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103 results

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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.
Evidence of linkage to chromosome 9q22.33 in colorectal cancer kindreds from the United Kingdom.
Kemp ZE, Carvajal-Carmona LG, Barclay E, Gorman M, Martin L, Wood W, Rowan A, Donohue C, Spain S, Jaeger E, Evans DG, Maher ER, Bishop T, Thomas H, Houlston R, Tomlinson I; Colorectal Tumour Gene Identification Study Consortium. Kemp ZE, et al. Cancer Res. 2006 May 15;66(10):5003-6. doi: 10.1158/0008-5472.CAN-05-4074. Cancer Res. 2006. PMID: 16707420
Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations.
Carvajal-Carmona LG, Alam NA, Pollard PJ, Jones AM, Barclay E, Wortham N, Pignatelli M, Freeman A, Pomplun S, Ellis I, Poulsom R, El-Bahrawy MA, Berney DM, Tomlinson IP. Carvajal-Carmona LG, et al. J Clin Endocrinol Metab. 2006 Aug;91(8):3071-5. doi: 10.1210/jc.2006-0183. Epub 2006 Jun 6. J Clin Endocrinol Metab. 2006. PMID: 16757530
Evidence for a colorectal cancer susceptibility locus on chromosome 3q21-q24 from a high-density SNP genome-wide linkage scan.
Kemp Z, Carvajal-Carmona L, Spain S, Barclay E, Gorman M, Martin L, Jaeger E, Brooks N, Bishop DT, Thomas H, Tomlinson I, Papaemmanuil E, Webb E, Sellick GS, Wood W, Evans G, Lucassen A, Maher ER, Houlston RS; ColoRectal tumour Gene Identification (CoRGI) Study Consortium. Kemp Z, et al. Hum Mol Genet. 2006 Oct 1;15(19):2903-10. doi: 10.1093/hmg/ddl231. Epub 2006 Aug 21. Hum Mol Genet. 2006. PMID: 16923799
Molecular classification and genetic pathways in hyperplastic polyposis syndrome.
Carvajal-Carmona LG, Howarth KM, Lockett M, Polanco-Echeverry GM, Volikos E, Gorman M, Barclay E, Martin L, Jones AM, Saunders B, Guenther T, Donaldson A, Paterson J, Frayling I, Novelli MR, Phillips R, Thomas HJ, Silver A, Atkin W, Tomlinson IP. Carvajal-Carmona LG, et al. J Pathol. 2007 Aug;212(4):378-85. doi: 10.1002/path.2187. J Pathol. 2007. PMID: 17503413
A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21.
Tomlinson I, Webb E, Carvajal-Carmona L, Broderick P, Kemp Z, Spain S, Penegar S, Chandler I, Gorman M, Wood W, Barclay E, Lubbe S, Martin L, Sellick G, Jaeger E, Hubner R, Wild R, Rowan A, Fielding S, Howarth K; CORGI Consortium; Silver A, Atkin W, Muir K, Logan R, Kerr D, Johnstone E, Sieber O, Gray R, Thomas H, Peto J, Cazier JB, Houlston R. Tomlinson I, et al. Nat Genet. 2007 Aug;39(8):984-8. doi: 10.1038/ng2085. Epub 2007 Jul 8. Nat Genet. 2007. PMID: 17618284
A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk.
Broderick P, Carvajal-Carmona L, Pittman AM, Webb E, Howarth K, Rowan A, Lubbe S, Spain S, Sullivan K, Fielding S, Jaeger E, Vijayakrishnan J, Kemp Z, Gorman M, Chandler I, Papaemmanuil E, Penegar S, Wood W, Sellick G, Qureshi M, Teixeira A, Domingo E, Barclay E, Martin L, Sieber O; CORGI Consortium; Kerr D, Gray R, Peto J, Cazier JB, Tomlinson I, Houlston RS. Broderick P, et al. Nat Genet. 2007 Nov;39(11):1315-7. doi: 10.1038/ng.2007.18. Epub 2007 Oct 14. Nat Genet. 2007. PMID: 17934461
103 results