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Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas - PubMed

  • Clinical actionability enhanced through deep targeted sequencing of solid tumors.

    Chen K, Meric-Bernstam F, Zhao H, Zhang Q, Ezzeddine N, Tang LY, Qi Y, Mao Y, Chen T, Chong Z, Zhou W, Zheng X, Johnson A, Aldape KD, Routbort MJ, Luthra R, Kopetz S, Davies MA, de Groot J, Moulder S, Vinod R, Farhangfar CJ, Shaw KM, Mendelsohn J, Mills GB, Eterovic AK. Chen K, et al. Clin Chem. 2015 Mar;61(3):544-53. doi: 10.1373/clinchem.2014.231100. Epub 2015 Jan 27. Clin Chem. 2015. PMID: 25626406 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.

  • Replicative DNA polymerase δ but not ε proofreads errors in Cis and in Trans.

    Flood CL, Rodriguez GP, Bao G, Shockley AH, Kow YW, Crouse GF. Flood CL, et al. PLoS Genet. 2015 Mar 5;11(3):e1005049. doi: 10.1371/journal.pgen.1005049. eCollection 2015 Mar. PLoS Genet. 2015. PMID: 25742645 Free PMC article.

  • Identifying Novel Susceptibility Genes for Colorectal Cancer Risk From a Transcriptome-Wide Association Study of 125,478 Subjects.

    Guo X, Lin W, Wen W, Huyghe J, Bien S, Cai Q, Harrison T, Chen Z, Qu C, Bao J, Long J, Yuan Y, Wang F, Bai M, Abecasis GR, Albanes D, Berndt SI, Bézieau S, Bishop DT, Brenner H, Buch S, Burnett-Hartman A, Campbell PT, Castellví-Bel S, Chan AT, Chang-Claude J, Chanock SJ, Cho SH, Conti DV, Chapelle A, Feskens EJM, Gallinger SJ, Giles GG, Goodman PJ, Gsur A, Guinter M, Gunter MJ, Hampe J, Hampel H, Hayes RB, Hoffmeister M, Kampman E, Kang HM, Keku TO, Kim HR, Le Marchand L, Lee SC, Li CI, Li L, Lindblom A, Lindor N, Milne RL, Moreno V, Murphy N, Newcomb PA, Nickerson DA, Offit K, Pearlman R, Pharoah PDP, Platz EA, Potter JD, Rennert G, Sakoda LC, Schafmayer C, Schmit SL, Schoen RE, Schumacher FR, Slattery ML, Su YR, Tangen CM, Ulrich CM, van Duijnhoven FJB, Van Guelpen B, Visvanathan K, Vodicka P, Vodickova L, Vymetalkova V, Wang X, White E, Wolk A, Woods MO, Casey G, Hsu L, Jenkins MA, Gruber SB, Peters U, Zheng W. Guo X, et al. Gastroenterology. 2021 Mar;160(4):1164-1178.e6. doi: 10.1053/j.gastro.2020.08.062. Epub 2020 Oct 12. Gastroenterology. 2021. PMID: 33058866 Free PMC article.

  • Germline mutation rates and the long-term phenotypic effects of mutation accumulation in wild-type laboratory mice and mutator mice.

    Uchimura A, Higuchi M, Minakuchi Y, Ohno M, Toyoda A, Fujiyama A, Miura I, Wakana S, Nishino J, Yagi T. Uchimura A, et al. Genome Res. 2015 Aug;25(8):1125-34. doi: 10.1101/gr.186148.114. Epub 2015 Jun 30. Genome Res. 2015. PMID: 26129709 Free PMC article.