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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. Among authors: thomas hj. 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.
Genetic mapping of hereditary mixed polyposis syndrome to chromosome 6q.
Thomas HJ, Whitelaw SC, Cottrell SE, Murday VA, Tomlinson IP, Markie D, Jones T, Bishop DT, Hodgson SV, Sheer D, Northover JM, Talbot IC, Solomon E, Bodmer WF. Thomas HJ, et al. Am J Hum Genet. 1996 Apr;58(4):770-6. Am J Hum Genet. 1996. PMID: 8644741 Free PMC article.
Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas.
Sieber OM, Lamlum H, Crabtree MD, Rowan AJ, Barclay E, Lipton L, Hodgson S, Thomas HJ, Neale K, Phillips RK, Farrington SM, Dunlop MG, Mueller HJ, Bisgaard ML, Bulow S, Fidalgo P, Albuquerque C, Scarano MI, Bodmer W, Tomlinson IP, Heinimann K. Sieber OM, et al. Among authors: thomas hj. Proc Natl Acad Sci U S A. 2002 Mar 5;99(5):2954-8. doi: 10.1073/pnas.042699199. Epub 2002 Feb 26. Proc Natl Acad Sci U S A. 2002. PMID: 11867715 Free PMC article.
Genome-wide allelotyping of 104 Finnish colorectal cancers reveals an excess of allelic imbalance in chromosome 20q in familial cases.
Laiho P, Hienonen T, Karhu A, Lipton L, Aalto Y, Thomas HJ, Birkenkamp-Demtroder K, Hodgson S, Salovaara R, Mecklin JP, Järvinen H, Knuutila S, Halford S, Ørntoft TF, Tomlinson I, Launonen V, Houlston R, Aaltonen LA. Laiho P, et al. Among authors: thomas hj. Oncogene. 2003 Apr 10;22(14):2206-14. doi: 10.1038/sj.onc.1206294. Oncogene. 2003. PMID: 12687022
An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome.
Jaeger EE, Woodford-Richens KL, Lockett M, Rowan AJ, Sawyer EJ, Heinimann K, Rozen P, Murday VA, Whitelaw SC, Ginsberg A, Atkin WS, Lynch HT, Southey MC, Debinski H, Eng C, Bodmer WF, Talbot IC, Hodgson SV, Thomas HJ, Tomlinson IP. Jaeger EE, et al. Among authors: thomas hj. Am J Hum Genet. 2003 May;72(5):1261-7. doi: 10.1086/375144. Epub 2003 Apr 14. Am J Hum Genet. 2003. PMID: 12696020 Free PMC article.
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