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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. Among authors: hodgson sv. 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.
Expression of HIF-1alpha, HIF-2alpha (EPAS1), and their target genes in paraganglioma and pheochromocytoma with VHL and SDH mutations.
Pollard PJ, El-Bahrawy M, Poulsom R, Elia G, Killick P, Kelly G, Hunt T, Jeffery R, Seedhar P, Barwell J, Latif F, Gleeson MJ, Hodgson SV, Stamp GW, Tomlinson IP, Maher ER. Pollard PJ, et al. Among authors: hodgson sv. J Clin Endocrinol Metab. 2006 Nov;91(11):4593-8. doi: 10.1210/jc.2006-0920. Epub 2006 Sep 5. J Clin Endocrinol Metab. 2006. PMID: 16954163
208 results