New gene variant in colorectal cancer diagnosis: insight from a large series of patients

Bray F, Laversanne M, Sung H, Ferlay J, Siegel RL, Soerjomataram I, Jemal A (2024) Global cancer statistics 2022: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA: A Cancer. J Clin 74:229–263. https://doi.org/10.3322/caac.21834

Article  Google Scholar 

Kerber RA, Neklason DW, Samowitz WS, Burt RW (2005) Frequency of familial colon cancer and hereditary nonpolyposis colorectal cancer (Lynch syndrome) in a large population database. Fam Cancer 4:239–244. https://doi.org/10.1007/s10689-005-0657-x

Article  PubMed  Google Scholar 

Schubert SA, Morreau H, de Miranda NFCC, van Wezel T (2020) The missing heritability of familial colorectal cancer. Mutagenesis 35:221–231. https://doi.org/10.1093/mutage/gez027

Article  CAS  PubMed  Google Scholar 

Nejadtaghi M, Jafari H, Farrokhi E, Samani KG (2017) Familial colorectal Cancer type X (FCCTX) and the correlation with various genes—A systematic review. Curr Probl Cancer 41:388–397. https://doi.org/10.1016/j.currproblcancer.2017.10.002

Article  PubMed  Google Scholar 

Dhooge M, Baert-Desurmont S, Corsini C, Caron O, Andrieu N, Berthet P, Bonadona V, Cohen-Haguenauer O, De Pauw A, Delnatte C, Dussart S, Lasset C, Leroux D, Maugard C, Moretta-Serra J, Popovici C, Buecher B, Colas C, Noguès C, GGC-Unicancer Group (2020) National recommendations of the French Genetics and Cancer Group - Unicancer on the modalities of multi-genes panel analyses in hereditary predispositions to tumors of the digestive tract. Eur J Med Genet 63:104080. https://doi.org/10.1016/j.ejmg.2020.104080

Article  PubMed  Google Scholar 

Bhar S, Zhou F, Reineke LC, Morris DK, Khincha PP, Giri N, Mirabello L, Bergstrom K, Lemon LD, Williams CL, Toh Y, Elghetany MT, Lloyd RE, Alter BP, Savage SA, Bertuch AA (2020) Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia. Hum Mutat 41:1918–1930. https://doi.org/10.1002/humu.24092

Article  CAS  PubMed  Google Scholar 

Tian Y, Babaylova ES, Gopanenko AV, Tupikin AE, Kabilov MR, Malygin AA (2024) Deficiency of the ribosomal protein uS10 (RPS20) reorganizes human cells translatome according to the abundance, CDS length and GC content of mRNAs. Open Biology 14:230366. https://doi.org/10.1098/rsob.230366

Article  CAS  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 8:e68667. https://doi.org/10.1371/journal.pone.0068667

Article  CAS  PubMed  PubMed Central  Google Scholar 

Colas C, Bonadona V, Baert-Desurmont S, Bonnet D, Coulet F, Dhooge M, Saurin J-C, Remenieras A, Bignon Y-J, Caron O, De Pauw A, Buisine M-P, Buecher B (2020) MUTYH-associated polyposis: review and update of the French recommendations established in 2012 under the auspices of the National Cancer institute (INCa). Eur J Med Genet 63:104078. https://doi.org/10.1016/j.ejmg.2020.104078

Article  PubMed  Google Scholar 

Baert-Desurmont S, Coutant S, Charbonnier F, Macquere P, Lecoquierre F, Schwartz M, Blanluet M, Vezain M, Lanos R, Quenez O, Bou J, Bouvignies E, Fourneaux S, Manase S, Vasseur S, Mauillon J, Gerard M, Marlin R, Bougeard G, Tinat J, Frebourg T, Tournier I (2018) Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes. Eur J Hum Genet 26:1597–1602. https://doi.org/10.1038/s41431-018-0207-2

Article  CAS  PubMed  PubMed Central  Google Scholar 

Scott P, Anderson K, Singhania M, Cormier R (2020) Cystic fibrosis, CFTR, and Colorectal Cancer. Int J Mol Sci 21:2891. https://doi.org/10.3390/ijms21082891

Article  CAS  PubMed  PubMed Central  Google Scholar 

De Bortoli M, Castellino RC, Lu X-Y, Deyo J, Sturla LM, Adesina AM, Perlaky L, Pomeroy SL, Lau CC, Man T-K, Rao PH, Kim JY (2006) Medulloblastoma outcome is adversely associated with overexpression of EEF1D, RPL30, and RPS20 on the long arm of chromosome 8. BMC Cancer 6:223. https://doi.org/10.1186/1471-2407-6-223

Article  CAS  PubMed  PubMed Central  Google Scholar 

Yong WH, Shabihkhani M, Telesca D, Yang S, Tso JL, Menjivar JC, Wei B, Lucey GM, Mareninov S, Chen Z, Liau LM, Lai A, Nelson SF, Cloughesy TF, Tso C-L (2015) Ribosomal proteins RPS11 and RPS20, two stress-response markers of Glioblastoma Stem Cells, are novel predictors of poor prognosis in Glioblastoma patients. PLoS ONE 10:e0141334. https://doi.org/10.1371/journal.pone.0141334

Article  CAS  PubMed  PubMed Central  Google Scholar 

Shen C, Chen Z, Zhang Y, Xu W, Peng R, Jiang J, Zuo W, Fan Y, Zheng B (2023) Biochemical and clinical effects of RPS20 expression in renal clear cell carcinoma. Oncol Rep 49:22. https://doi.org/10.3892/or.2022.8459

Article  CAS  PubMed  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, Järvinen HJ, Gleizes P-E, Peltomäki P (2014) Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to Hereditary Nonpolyposis Colorectal Carcinoma without DNA Mismatch Repair Deficiency. Gastroenterology 147:595–598e5. https://doi.org/10.1053/j.gastro.2014.06.009

Article  CAS  PubMed  Google Scholar 

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 152:75–77e4. https://doi.org/10.1053/j.gastro.2016.09.041

Article  CAS  PubMed  Google Scholar 

Thompson BA, Snow AK, Koptiuch C, Kohlmann WK, Mooney R, Johnson S, Huff CD, Yu Y, Teerlink CC, Feng B-J, 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 97:943–944. https://doi.org/10.1111/cge.13757

Article  CAS  PubMed  Google Scholar 

Djursby M, Madsen MB, Frederiksen JH, Berchtold LA, Therkildsen C, Willemoe GL, Hasselby JP, Wikman F, Okkels H, Skytte A-B, Nilbert M, Wadt K, Gerdes A-M, van Overeem Hansen T (2020) New pathogenic germline variants in very early onset and familial colorectal Cancer patients. Front Genet 11:566266. https://doi.org/10.3389/fgene.2020.566266

Article  CAS  PubMed  PubMed Central  Google Scholar 

Makarova M, Nemtsova M, Danishevich A, Chernevskiy D, Belenikin M, Krinitsina A, Baranova E, Sagaydak O, Vorontsova M, Khatkov I, Zhukova L, Bodunova N, Nikolaev S, Byakhova M, Semenova A, Galkin V, Gadzhieva S (2023) The CFTR Gene Germline Heterozygous Pathogenic Variants in Russian patients with malignant neoplasms and healthy carriers: 11,800 WGS results. Int J Mol Sci 24:7940. https://doi.org/10.3390/ijms24097940

Article  CAS  PubMed  PubMed Central  Google Scholar 

Miller AC, Comellas AP, Hornick DB, Stoltz DA, Cavanaugh JE, Gerke AK, Welsh MJ, Zabner J, Polgreen PM (2020) Cystic fibrosis carriers are at increased risk for a wide range of cystic fibrosis-related conditions. Proc Natl Acad Sci U S A 117:1621–1627. https://doi.org/10.1073/pnas.1914912117

Article  CAS  PubMed  Google Scholar 

Johannesson M, Askling J, Montgomery SM, Ekbom A, Bahmanyar S (2009) Cancer risk among patients with cystic fibrosis and their first-degree relatives. Int J Cancer 125:2953–2956. https://doi.org/10.1002/ijc.24679

Article  CAS  PubMed  Google Scholar 

Comments (0)

No login
gif