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Page 1
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.
Palles C, Cazier JB, Howarth KM, Domingo E, Jones AM, Broderick P, Kemp Z, Spain SL, Guarino E, Salguero I, Sherborne A, Chubb D, Carvajal-Carmona LG, Ma Y, Kaur K, Dobbins S, Barclay E, Gorman M, Martin L, Kovac MB, Humphray S; CORGI Consortium; WGS500 Consortium; Lucassen A, Holmes CC, Bentley D, Donnelly P, Taylor J, Petridis C, Roylance R, Sawyer EJ, Kerr DJ, Clark S, Grimes J, Kearsey SE, Thomas HJ, McVean G, Houlston RS, Tomlinson I. Palles C, et al. Nat Genet. 2013 Feb;45(2):136-44. doi: 10.1038/ng.2503. Epub 2012 Dec 23. Nat Genet. 2013. PMID: 23263490 Free PMC article.
DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer.
Church DN, Briggs SE, Palles C, Domingo E, Kearsey SJ, Grimes JM, Gorman M, Martin L, Howarth KM, Hodgson SV; NSECG Collaborators; Kaur K, Taylor J, Tomlinson IP. Church DN, et al. Hum Mol Genet. 2013 Jul 15;22(14):2820-8. doi: 10.1093/hmg/ddt131. Epub 2013 Mar 24. Hum Mol Genet. 2013. PMID: 23528559 Free PMC article.
Prognostic significance of POLE proofreading mutations in endometrial cancer.
Church DN, Stelloo E, Nout RA, Valtcheva N, Depreeuw J, ter Haar N, Noske A, Amant F, Tomlinson IP, Wild PJ, Lambrechts D, Jürgenliemk-Schulz IM, Jobsen JJ, Smit VT, Creutzberg CL, Bosse T. Church DN, et al. J Natl Cancer Inst. 2014 Dec 12;107(1):402. doi: 10.1093/jnci/dju402. Print 2015 Jan. J Natl Cancer Inst. 2014. PMID: 25505230 Free PMC article.
POLE Proofreading Mutations Elicit an Antitumor Immune Response in Endometrial Cancer.
van Gool IC, Eggink FA, Freeman-Mills L, Stelloo E, Marchi E, de Bruyn M, Palles C, Nout RA, de Kroon CD, Osse EM, Klenerman P, Creutzberg CL, Tomlinson IP, Smit VT, Nijman HW, Bosse T, Church DN. van Gool IC, et al. Clin Cancer Res. 2015 Jul 15;21(14):3347-3355. doi: 10.1158/1078-0432.CCR-15-0057. Epub 2015 Apr 15. Clin Cancer Res. 2015. PMID: 25878334 Free PMC article.
Aberrant epithelial GREM1 expression initiates colonic tumorigenesis from cells outside the stem cell niche.
Davis H, Irshad S, Bansal M, Rafferty H, Boitsova T, Bardella C, Jaeger E, Lewis A, Freeman-Mills L, Giner FC, Rodenas-Cuadrado P, Mallappa S, Clark S, Thomas H, Jeffery R, Poulsom R, Rodriguez-Justo M, Novelli M, Chetty R, Silver A, Sansom OJ, Greten FR, Wang LM, East JE, Tomlinson I, Leedham SJ. Davis H, et al. Nat Med. 2015 Jan;21(1):62-70. doi: 10.1038/nm.3750. Epub 2014 Dec 1. Nat Med. 2015. PMID: 25419707 Free PMC article.
Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.
Temko D, Van Gool IC, Rayner E, Glaire M, Makino S, Brown M, Chegwidden L, Palles C, Depreeuw J, Beggs A, Stathopoulou C, Mason J, Baker AM, Williams M, Cerundolo V, Rei M, Taylor JC, Schuh A, Ahmed A, Amant F, Lambrechts D, Smit VT, Bosse T, Graham TA, Church DN, Tomlinson I. Temko D, et al. J Pathol. 2018 Jul;245(3):283-296. doi: 10.1002/path.5081. Epub 2018 Apr 30. J Pathol. 2018. PMID: 29604063 Free PMC article.