectal cancer risk in a cohort of over 950,000 individuals. JCO Precis Oncol. https://doi.org/10.1200/PO-25-00214

Catalanotto C, Barbato C, Cogoni C, Benelli D (2023) The RNA-binding function of ribosomal proteins and ribosome biogenesis factors in human health and disease. Biomedicines. https://doi.org/10.3390/biomedicines11112969

Hornbeck PV, Kornhauser JM, Tkachev S, Zhang B, Skrzypek E, Murray B, Latham V, Sullivan M (2012) PhosphoSitePlus: a comprehensive resource for investigating the structure and function of experimentally determined post-translational modifications in man and mouse. Nucleic Acids Res. https://doi.org/10.1093/nar/gkr1122

Article  PubMed  Google Scholar 

Ou J, Zhu LJ (2019) trackViewer: a Bioconductor package for interactive and integrative visualization of multi-omics data. Nat Methods. https://doi.org/10.1038/s41592-019-0430-y

Article  PubMed  Google Scholar 

Mitterer V, Shayan R, Ferreira-Cerca S, Murat G, Enne T, Rinaldi D, Weigl S, Omanic H, Gleizes P-E, Kressler D (2019) Conformational proofreading of distant 40S ribosomal subunit maturation events by a long-range communication mechanism. Nat Commun. https://doi.org/10.1038/s41467-019-10678-z

Article  PubMed  PubMed Central  Google Scholar 

Sundaramoorthy E, Leonard M, Mak R, Liao J, Fulzele A, Bennett EJ (2017) ZNF598 and RACK1 regulate mammalian ribosome-associated quality control function by mediating regulatory 40S ribosomal ubiquitylation. Mol Cell. https://doi.org/10.1016/j.molcel.2016.12.026

Article  PubMed  PubMed Central  Google Scholar 

Matsuo Y, Ikeuchi K, Saeki Y, Iwasaki S, Schmidt C, Udagawa T, Sato F, Tsuchiya H, Becker T, Tanaka K (2017) Ubiquitination of stalled ribosome triggers ribosome-associated quality control. Nat Commun. https://doi.org/10.1038/s41467-017-00188-1

Article  PubMed  PubMed Central  Google Scholar 

Ikeuchi K, Tesina P, Matsuo Y, Sugiyama T, Cheng J, Saeki Y, Tanaka K, Becker T, Beckmann R, Inada T (2019) Collided ribosomes form a unique structural interface to induce Hel2-driven quality control pathways. EMBO J. https://doi.org/10.15252/embj.2018100276

Article  PubMed  PubMed Central  Google Scholar 

Daftuar L, Zhu Y, Jacq X, Prives C (2013) Ribosomal proteins RPL37, RPS15 and RPS20 regulate the Mdm2-p53-MdmX network. PLoS ONE. https://doi.org/10.1371/journal.pone.0068667

Article  PubMed  PubMed Central  Google Scholar 

Krishnan R, Boddapati N, Mahalingam S (2018) Interplay between human nucleolar GNL1 and RPS20 is critical to modulate cell proliferation. Sci Rep. https://doi.org/10.1038/s41598-018-29802-y

Article  PubMed  PubMed Central  Google Scholar 

O’Donohue M-F, Choesmel V, Faubladier M, Fichant G, Gleizes P-E (2010) Functional dichotomy of ribosomal proteins during the synthesis of mammalian 40S ribosomal subunits. J Cell Biol. https://doi.org/10.1083/jcb.201005117

Article  PubMed  PubMed Central  Google Scholar 

Zhang Z, Harrison P, Gerstein M (2002) Identification and analysis of over 2000 ribosomal protein pseudogenes in the human genome. Genome Res. https://doi.org/10.1101/gr.331902

Article  PubMed  PubMed Central  Google Scholar 

The National Genomic Research Library, Genomics England (2024) https://doi.org/10.6084/m9.figshare.4530893

Bycroft C, Freeman C, Petkova D, Band G, Elliott LT, Sharp K, Motyer A, Vukcevic D, Delaneau O, O’Connell J (2018) The UK Biobank resource with deep phenotyping and genomic data. Nature. https://doi.org/10.1038/s41586-018-0579-z

Article  PubMed  PubMed Central  Google Scholar 

Tomlinson I, Webb E, Carvajal-Carmona L, Broderick P, Kemp Z, Spain S, Penegar S, Chandler I, Gorman M, Wood W (2007) A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24. 21. Nat Genet. https://doi.org/10.1038/ng2085

Article  PubMed  Google Scholar 

Palles C, Freeman-Mills L, Arbe-Barnes E, Feeley N, Chegwidden L, Curley H, Galavotti S, Woolley C, Cheadle J, Mouradov D (2025) Comparison between germline and somatic loss-of-function RNF43 mutations reveals different genotype-phenotype associations and provides insights into the genetic mechanisms of colorectal tumourigenesis. Gut. https://doi.org/10.1136/gutjnl-2025-337030

Article  Google Scholar 

Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, De Bakker PI, Daly MJ (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. https://doi.org/10.1086/519795

Article  PubMed  PubMed Central  Google Scholar 

Purcell S PLINK (version 2). https://www.cog-genomics.org/plink/2.0/

Salipante SJ, Scroggins SM, Hampel HL, Turner EH, Pritchard CC (2014) Microsatellite instability detection by next generation sequencing. Clin Chem. https://doi.org/10.1373/clinchem.2014.223677

Article  PubMed  Google Scholar 

Halldorsson BV, Eggertsson HP, Moore KH, Hauswedell H, Eiriksson O, Ulfarsson MO, Palsson G, Hardarson MT, Oddsson A, Jensson BO (2022) The sequences of 150,119 genomes in the UK Biobank. Nature. https://doi.org/10.1038/s41586-022-04965-x

Article  PubMed  PubMed Central  Google Scholar 

100kGP Release v14. https://re-docs.genomicsengland.co.uk/release14/

McLaren W, Gil L, Hunt SE, Riat HS, Ritchie GR, Thormann A, Flicek P, Cunningham F (2016) The ensembl variant effect predictor. Genome Biol. https://doi.org/10.1186/s13059-016-0974-4

Article  PubMed  PubMed Central  Google Scholar 

Cingolani P, Platts A, Wang LL, Coon M, Nguyen T, Wang L, Land SJ, Lu X, Ruden DM (2012) A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly. https://doi.org/10.4161/fly.19695

Cornish AJ, Gruber AJ, Kinnersley B, Chubb D, Frangou A, Caravagna G, Noyvert B, Lakatos E, Wood HM, Thorn S (2024) The genomic landscape of 2023 colorectal cancers. Nature. https://doi.org/10.1038/s41586-024-07747-9

Article  PubMed  PubMed Central  Google Scholar 

Landrum MJ, Lee JM, Benson M, Brown GR, Chao C, Chitipiralla S, Gu B, Hart J, Hoffman D, Jang W (2018) ClinVar: improving access to variant interpretations and supporting evidence. Nucleic Acids Res. https://doi.org/10.1093/nar/gkx1153

Article  PubMed  PubMed Central  Google Scholar 

Ioannidis NM, Rothstein JH, Pejaver V, Middha S, McDonnell SK, Baheti S, Musolf A, Li Q, Holzinger E, Karyadi D (2016) REVEL: an ensemble method for predicting the pathogeni

Comments (0)

No login
gif