Selected Publications

Sieber OM, Lipton L, Crabtree M, Heinimann K, Fidalgo P, Phillips RKS, Bisgaard M-L, Orntoft T, Aaltonen LA, Hodgson SV, Thomas HJW and Tomlinson IPM. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med 2003; 248: 791-799. PubMed

Pollard PJ, Brière JJ, Alam J, Barwell J, Barclay E, Wortham NC, Hunt T, Mitchell M, Olpin S, Moat SJ, Hargreaves IP, Heales SJ, Chung YL, Griffiths JR, Dalgleish A, McGrath JA, Gleeson MJ, Hodgson SV, Poulsom R, Rustin P and Tomlinson IPM. Accumulation of Krebs cycle intermediates and over-expression of HIF1α in tumours which result from germline FH and SDH mutations. Hum Mol Genet 2005; 14: 2231-2239. PubMed

Gaasenbeek M, Howarth K, Rowan AJ, Gorman PA, Jones A, Chaplin T, Liu Y, Bicknell D, Davison EJ, Fiegler H, Carter NP, Roylance RR and Tomlinson IPM. 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. Cancer Res 2006; 66: 3471-3479. PubMed

Primary Research Publications

2008

Ahvenainen T, Lehtonen HJ, Lehtonen R, Vahteristo P, Aittomäki K, Baynam G, Dommering C, Eng C, Gruber SB, Grönberg H, Harvima R, Herva R, Hietala M, Kujala M, Kääriäinen H, Sunde L,Vierimaa O, Pollard PJ,Tomlinson IP, Björck E,Aaltonen LA, Launonen V. Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer. Cancer Genet Cytogenet 2008;183(2):83-8

Alhopuro P, Phichith D,Tuupanen S, Sammalkorpi H, Nybondas M, Saharinen J, Robinson JP, Yang Z, Chen LQ, Orntoft T, Mecklin JP, Järvinen H, Eng C, Moeslein G, Shibata D, Houlston RS, Lucassen A,Tomlinson IP, Launonen V, Ristimäki A, Arango D, Karhu A, Sweeney HL, Aaltonen LA. Unregulated smooth-muscle myosin in human intestinal neoplasia. Proc Natl Acad Sci U S A2008;105(14):5513-8

Bayley JP, Launonen V,Tomlinson IP. The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency. BMC Med Genet 2008;9:20

El-Bahrawy MA, Rowan A, Horncastle D, Tomlinson I, Theis BA, Russell RC, Stamp G. E-cadherin/catenin complex status in solid pseudopapillary tumor of the pancreas. Am J Surg Pathol 2008;32(1):1-7

Graham T, Halford S, Page KM,Tomlinson IP. Most low-level microsatellite instability in colorectal cancers can be explained without an elevated slippage rate. J Pathol 2008;215(2):204-10

Hornsby C, Page KM, Tomlinson I. The in vivo rate of somatic adenomatous polyposis coli mutation. Am J Pathol 2008; 172(4):1062-1068

Jaeger E, Webb E, Howarth K, Carvajal-Carmona L, Rowan A, Broderick P, Walther A, Spain S, Pittman A, Kemp Z, Sullivan K, Heinimann K, Lubbe S, Domingo E, Barclay E, Martin L, Gorman M, Chandler I, Vijayakrishnan J, Wood W, Papaemmanuil E, Penegar S, Qureshi M;CORGI Consortium, Farrington S,Tenesa A, Cazier JB, Kerr D, Gray R, Peto J, Dunlop M, Campbell H,Thomas H, Houlston R, Tomlinson I. Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk. Nat Genet 2008;40(1):26-8

Jones A, Mitter R, Poulsom R, Gillett C, Hanby A, Consortium PT,Tomlinson I, Sawyer E. mRNA expression profiling of phyllodes tumours of the breast: identification of genes important in the development of borderline and malignant phyllodes tumours. J Pathol 2008;216(4):408-17

Jones AM, Mitter R, Springall R, Graham T, Winter E, Gillett C, Hanby AM, Tomlinson IP, Sawyer EJ; Phyllodes Tumour Consortium. A comprehensive genetic profile of phyllodes tumours of the breast detects important mutations, intratumoral genetic heterogeneity and new genetic changes on recurrence. J Pathol 2008;214(5):533-44

Jorissen RN, Lipton L, Gibbs P, Chapman M, Desai J, Jones IT, Yeatman TJ, East P, Tomlinson IP, Verspaget HW, Aaltonen LA, Kruhøffer M, Orntoft TF, Andersen CL, Sieber OM. DNA Copy-Number Alterations Underlie Gene Expression Differences between Microsatellite Stable and Unstable Colorectal Cancers. Clin Cancer Res 2008;14(24):8061-9

Harvey J, Clark S, Hyer W, Hadzic N,Tomlinson I, Hinds R. Germline APC mutations are not commonly seen in children with sporadic hepatoblastoma. J Pediatr Gastroenterol Nutr 2008;47(5):675-7

Hornsby C, Page KM,Tomlinson I. The in vivo rate of somatic adenomatous polyposis coli mutation. Am J Pathol 2008;172(4):1062-8

Houlston RS,Webb E, Broderick P, Pittman AM, Di Bernardo MC, Lubbe S, Chandler I, Vijayakrishnan J, Sullivan K, Penegar S;Colorectal Cancer Association Study Consortium, Carvajal-Carmona L, Howarth K, Jaeger E, Spain SL, Walther A, Barclay E, Martin L, Gorman M, Domingo E,Teixeira AS;CoRGI Consortium, Kerr D, Cazier JB, Niittymäki I, Tuupanen S, Karhu A, Aaltonen LA, Tomlinson IP, Farrington SM, Tenesa A, Prendergast JG, Barnetson RA, Cetnarskyj R, Porteous ME, Pharoah PD, Koessler T, Hampe J, Buch S, Schafmayer C, Tepel J, Schreiber S, Völzke H, Chang Claude J, Hoffmeister M, Brenner H, Zanke BW, Montpetit A, Hudson TJ, Gallinger S; International Colorectal Cancer Genetic Association Consortium, Campbell H, Dunlop MG. Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. Nat Genet 2008;40(12):1426-35

McInerney N, Colleran G, Rowan A,Walther A, Barclay E, Spain S, Jones AM, Tuohy S, Curran C, Miller N, Kerin M, Tomlinson I, Sawyer E. Low penetrance breast cancer predisposition SNPs are site specific. Breast Cancer Res Treat 2008;doi:10.1007/s10549-008-0235-7

Milicic A, Harrison LA, Goodlad RA, Hardy RG, Nicholson AM, Presz M, Sieber O, Santander S, Pringle JH, Mandir N, East P, Obszynska J, Sanders S, Piazuelo E, Shaw J, Harrison R,Tomlinson IP, McDonald SA,Wright NA, Jankowski JA. Ectopic expression of P-cadherin correlates with promoter hypomethylation early in colorectal carcinogenesis and enhanced intestinal crypt fission in vivo. Cancer Res 2008;68(19):7760-8

Papaemmanuil E, Carvajal-Carmona L, Sellick GS, Kemp Z, Webb E, Spain S, Sullivan K, Barclay E, Lubbe S, Jaeger E, Vijayakrishnan J, Broderick P, Gorman M, Martin L, Lucassen A, Bishop DT, Evans DG, Maher ER, Steinke V, Rahner N, Schackert HK, Goecke TO, Holinski-Feder E, Propping P, Van Wezel T, Wijnen J, Cazier JB, Thomas H, Houlston RS, Tomlinson I. Deciphering the genetics of hereditary non-syndromic colorectal cancer. Eur J Hum Genet 2008;16(12):1477-86

Pittman AM, Broderick P, Sullivan K, Fielding S,Webb E, Penegar S,Tomlinson I, Houlston RS. CASP8 variants D302H and -652 6N ins/del do not influence the risk of colorectal cancer in the United Kingdom population. Br J Cancer 2008;98(8):1434-6

Pittman AM,Webb E, Carvajal-Carmona L, Howarth K, Di- Bernardo M, 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;The CORGI Consortium, van Wezel T, Morreau H, Wijnen JT, Hopper JL, Southey MC, Giles GG, Severi G, CastellvíÌ-Bel S, Ruiz-Ponte C, Carracedo A, Castells A;The 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 L, Cazier JB, Tomlinson IP, Houlston RS. Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer. Hum Mol Genet 2008;17(23):3720-7

Segditsas S, Rowan AJ, Howarth K, Jones A, Leedham S, Wright NA, Gorman P, Chambers W, Domingo E, Roylance RR, Sawyer EJ, Sieber OM, Tomlinson IP. APC and the three-hit hypothesis. Oncogene 2008; doi:10.1038/onc.2008.361

Segditsas S, Sieber O, Deheragoda M, East P, Rowan A, Jeffery R, Nye E, Clark S, Spencer-Dene B, Stamp G, Poulsom R, Suraweera N, Silver A, Ilyas M, Tomlinson I. Putative direct and indirect Wnt targets identified through consistent gene expression changes in APC-mutant intestinal adenomas from humans and mice. Hum Mol Genet 2008;17(24):3864-75

Segditsas S, Sieber OM, Rowan A, Setien F, Neale K, Phillips RK,Ward R, Esteller M, Tomlinson IP. Promoter hypermethylation leads to decreased APC mRNA expression in familial polyposis and sporadic colorectal tumours, but does not substitute for truncating mutations. Exp Mol Pathol 2008;85(3):201-6

Tenesa A, Farrington SM, Prendergast JG, Porteous ME, Walker M, Haq N, Barnetson RA, Theodoratou E, Cetnarskyj R, Cartwright N, Semple C, Clark AJ, Reid FJ, Smith LA, Kavoussanakis K, Koessler T, Pharoah PD, Buch S, Schafmayer C,Tepel J, Schreiber S, Völzke H, Schmidt CO, Hampe J, Chang-Claude J, Hoffmeister M, Brenner H, Wilkening S, Canzian F, Capella G, Moreno V, Deary IJ, Starr JM, Tomlinson IP, Kemp Z, Howarth K, Carvajal-Carmona L, Webb E, Broderick P, Vijayakrishnan J, Houlston RS, Rennert G, Ballinger D, Rozek L, Gruber SB, Matsuda K, Kidokoro T, Nakamura Y, Zanke BW, Greenwood CM, Rangrej J, Kustra R, Montpetit A, Hudson TJ, Gallinger S, Campbell H, Dunlop MG. Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. Nat Genet 2008;40(5):631-7

Tomlinson IP,Webb E, Carvajal-Carmona L, Broderick P, Howarth K, Pittman AM, Spain S, Lubbe S,Walther A, Sullivan K, Jaeger E, Fielding S, Rowan A, Vijayakrishnan J, Domingo E, Chandler I, Kemp Z, Qureshi M, Farrington SM, Tenesa A, Prendergast JG, Barnetson RA, Penegar S, Barclay E, Wood W, Martin L, Gorman M, Thomas H, Peto J, Bishop DT, Gray R, Maher ER, Lucassen A, Kerr D, Evans DG; CORGI Consortium, Schafmayer C, Buch S,Völzke H, Hampe J, Schreiber S, John U, Koessler T, Pharoah P, 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 L, Cazier JB, Campbell H, Dunlop MG, Houlston RS. A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nat Genet 2008;40(5)623-30

Vickaryous N, Polanco-Echeverry G, Morrow S, Suraweera N, Thomas H, Tomlinson I, Silver A. Smooth-muscle myosin mutations in hereditary non-polyposis colorectal cancer syndrome. Br J Cancer 2008;99(10):1726-8

Webb E, Broderick P, Chandler I, Lubbe S, Penegar S, Tomlinson IP, Houlston RS. Comprehensive analysis of common mitochondrial DNA variants and colorectal cancer risk. Br J Cancer 2008;99(12):2088-93

Wijnen JT, Brohet RM, van Eijk R, Jagmohan-Changur S, Middeldorp A,Tops CM, van Puijenbroek M, Ausems MG, García EG, Hes FJ, Hoogerbrugge N, Menko FH, Os TA, Sijmons RH, Verhoef S,Wagner A, Nagengast FM, Kleibeuker JH, Devilee P, Morreau H, Goldgar D,Tomlinson IP, Houlston RS, van Wezel T, Vasen HF. Chromosome 8q23.3 and 11q23.1 Variants Modify Colorectal Cancer Risk in Lynch Syndrome. Gastroenterology 2008: 136(1):131-137

Will OC, Robinson J, Günther T, Phillips RK, Clark SK, Tomlinson I. APC mutation spectrum in ileoanal pouch polyps resembles that of colorectal polyps. Br J Surg 2008;95(6):765-9

Wordsworth S, Buchanan J, Papanicolas I, Taylor J, Frayling I, Tomlinson I. Molecular testing for somatic mutations in common cancers: the views of UK oncologists. J Clin Pathol 2008;61(6):761-5

Wordsworth S, Papanicolas I, Buchanan J, Frayling I, Taylor J, Tomlinson I. Molecular testing for somatic cancer mutations: a survey of current and future testing in UK laboratories. J Clin Pathol 2008;61(3):373-6

2007

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, Kerr D, Gray R, Peto J, Cazier JB, Tomlinson I, Houlston RS. A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk. Nat Genet 2007; 39(11):1315-1317

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 HJW, Silver A, Atkin W, Tomlinson IPM. Molecular classification and genetic pathways in hyperplastic polyposis syndrome. J Pathol 2007; 212(4):378-385

Chow E, Lipton L, Carvajal-Carmona LG, Arthur G, Bhathal P, Kaur G, Jaeger E, Woodford-Richens K, Howarth K, Tomlinson I, Macrae F. A family with juvenile polyposis linked to the BMPR1A locus: Cryptic mutation or closely linked gene? J Gastroenterol Hepatol 2007; 22(12):2292-2297

De Bernardis F, Liu HQ, O'Mahony R, La Valle R, Bartollino S, Sandini S, Grant S, Brewis N, Tomlinson I, Basset RC, Holton J, Roitt IM, Cassone A. Human domain antibodies against virulence traits of Candida albicans inhibit fungus adherence to vaginal epithelium and protect against experimental vaginal candidiasis. J Infect Dis 2007; 195(1):149-157

d'Onofrio A, Tomlinson IPM. A nonlinear mathematical model of cell turnover, differentiation and tumorigenesis in the intestinal crypt. J Theor Biol 2007; 244(3):367-374

Hornsby C, Page KM, Tomlinson IPM. What can we learn from the population incidence of cancer? Armitage and Doll revisited. Lancet Oncol 2007; 8(11):1030-1038

Jones AM, Thirlwell C, Howarth KM, Graham T, Chambers W, Segditsas S, Page KM, Phillips RKS, Thomas HJW, Sieber OM, Sawyer EJ, Tomlinson IPM. Analysis of copy number changes suggests chromosomal instability in a minority of large colorectal adenomas. J Pathol 2007; 213(3):249-256

Latchford A, Volikos E, Johnson V, Rogers P, Suraweera N, Tomlinson I, Phillips R, Silver A. APC mutations in FAP-associated desmoid tumours are non-random but not 'just right'. Hum Mol Genet 2007; 16(1):78-82

Pollard PJ, Spencer-Dene B, Shukla D, Howarth K, Nye E, El-Bahrawy M, Deheragoda M, Joannou M, McDonald S, Martin A, Igarashi P, Varsani-Brown S, Rosewell I, Poulsom R, Maxwell P, Stamp GW, Tomlinson IPM. Targeted inactivation of Fh1 causes proliferative renal cyst development and activation of the hypoxia pathway. Cancer Cell 2007; 11(4):311-319

Suraweera N, Latchford A, McCart A, Rogers P, Spain S, Sieber O, Phillips R, Tomlinson I, Silver A. Pregnancy does not influence colonic polyp multiplicity but may modulate upper gastrointestinal disease in patients with FAP. J Med Genet 2007; 44(8):541-544

Thirlwell C, Howarth KM, Segditsas S, Guerra G, Thomas HJW, Phillips RKS, Talbot IC, Gorman M, Novelli MR, Sieber OM, Tomlinson I. Investigation of pathogenic mechanisms in multiple colorectal adenoma patients without germline APC or MYH/MUTYH mutations. Br J Cancer 2007; 96(11):1729-1734

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, Silver A, Atkin W, Muir K, Logan R, Kerr D, Johnstone E, Sieber O, Gray R, Thomas H, Peto J, Cazier B, Houlston R, CORGI Consortium. A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21. Nat Genet 2007; 39(8):984-988

Vanharanta S, Wortham NC, Langford C, El-Bahrawy M, van der Spuy Z, Sjoberg J, Lebtonen R, Karhu A, Tomlinson IPM, Aaltonen LA. Definition of a minimal region of deletion of chromosome 7 in uterine leiomyomas by tiling-path microarray CGH and mutation analysis of known genes in this region. Genes Chromosomes Cancer 2007; 46(5):451-458

Will O, Carvajal-Carmona LG, Gorman P, Howarth KM, Jones AM, Polanco-Echeverry GM, Chinaleong JA, Gunther T, Silver A, Clark SK, Tomlinson I. Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer. Gastroenterology 2007; 132: 527-530.

2006

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 IPM. Adult Leydig cell tumors of the testis caused by germline fumarate hydratase mutations. J Clin Endocrinol Metab 2006; 91(8):3071-3075

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 IPM. 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. Cancer Res 2006; 66(7):3471-3479

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, CoRGI Study Consortium. Evidence for a colorectal cancer susceptibility locus on chromosome 3q21-q24 from a high-density SNP genome-wide linkage scan. Hum Mol Genet 2006; 15(19):2903-2910

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. Evidence of linkage to chromosome 9q22.33 in colorectal cancer kindreds from the United Kingdom. Cancer Res 2006; 66(10):5003-5006

Kokko A, Laiho P, Lehtonen R, Korja S, Carvajal-Carmona LG, Jarvinen H, Mecklin JP, Eng C, Schleutker J, Tomlinson IPM, Vahteristo P, Aaltonen LA. EPHB2 germline variants in patients with colorectal cancer or hyperplastic polyposis. BMC Cancer 2006; 6:Article 145

McCart A, Latchford A, Volikos E, Rowan A, Tomlinson I, Silver A. A novel exon duplication event leading to a truncating germ-line mutation of the APC gene in a Familial Adenomatous Polyposis family. Fam Cancer 2006; 5(2):205-208

Mulholland PJ, Fiegler H, Mazzanti C, Gorman P, Sasieni P, Adams J, Jones TA, Babbage JW, Vatcheva R, Ichimura K, East P, Poullikas C, Collins VP, Carter NP, Tomlinson IPM, Sheer D. Genomic profiling identifies discrete deletions associated with translocations in glioblastoma multiforme. Cell Cycle 2006; 5(7):783-791

Pollard PJ, El-Bahrawy M, Poulsom R, Elia G, Killick P, Kelly G, Hunt T, Jeffery R, Seedhar P, Barwell J, Latif F, Gleeson MJ, Hodgson SV, Stamp GW, Tomlinson IPM, Maher ER. Expression of HIF-1alpha, HIF-2alpha(EPAS1), and their target genes in paraganglioma and phaeochromocytoma with VHL and S DH mutations. J Clin Endocrinol Metab 2006; 91(11):4593-4598

Prowse AH, Manek S, Varma R, Liu JS, Godwin AK, Maher ER, Tomlinson IPM, Kennedy SH. Molecular genetic evidence that endometriosis is a precursor of ovarian cancer. Int J Cancer 2006; 119(3):556-562

Roylance R, Gorman P, Papior T, Wan Y-L, Ives M, Watson JE, Collins C, Wortham N, Langford C, Fiegler H, Carter N, Gillett C, Sasieni P, Pinder S, Hanby A, Tomlinson I. A comprehensive study of chromosome 16q in invasive ductal and lobular breast carcinoma using array CGH. Oncogene 2006; 25(49):6544-6553

Sieber OM, Segditsas S, Knudsen AL, Zhang J, Luz J, Rowan AJ, Spain SL, Thirlwell C, Howarth KM, Jaeger EEM, 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 IPM. Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation. Gut 2006; 55(10):1440-1448

Suraweera N, Haines J, McCart A, Rogers P, Latchford A, Coster M, Polanco-Echeverry G, Guenther T, Wang J, Sieber O, Tomlinson I, Silver A. Genetic determinants modulate susceptibility to pregnancy-associated tumourigenesis in a recombinant line of Min mice. Hum Mol Genet 2006; 15(23):3429-3435

Suraweera N, Robinson J, Volikos E, Guenther T, Talbot I, Tomlinson I, Silver A. Mutations within Wnt pathway genes in sporadic colorectal cancers and cell lines. Int J Cancer 2006; 119(8):1837-1842

Vanharanta S, Pollard PJ, Lehtonen HJ, Laiho P, Sjoberg J, Leminen A, Aittomaki K, Arola J, Kruhoffer M, Orntoft TF, Tomlinson IP, Kiuru M, Arango D, Aaltonen LA. Distinct expression profile in fumarate-hydratase-deficient uterine fibroids. Hum Mol Genet 2006; 15(1):97-103

Volikos E, Robinson J, Aittomaki K, Mecklin JP, Jarvinen H, Westerman AM, de Rooij FWM, Vogel T, Moeslein G, Launonen V, Tomlinson IPM, Silver ARJ, Aaltonen LA. LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome. J Med Genet 2006; 43(5):article e18

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. 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. Hum Mol Genet 2006; 15(21):3263-3271

Wortham NC, Alam NA, Barclay E, Pollard PJ, Wagner BE, Manek S, Elia G, Tomlinson IPM. Aberrant expression of apoptosis proteins and ultrastructural aberrations in uterine leiomyomas from patients with hereditary leiomyomatosis and renal cell carcinoma. Fertil Steril 2006; 86(4):961-971

2005

Alam NA, Barclay E, Rowan AJ, Tyrer JP, Calonje E, Manek S, Kelsell D, Leigh I, Olpin S, Tomlinson IPM. Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome. Arch Dermatol 2005; 141(2):199-206

Alam NA, Olpin S, Rowan A, Kelsell D, Leigh IM, Tomlinson IPM, Weaver T. Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer. J Mol Diagn 2005; 7(4):437-443

Alhopuro P, Katajisto P, Lehtonen R, Ylisaukko-oja SK, Naatsaari L, Karhu A, Westerman AM, Wilson JHP, de Rooij FWM, Vogel T, Moeslein G, Tomlinson IP, Aaltonen LA, Makela TP, Launonen V. Mutation analysis of three genes encoding novel LKB1-interacting proteins, BRG1, STRAD alpha, and MO25 alpha, in Peutz-Jeghers syndrome. Br J Cancer 2005; 92(6):1126-1129

Davison EJ, Tarpey PS, Fiegler H, Tomlinson IPM, Carter NP. Deletion at chromosome band 20p 12.1 in colorectal cancer revealed by high resolution array comparative genomic hybridization. Genes Chromosomes Cancer 2005; 44(4):384-391

Haines J, Johnson V, Pack K, Suraweera N, Slijepcevic P, Cabuy E, Coster M, Ilyas M, Wilding J, Sieber O, Bodmer W, Tomlinson I, Silver A. Genetic basis of variation in adenoma multiplicity in Apc(Min/+) Mom1(S) mice. Proc Natl Acad Sci U S A 2005; 102(8):2868-2873

Halford S, Rowan A, Sawyer E, Talbot I, Tomlinson I. O-6-methylguanine methyltransferase in colorectal cancers: detection of mutations, loss of expression, and weak association with G : C > A : T transitions. Gut 2005; 54(6):797-802

Hearle NCM, Tomlinson I, Lim W, Murday V, Swarbrick E, Lim G, Phillips R, Lee P, O'Donohue J, Trembath RC, Morrison PJ, Norman A, Taylor R, Hodgson S, Lucassen A, Houlston RS. Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome. BMC Genomics 2005; 6:Article 38

Hitchins M, Williams R, Cheong K, Halani N, Lin VA, Packham D, Ku S, Buckle A, Hawkins N, Burn J, Gallinger S, Goldblatt J, Kirk J, Tomlinson I, Scott R, Spigelman A, Suter C, Martin D, Suthers G, Ward R. MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer. Gastroenterology 2005; 129(5):1392-1399

Johnson V, Lipton LR, Cummings C, Eftekhar Sadat AT, Izatt L, Hodgson SV, Talbot IC, Thomas HJW, Silver AJR, Tomlinson IPM. Analysis of somatic molecular changes, clinicopathological features, family history, and germline mutations in colorectal cancer families: evidence for efficient diagnosis of HNPCC and for the existence of distinct groups of non-HNPCC families. J Med Genet 2005; 42(10):756-762

Johnson V, Volikos E, Halford SE, Sadat ETE, Popat S, Talbot I, Truninger K, Martin J, Jass J, Houlston R, Atkin W, Tomlinson IPM, Silver ARJ. Exon 3 beta-catenin mutations are specifically associated with colorectal carcinomas in hereditary non-polyposis colorectal cancer syndrome. Gut 2005; 54(2):264-267

Jones AM, Douglas EJ, Halford SER, Fiegler H, Gorman PA, Roylance RR, Carter NP, Tomlinson IPM. Array-CGH analysis of microsatellite-stable, near-diploid bowel cancers and comparison with other types of colorectal carcinoma. Oncogene 2005; 24(1):118-129

Kemp Z, Rowan A, Chambers W, Wortham N, Halford S, Sieber O, Mortensen N, von Herbay A, Gunther T, Ilyas M, Tomlinson I. CDC4 mutations occur in a subset of colorectal cancers but are not predicted to cause loss of function and are not associated with chromosomal instability. Cancer Res 2005; 65(24):11361-11366

Lambros MBK, Fiegler H, Jones A, Gorman P, Roylance RR, Carter NP, Tomlinson IPM. Analysis of ovarian cancer cell lines using array-based comparative genomic hybridization. J Pathol 2005; 205(1):29-40

Parker AR, Sieber OM, Shi C, Hua L, Takao M, Tomlinson IP, Eshleman JR. Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair. Carcinogenesis 2005; 26(11):2010-2018

Pollard P, Wortham N, Barclay E, Alam A, Elia G, Manek S, Poulsom R, Tomlinson I. Evidence of increased microvessel density and activation of the hypoxia pathway in turnours from the hereditary leiomyomatosis and renal cell cancer syndrome. J Pathol 2005; 205(1):41-49

Pollard PJ, Briere JJ, Alam NA, Barwell J, Barclay E, Wortham NC, Hunt T, Mitchell M, Olpin S, Moat SJ, Hargreaves IP, Heales SJ, Chung YL, Griffiths JR, Dalgleish A, McGrath JA, Gleeson MJ, Hodgson SV, Poulsom R, Rustin P, Tomlinson IPM. Accumulation of Krebs cycle intermediates and over-expression of HIF1 alpha in tumours which result from germline FH and SDH mutations. Hum Mol Genet 2005; 14(15):2231-2239

Prowse AH, Fakis G, Manek S, Churchman M, Edwards S, Rowan A, Koninckx P, Kennedy S, Tomlinson IPM. Allelic loss studies do not provide evidence for the "endometriosis-as-tumor" theory. Fertil Steril 2005; 83(Suppl 1):1134-1143

Rasinpera H, Forsblom C, Enattah NS, Halonen P, Salo K, Victorzon M, Mecklin J-P, Jarvinen H, Enholm S, Sellick G, Alazzouzi H, Houlston R, Robinson J, Groop P-H, Tomlinson I, Schwartz S, Aaltonen LA, Jarvela I, the FinnDiane Study Group. The C/C-13910 genotype of adult-type hypolactasia is associated with an increased risk of colorectal cancer in the Finnish population. Gut 2005; 54(5):643-647

Robinson JP, Johnson VL, Rogers PA, Houlston RS, Maher ER, Bishop DT, Evans DGR, Thomas HJW, Tomlinson IPM, Silver ARJ, Colorectal Cancer Gene Identification (CORGI) consortium. Evidence for an association between compound heterozygosity for germ line mutations in the hemochromatosis (HFE) gene and increased risk of colorectal cancer. Cancer Epidemiol Biomarkers Prev 2005; 14(6):1460-1463

Rowan A, Halford S, Gaasenbeek M, Kemp Z, Sieber O, Volikos E, Douglas E, Fiegler H, Carter N, Talbot I, Silver A, Tomlinson I. Refining molecular analysis in the pathways of colorectal carcinogenesis. Clin Gastroenterol Hepatol 2005; 3(11):1115-1123

Suraweera N, Meijne E, Moody J, Carvajal-Carmona LG, Yoshida K, Pollard P, Fitzgibbon J, Riches A, van Laar T, Huiskamp R, Rowan A, Tomlinson IPM, Silver A. Mutations of the PU.1 Ets domain are specifically associated with murine radiation-induced, but not human therapy-related, acute myeloid leukaemia. Oncogene 2005; 24(22):3678-3683

Truta B, Allen BA, Conrad PG, Weinberg V, Miller GA, Pomponio R, Lipton LR, Guerra G, Tomlinson IPM, Sleisenger MH, Kim YS, Terdiman JP. A comparison of the phenotype and genotype in adenomatous polyposis patients with and without a family history. Fam Cancer 2005; 4(2):127-133

Vanharanta S, Wortham NC, Laiho P, Sjoberg J, Aittomaki K, Arola J, Tomlinson IP, Karhu A, Arango D, Aaltonen LA. 7q deletion mapping and expression profiling in uterine fibroids. Oncogene 2005; 24(43):6545-6554

2004

Crabtree MD, Fletcher C, Churchman M, Hodgson SV, Neale K, Phillips RKS, Tomlinson IPM. Analysis of candidate modifier loci for the severity of colonic familial adenomatous polyposis, with evidence for the importance of the N-acetyl transferases. Gut 2004; 53(2):271-276

Douglas EJ, Fiegler H, Rowan A, Halford S, Bicknell DC, Bodmer W, Tomlinson IPM, Carter NP. Array comparative genomic hybridization analysis of colorectal cancer cell lines and primary carcinomas. Cancer Res 2004; 64(14):4817-4825

El-Bahrawy M, Poulsom R, Rowan AJ, Tomlinson IPM, Alison MR. Characterization of the E-cadherin/catenin complex in colorectal carcinoma cell lines. Int J Exp Pathol 2004; 85(2):65-74

Fearnhead NS, Wilding JL, Winney B, Tonks S, Bartlett S, Bicknell DC, Tomlinson IPM, Mortensen NJM, Bodmer WF. Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas. Proc Natl Acad Sci U S A 2004; 101(45):15992-15997

Lipton L, Tomlinson I. The multiple colorectal adenoma phenotype and MYH, a base excision repair gene. Clin Gastroenterol Hepatol 2004; 2(8):633-638

Lipton LR, Johnson V, Cummings C, Fisher S, Risby P, Eftekhar Sadat AT, Cranston T, Izatt L, Sasieni P, Hodgson SV, Thomas HJW, Tomlinson IPM. Refining the Amsterdam criteria and Bethesda guidelines: testing algorithms for the prediction of mismatch repair mutation status in the familial cancer clinic. J Clin Oncol 2004; 22(24):4934-4943

Sieber OM, Howarth KM, Thirlwell C, Rowan A, Mandir N, Goodlad RA, Gilkar A, Spencer-Dene B, Stamp G, Johnson V, Silver A, Yang H, Miller JH, Ilyas M, Tomlinson IPM. Myh deficiency enhances intestinal tumorigenesis in multiple intestinal neoplasia (Apc(Min/+)) mice. Cancer Res 2004; 64(24):8876-8881

Sturt NJH, Gallagher MC, Bassett P, Philp CR, Neale KF, Tomlinson IPM, Silver ARJ, Phillips RKS. Evidence for genetic predisposition to desmoid tumours in familial adenomatous polyposis independent of the germline APC mutation. Gut 2004; 53(12):1832-1836

2003

Alam NA, Gorman P, Jaeger EEM, Kelsell D, Leigh IM, Ratnavel R, Murdoch ME, Houlston RS, Aaltonen LA, Roylance RR, Tomlinson IPM. Germline deletions of EXO1 do not cause colorectal tumors and lesions which are null for EXO1 do not have microsatellite instability. Cancer Genet Cytogenet 2003; 147(2):121-127

Alam NA, Rowan AJ, Wortham NC, Pollard PJ, Mitchell M, Tyrer JP, Barclay E, Calonje E, Manek S, Adams SJ, Bowers PW, Burrows NP, Charles-Holmes R, Cook LJ, Daly BM, Ford GP, Fuller LC, Hadfield-Jones SE, Hardwick N, Highet AS, Keefe M, MacDonald-Hull SP, Potts EDA, Crone M, Wilkinson S, Camacho-Martinez F, Jablonska S, Ratnavel R, MacDonald A, Mann RJ, Grice K, Guillet G, Lewis-Jones MS, McGrath H, Seukeran DC, Morrison PJ, Fleming S, Rahman S, Kelsell D, Leigh I, Olpin S, Tomlinson IPM Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. Hum Mol Genet 2003; 12(11):1241-1252

Crabtree M, Sieber OM, Lipton L, Hodgson SV, Lamlum H, Thomas HJW, Neale K, Phillips RKS, Heinimann K, Tomlinson IPM. Refining the relation between 'first hits' and 'second hits' at the APC locus: the 'loose fit' model and evidence for differences in somatic mutation spectra among patients. Oncogene 2003; 22(27):4257-4265

Enholm S, Hienonen T, Suomalainen A, Lipton L, Tomlinson I, Karja V, Eskelinen M, Mecklin J-P, Karhu A, Jarvinen HJ, Aaltonen LA. Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients. Am J Pathol 2003; 163(3):827-832

Fiegler H, Carr P, Douglas EJ, Burford DC, Hunt S, Smith J, Vetrie D, Gorman P, Tomlinson IPM, Carter NP. DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones. Genes Chromosomes Cancer 2003; 36(4):361-374

Halford SER, Rowan AJ, Lipton L, Sieber OM, Pack K, Thomas HJW, Hodgson SV, Bodmer WF, Tomlinson IPM. Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers. Am J Pathol 2003; 162(5):1545-1548

Halford SER, Sawyer EJ, Lambros MB, Gorman P, Macdonald ND, Talbot IC, Foulkes WD, Gillett CE, Barnes DM, Akslen LA, Lee K, Jacobs IJ, Hanby AM, Ganesan TS, Salvesen HB, Bodmer WF, Tomlinson IP, Roylance RR. MSI-low, a real phenomenon which varies in frequency among cancer types. J Pathol 2003; 201(3):389-394

Jaeger EEM, 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 HJW, Tomlinson IPM. An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome. Am J Hum Genet 2003; 72(5):1261-1267

Laiho P, Hienonen T, Karhu A, Lipton L, Aalto Y, Thomas HJW, Birkenkamp-Demtroder K, Hodgson S, Salovaara R, Mecklin J-P, Jarvinen H, Knuutila S, Halford S, Orntoft TF, Tomlinson I, Launonen V, Houlston R, Aaltonen LA. Genome-wide allelotyping of 104 Finnish colorectal cancers reveals an excess of allelic imbalance in chromosome 20q in familial cases. Oncogene 2003; 22(14):2206-2214

Lampe AK, Hampton PJ, Woodford-Richens K, Tomlinson I, Lawrence CM, Douglas FS. Laugier-Hunziker syndrome: an important differential diagnosis for Peutz-Jeghers syndrome. J Med Genet 2003; 40(6):Article e77

Lim W, Hearle N, Shah B, Murday V, Hodgson SV, Lucassen A, Eccles D, Talbot I, Neale K, Lim AG, O'Donohue J, Donaldson A, Macdonald RC, Young ID, Robinson MH, Lee PWR, Stoodley BJ, Tomlinson I, Alderson D, Holbrook AG, Vyas S, Swarbrick ET, Lewis AAM, Phillips RKS, Houlston RS Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome. Br J Cancer 2003; 89(2):308-313

Lipton L, Fleischmann C, Sieber OM, Thomas HJW, Hodgson SV, Tomlinson IPM, Houlston RS. Contribution of the CHEK2 1100delC variant to risk of multiple colorectal adenoma and carcinoma. Cancer Lett 2003; 200(2):149-152

Lipton L, Halford SE, Johnson V, Novelli MR, Jones A, Cummings C, Barclay E, Sieber O, Sadat A, Bisgaard M-L, Hodgson SV, Aaltonen LA, Thomas HJW, Tomlinson IPM. Carcinogenesis in MYH-associated polyposis follows a distinct genetic pathway. Cancer Res 2003; 63(22):7595-7599

Lipton L, Sieber OM, Thomas HJW, Hodgson SV, Tomlinson IPM, Woodford-Richens K. Germline mutations in the TGF-beta and Wnt signalling pathways are a rare cause of the "multiple" adenoma phenotype. J Med Genet 2003; 40(4):Article e35

Pollard PJ, Wortham NC, Tomlinson IPM. The TCA cycle and tumorigenesis: the examples of fumarate hydratase and succinate dehydrogenase. Ann Med 2003; 35(8):632-639

Preston SL, Wong W-M, Chan AO-O, Poulsom R, Jeffery R, Goodlad RA, Mandir N, Elia G, Novelli M, Bodmer WF, Tomlinson IP, Wright NA. Bottom-up histogenesis of colorectal adenomas: origin in the monocryptal adenoma and initial expansion by crypt fission. Cancer Res 2003; 63(13):3819-3825

Roylance R, Droufakou S, Gorman P, Gillett C, Hart IR, Hanby A, Tomlinson I. The role of E-cadherin in low-grade ductal breast tumourigenesis. J Pathol 2003; 200(1):53-58

Sawyer EJ, Hanby AM, Poulsom R, Jeffery R, Gillett CE, Ellis IO, Ellis P, Tomlinson IPM. beta-catenin abnormalities and associated insulin-like growth factor overexpression are important in phyllodes tumours and fibroadenomas of the breast. J Pathol 2003; 200(5):627-632

Sawyer EJ, Poulsom R, Hunt FT, Jeffery R, Elia G, Ellis IO, Ellis P, Tomlinson IPM, Hanby AM. Malignant phyllodes tumours show stromal overexpression of c-myc and c-kit. J Pathol 2003; 200(1):59-64

Sieber O, Lipton L, Heinimann K, Tomlinson I. Colorectal tumourigenesis in carriers of the APC I1307K variant: lone gunman or conspiracy? J Pathol 2003; 199(2):137-139

Sieber OM, Lipton L, Crabtree M, Heinimann K, Fidalgo P, Phillips RKS, Bisgaard M, Orntoft TF, Aaltonen LA, Hodgson SV, Thomas HJW, Tomlinson IPM. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med 2003; 348(9):791-799

Suter CM, Norrie M, Ku SL, Cheong KF, Tomlinson I, Ward RL. CpG island methylation is a common finding in colorectal cancer cell lines. Br J Cancer 2003; 88(3):413-419

2002

Crabtree MD, Tomlinson IPM, Hodgson SV, Neale K, Phillips RKS, Houlston RS. Explaining variation in familial adenomatous polyposis: relationship between genotype and phenotype and evidence for modifier genes. Gut 2002; 51(3):420-423

Flasza M, Gorman P, Roylance R, Canfield AE, Baron M. Alternative splicing determines the domain structure of WWP1, a Nedd4 family protein. Biochem Biophys Res Commun 2002; 290(1):431-437

Groves C, Lamlum H, Crabtree M, Williamson J, Taylor C, Bass S, Cuthbert-Heavens D, Hodgson S, Phillips R, Tomlinson I. Mutation cluster region, association between germline and somatic mutations and genotype phenotype correlation in upper gastrointestinal familial adenomatous polyposis. Am J Pathol 2002; 160(6):2055-2061

Halford S, Sasieni P, Rowan A, Wasan H, Bodmer W, Talbot I, Hawkins N, Ward R, Tomlinson I. Low-level microsatellite instability occurs in most colorectal cancers and is a nonrandomly distributed quantitative trait. Cancer Res 2002; 62(1):53-57

Hao XP, Frayling IM, Sgouros JG, Du MQ, Willcocks TC, Talbot IC, Tomlinson IPM. The spectrum of p53 mutations in colorectal adenomas differs from that in colorectal carcinomas. Gut 2002; 50(6):834-839

Hao XP, Frayling IM, Willcocks TC, Han W, Tomlinson IPM, Pignatelli MN, Pretlow TP, Talbot IC. beta-catenin expression and allelic loss at APC in sporadic colorectal carcinogenesis. Virchows Arch 2002; 440(4):362-366

Multiple Leiomyoma Consortium, Tomlinson IPM, Alam NA, Rowan AJ, Barclay E, Jaeger EEM, 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, Aittomaki K, Hietala M, Sistonen P, Paetau A, Salovaara R, Herva R, Launonen V, Aaltonen LA Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet 2002; 30(4):406-410

Porter TR, Richards FM, Houlston RS, Evans DGR, Jankowski JA, Macdonald F, Norbury G, Payne SJ, Fisher SA, Tomlinson I, Maher ER. Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer. Oncogene 2002; 21(12):1928-1933

Roylance R, Gorman P, Hanby A, Tomlinson I. Allelic imbalance analysis of chromosome 16q shows that grade I and grade III invasive ductal breast cancers follow different genetic pathways. J Pathol 2002; 196(1):32-36

Sawyer EJ, Cerar A, Hanby AM, Gorman P, Arends M, Talbot IC, Tomlinson IPM. Molecular characteristics of serrated adenomas of the colorectum. Gut 2002; 51(2):200-206

Sawyer EJ, Hanby AM, Rowan AJ, Gillett CE, Thomas RE, Poulsom R, Lakhani SR, Ellis IO, Ellis P, Tomlinson IPM. The Wnt pathway, epithelial-stromal interactions, and malignant progression in phyllodes tumours. J Pathol 2002; 196(4):437-444

Sieber OM, Heinimann K, Gorman P, Lamlum H, Crabtree M, Simpson CA, Davies D, Neale K, Hodgson SV, Roylance RR, Phillips RKS, Bodmer WF, Tomlinson IPM. Analysis of chromosomal instability in human colorectal adenomas with two mutational hits at APC. Proc Natl Acad Sci U S A 2002; 99(26):16910-16915

Sieber OM, Lamlum H, Crabtree MD, Rowan AJ, Barclay E, Lipton L, Hodgson S, Thomas HJW, Neale K, Phillips RKS, Farrington SM, Dunlop MG, Mueller HJ, Bisgaard ML, Bulow S, Fidalgo P, Albuquerque C, Scarano MI, Bodmer W, Tomlinson IPM, Heinimann K. Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas. Proc Natl Acad Sci U S A 2002; 99(5):2954-2958

Tomlinson I, Halford S, Aaltonen L, Hawkins N, Ward R. Does MSI-low exist? J Pathol 2002; 197(1):6-13

Tomlinson I, Sasieni P, Bodmer W. How many mutations in a cancer? Am J Pathol 2002; 160(3):755-758

Tomlinson IPM, Lambros MBK, Roylance RR. Loss of heterozygosity analysis: practically and conceptually flawed? Genes Chromosomes Cancer 2002; 34(4):349-353

Wilding J, Straub J, Bee J, Churchman M, Bodmer W, Dickson C, Tomlinson I, Ilyas M. Cyclin D1 is not an essential target of beta-catenin signaling during intestinal tumorigenesis, but it may act as a modifier of disease severity in multiple intestinal neoplasia (Min) mice. Cancer Res 2002; 62(16):4562-4565

Other Publications

Walther A, Houlston R, Tomlinson I. Association between chromosomal instability and prognosis in colorectal cancer: a meta-analysis. Gut 2008;57(7):941-50

Will OC, Man RF, Phillips RK,Tomlinson IP, Clark SK. Familial adenomatous polyposis and the small bowel: a locoregional review and current management strategies. Pathol Res Pract 2008;204(7):449-58

Brinkman H, Barwell J, Rose S, Tinworth L, Sodha N, Langman C, Brooks L, Payne S, Fisher S, Rowan A, Tomlinson I, Hodgson S. Evidence against a major genetic basis for combined breast and colorectal cancer susceptibility. Clin Genet 2006; 70(6):526-529

Hitchins M, Suter C, Wong J, Cheong K, Hawkins N, Leggett B, Scott R, Spigelman A, Tomlinson I, Martin D, Ward R. Germline epimutations of APC are not associated with inherited colorectal polyposis. Gut 2006; 55(4):586-587

Leedham SJ, Jankowski J, Wright N, Tomlinson IPM. Genetics of inflammatory bowel disease and associated cancers. Curr Colorectal Cancer Rep 2006; 2:191-199

Lipton L, Tomlinson I. The genetics of FAP and FAP-like syndromes. Fam Cancer 2006; 5(3):221-226

Segditsas S, Tomlinson I. Colorectal cancer and genetic alterations in the Wnt pathway. Oncogene 2006; 25(57):7531-7537

Swanton C, Tomlinson I, Downward J. Chromosomal instability, colorectal cancer and taxane resistance. Cell Cycle 2006; 5(8):818-823

Gottlieb E, Tomlinson IPM. Mitochondrial tumour suppressors: a genetic and biochemical update. Nat Rev Cancer 2005; 5(11):857-866

Sieber O, Heinimann K, Tomlinson I. Genomic stability and tumorigenesis. Semin Cancer Biol 2005; 15(1):61-66

Sieber OM, Tomlinson SR, Tomlinson IPM. Opinion - Tissue, cell and stage specificity of (epi)mutations in cancers. Nat Rev Cancer 2005; 5(8):649-655

Wortham NC, Tomlinson IPM. Dercum's disease. Skin Med 2005; 4(3):157-162

Ardavin C, Amigorena S, Reis e Sousa C. Dendritic cells: immunobiology and cancer immunity. Immunity 2004; 20(1):17-23

Brooks L, Barwell J, Hodgson SV, Brinkmann H, Tomlinson I, Moller H. A genetic aetiology for double primary cancers (breast/colorectal or breast/thyroid)? J Med Genet 2004; 41(Supp 1):S36-S36

Kemp Z, Thirlwell C, Sieber O, Silver A, Tomlinson I. An update on the genetics of colorectal cancer. Hum Mol Genet 2004; 13(Spec Iss 2):R177-R185

Sieber OM, Heinimann K, Tomlinson IPM. Genomic instability: the engine of tumorigenesis? Nat Rev Cancer 2003; 3(9):701-708

Tomlinson I, Halford S, Aaltonen L, Hawkins N, Ward R. Re: Tomlinson et al. Does MSI-low exist - Authors' reply. J Pathol 2003; 199(2):269-270

Roylance R. Methods of molecular analysis: assessing losses and gains in tumours. J Clin Pathol Mol Pathol 2002; 55(1):25-28