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Page 1
Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer.
Pittman AM, Webb E, Carvajal-Carmona L, Howarth K, Di Bernardo MC, Broderick P, Spain S, Walther A, Price A, Sullivan K, Twiss P, Fielding S, Rowan A, Jaeger E, Vijayakrishnan J, Chandler I, Penegar S, Qureshi M, Lubbe S, Domingo E, Kemp Z, Barclay E, Wood W, Martin L, Gorman M, Thomas H, Peto J, Bishop T, Gray R, Maher ER, Lucassen A, Kerr D, Evans GR; CORGI Consortium; van Wezel T, Morreau H, Wijnen JT, Hopper JL, Southey MC, Giles GG, Severi G, Castellví-Bel S, Ruiz-Ponte C, Carracedo A, Castells A; EPICOLON Consortium; Försti A, Hemminki K, Vodicka P, Naccarati A, Lipton L, Ho JW, Cheng KK, Sham PC, Luk J, Agúndez JA, Ladero JM, de la Hoya M, Caldés T, Niittymäki I, Tuupanen S, Karhu A, Aaltonen LA, Cazier JB, Tomlinson IP, Houlston RS. Pittman AM, et al. Among authors: jaeger e. Hum Mol Genet. 2008 Dec 1;17(23):3720-7. doi: 10.1093/hmg/ddn267. Epub 2008 Aug 27. Hum Mol Genet. 2008. PMID: 18753146
Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q.
Lamlum H, Al Tassan N, Jaeger E, Frayling I, Sieber O, Reza FB, Eckert M, Rowan A, Barclay E, Atkin W, Williams C, Gilbert J, Cheadle J, Bell J, Houlston R, Bodmer W, Sampson J, Tomlinson I. Lamlum H, et al. Among authors: jaeger e. Hum Mol Genet. 2000 Sep 22;9(15):2215-21. doi: 10.1093/oxfordjournals.hmg.a018912. Hum Mol Genet. 2000. PMID: 11001924
Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43.
Alam NA, Bevan S, Churchman M, Barclay E, Barker K, Jaeger EE, Nelson HM, Healy E, Pembroke AC, Friedmann PS, Dalziel K, Calonje E, Anderson J, August PJ, Davies MG, Felix R, Munro CS, Murdoch M, Rendall J, Kennedy S, Leigh IM, Kelsell DP, Tomlinson IP, Houlston RS. Alam NA, et al. Among authors: jaeger ee. Am J Hum Genet. 2001 May;68(5):1264-9. doi: 10.1086/320124. Epub 2001 Mar 14. Am J Hum Genet. 2001. PMID: 11283798 Free PMC article.
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.
Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D, Leigh I, Gorman P, Lamlum H, Rahman S, Roylance RR, Olpin S, Bevan S, Barker K, Hearle N, Houlston RS, Kiuru M, Lehtonen R, Karhu A, Vilkki S, Laiho P, Eklund C, Vierimaa O, Aittomäki K, Hietala M, Sistonen P, Paetau A, Salovaara R, Herva R, Launonen V, Aaltonen LA; Multiple Leiomyoma Consortium. Tomlinson IP, et al. Among authors: jaeger ee. Nat Genet. 2002 Apr;30(4):406-10. doi: 10.1038/ng849. Epub 2002 Feb 25. Nat Genet. 2002. PMID: 11865300
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. 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.
Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation.
Sieber OM, Segditsas S, Knudsen AL, Zhang J, Luz J, Rowan AJ, Spain SL, Thirlwell C, Howarth KM, Jaeger EE, Robinson J, Volikos E, Silver A, Kelly G, Aretz S, Frayling I, Hutter P, Dunlop M, Guenther T, Neale K, Phillips R, Heinimann K, Tomlinson IP. Sieber OM, et al. Among authors: jaeger ee. Gut. 2006 Oct;55(10):1440-8. doi: 10.1136/gut.2005.087106. Epub 2006 Feb 4. Gut. 2006. PMID: 16461775 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. Among authors: jaeger e. Cancer Res. 2006 May 15;66(10):5003-6. doi: 10.1158/0008-5472.CAN-05-4074. Cancer Res. 2006. PMID: 16707420
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. Among authors: jaeger e. 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
295 results