Variants at the secretory phospholipase A2 (PLA2G2A) locus: analysis of associations with familial adenomatous polyposis and sporadic colorectal tumours. by Tomlinson, I, Beck, N, Neale, K, Bodmer, W

Explaining variation in familial adenomatous polyposis: relationship between genotype and phenotype and evidence for modifier genes. by Crabtree, MD, Tomlinson, I, Hodgson, S, Neale, K, Phillips, R, Houlston, R

Analysis of candidate modifier loci for the severity of colonic familial adenomatous polyposis, with evidence for the importance of the N-acetyl transferases. by Crabtree, MD, Fletcher, C, Churchman, M, Hodgson, S, Neale, K, Phillips, R, Tomlinson, I

A modifying locus for familial adenomatous polyposis may be present on chromosome 1p35-p36. by Tomlinson, I, Neale, K, Talbot, I, Spigelman, A, Williams, C, Phillips, R, Bodmer, W

Evidence for genetic predisposition to desmoid tumours in familial adenomatous polyposis independent of the germline APC mutation. by Sturt, N, Gallagher, M, Bassett, P, Philp, C, Neale, K, Tomlinson, I, Silver, A, Phillips, R

Promoter hypermethylation leads to decreased APC mRNA expression in familial polyposis and sporadic colorectal tumours, but does not substitute for truncating mutations. by Segditsas, S, Sieber, O, Rowan, A, Setien, F, Neale, K, Phillips, R, Ward, R, Esteller, M, Tomlinson, I

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. by Crabtree, M, Sieber, O, Lipton, L, Hodgson, S, Lamlum, H, Thomas, H, Neale, K, Phillips, R, Heinimann, K, Tomlinson, I

Analysis of chromosomal instability in human colorectal adenomas with two mutational hits at APC. by Sieber, O, Heinimann, K, Gorman, P, Lamlum, H, Crabtree, M, Simpson, C, Davies, D, Neale, K, Hodgson, S, Roylance, R, Phillips, R, Bodmer, W, Tomlinson, I

Inherited susceptibility to colorectal adenomas and carcinomas: evidence for a new predisposition gene on 15q14-q22. by Tomlinson, I, Rahman, N, Frayling, I, Mangion, J, Barfoot, R, Hamoudi, R, Seal, S, Northover, J, Thomas, H, Neale, K, Hodgson, S, Talbot, I, Houlston, R, Stratton, MR

Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer. by Ylikorkala, A, Avizienyte, E, Tomlinson, I, Tiainen, M, Roth, S, Loukola, A, Hemminki, A, Johansson, M, Sistonen, P, Markie, D, Neale, K, Phillips, R, Zauber, P, Twama, T, Sampson, J, Järvinen, H, Mäkelä, T, Aaltonen, L

The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis. by Lamlum, H, Ilyas, M, Rowan, A, Clark, S, Johnson, V, Bell, J, Frayling, I, Efstathiou, J, Pack, K, Payne, S, Roylance, R, Gorman, P, Sheer, D, Neale, K, Phillips, R, Talbot, I, Bodmer, W, Tomlinson, I

Screening SMAD1, SMAD2, SMAD3, and SMAD5 for germline mutations in juvenile polyposis syndrome. by Bevan, S, Woodford-Richens, K, Rozen, P, Eng, C, Young, J, Dunlop, M, Neale, K, Phillips, R, Markie, D, Rodriguez-Bigas, M, Leggett, B, Sheridan, E, Hodgson, S, Iwama, T, Eccles, D, Bodmer, W, Houlston, R, Tomlinson, I

Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases. by Houlston, R, Bevan, S, Williams, A, Young, J, Dunlop, M, Rozen, P, Eng, C, Markie, D, Woodford-Richens, K, Rodriguez-Bigas, M, Leggett, B, Neale, K, Phillips, R, Sheridan, E, Hodgson, S, Iwama, T, Eccles, D, Bodmer, W, Tomlinson, I

Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas by Sieber, O, Lamlum, H, Crabtree, MD, Rowan, A, Barclay, E, Lipton, L, Hodgson, S, Thomas, H, Neale, K, Phillips, R, Farrington, S, Dunlop, MG, Mueller, H, Bisgaard, M, Bulow, S, Fidalgo, P, Albuquerque, C, Scarano, M, Bodmer, W, Tomlinson, I, Heinimann, K

Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas. by Sieber, O, Lamlum, H, Crabtree, MD, Rowan, A, Barclay, E, Lipton, L, Hodgson, S, Thomas, H, Neale, K, Phillips, R, Farrington, S, Dunlop, MG, Mueller, H, Bisgaard, M, Bulow, S, Fidalgo, P, Albuquerque, C, Scarano, M, Bodmer, W, Tomlinson, I, Heinimann, K

Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation. by Sieber, O, Segditsas, S, Knudsen, A, Zhang, J, Luz, J, Rowan, A, Spain, S, Thirlwell, C, Howarth, K, Jaeger, E, 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, I

Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3. by Olschwang, S, Markie, D, Seal, S, Neale, K, Phillips, R, Cottrell, S, Ellis, I, Hodgson, S, Zauber, P, Spigelman, A, Iwama, T, Loff, S, McKeown, C, Marchese, C, Sampson, J, Davies, S, Talbot, I, Wyke, J, Thomas, G, Bodmer, W, Hemminki, A, Avizienyte, E, de la Chapelle, A, Aaltonen, L, Tomlinson, I

Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome. by Marsh, D, Roth, S, Lunetta, K, Hemminki, A, Dahia, P, Sistonen, P, Zheng, Z, Caron, S, van Orsouw, N, Bodmer, W, Cottrell, SE, Dunlop, MG, Eccles, D, Hodgson, S, Järvinen, H, Kellokumpu, I, Markie, D, Neale, K, Phillips, R, Rozen, P, Syngal, S, Vijg, J, Tomlinson, I, Aaltonen, L, Eng, C

Analysis of genetic and phenotypic heterogeneity in juvenile polyposis. by Woodford-Richens, K, Bevan, S, Churchman, M, Dowling, B, Jones, D, Norbury, C, Hodgson, S, Desai, D, Neale, K, Phillips, R, Young, J, Leggett, B, Dunlop, M, Rozen, P, Eng, C, Markie, D, Rodriguez-Bigas, M, Sheridan, E, Iwama, T, Eccles, D, Smith, G, Kim, J, Kim, K, Sampson, JR, Evans, G

Germline mutations in BMPR1A/ALK3 cause a subset of cases of Juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes by Zhou, X, Woodford-Richens, K, Lehtonen, R, Kurose, K, Aldred, M, Hampel, H, Launonen, V, Virta, S, Pilarski, R, Salovaara, R, Bodmer, W, Conrad, B, Dunlop, M, Hodgson, S, Iwama, T, Järvinen, H, Kellokumpu, I, Kim, J, Leggett, B, Markie, D, Mecklin, J, Neale, K, Phillips, R, Piris, J, Rozen, P