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Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus.
Su Z, Gay LJ, Strange A, Palles C, Band G, Whiteman DC, Lescai F, Langford C, Nanji M, Edkins S, van der Winkel A, Levine D, Sasieni P, Bellenguez C, Howarth K, Freeman C, Trudgill N, Tucker AT, Pirinen M, Peppelenbosch MP, van der Laan LJ, Kuipers EJ, Drenth JP, Peters WH, Reynolds JV, Kelleher DP, McManus R, Grabsch H, Prenen H, Bisschops R, Krishnadath K, Siersema PD, van Baal JW, Middleton M, Petty R, Gillies R, Burch N, Bhandari P, Paterson S, Edwards C, Penman I, Vaidya K, Ang Y, Murray I, Patel P, Ye W, Mullins P, Wu AH, Bird NC, Dallal H, Shaheen NJ, Murray LJ, Koss K, Bernstein L, Romero Y, Hardie LJ, Zhang R, Winter H, Corley DA, Panter S, Risch HA, Reid BJ, Sargeant I, Gammon MD, Smart H, Dhar A, McMurtry H, Ali H, Liu G, Casson AG, Chow WH, Rutter M, Tawil A, Morris D, Nwokolo C, Isaacs P, Rodgers C, Ragunath K, MacDonald C, Haigh C, Monk D, Davies G, Wajed S, Johnston D, Gibbons M, Cullen S, Church N, Langley R, Griffin M, Alderson D, Deloukas P, Hunt SE, Gray E, Dronov S, Potter SC, Tashakkori-Ghanbaria A, Anderson M, Brooks C, Blackwell JM, Bramon E, Brown MA, Casas JP, Corvin A, Duncanson A, Markus HS, Mathew CG, Palmer CN, Plomin R, Rautanen A, Sawcer SJ, Trembath… See abstract for full author list ➔ Su Z, et al. Among authors: tomlinson i. Nat Genet. 2012 Oct;44(10):1131-6. doi: 10.1038/ng.2408. Epub 2012 Sep 9. Nat Genet. 2012. PMID: 22961001 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. Nat Genet. 2002 Apr;30(4):406-10. doi: 10.1038/ng849. Epub 2002 Feb 25. Nat Genet. 2002. PMID: 11865300
How many mutations in a cancer?
Tomlinson I, Sasieni P, Bodmer W. Tomlinson I, et al. Am J Pathol. 2002 Mar;160(3):755-8. doi: 10.1016/S0002-9440(10)64896-1. Am J Pathol. 2002. PMID: 11891172 Free PMC article. No abstract available.
An update on the genetics of colorectal cancer.
Kemp Z, Thirlwell C, Sieber O, Silver A, Tomlinson I. Kemp Z, et al. Among authors: tomlinson i. Hum Mol Genet. 2004 Oct 1;13 Spec No 2:R177-85. doi: 10.1093/hmg/ddh247. Hum Mol Genet. 2004. PMID: 15358723 Review.
Combined array-comparative genomic hybridization and single-nucleotide polymorphism-loss of heterozygosity analysis reveals complex changes and multiple forms of chromosomal instability in colorectal cancers.
Gaasenbeek M, Howarth K, Rowan AJ, Gorman PA, Jones A, Chaplin T, Liu Y, Bicknell D, Davison EJ, Fiegler H, Carter NP, Roylance RR, Tomlinson IP. Gaasenbeek M, et al. Cancer Res. 2006 Apr 1;66(7):3471-9. doi: 10.1158/0008-5472.CAN-05-3285. Cancer Res. 2006. PMID: 16585170
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: tomlinson i. 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
Search for low penetrance alleles for colorectal cancer through a scan of 1467 non-synonymous SNPs in 2575 cases and 2707 controls with validation by kin-cohort analysis of 14 704 first-degree relatives.
Webb EL, Rudd MF, Sellick GS, El Galta R, Bethke L, Wood W, Fletcher O, Penegar S, Withey L, Qureshi M, Johnson N, Tomlinson I, Gray R, Peto J, Houlston RS. Webb EL, et al. Among authors: tomlinson i. Hum Mol Genet. 2006 Nov 1;15(21):3263-71. doi: 10.1093/hmg/ddl401. Epub 2006 Sep 25. Hum Mol Genet. 2006. PMID: 17000706
788 results