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Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer.
Tomlinson IP, Carvajal-Carmona LG, Dobbins SE, Tenesa A, Jones AM, Howarth K, Palles C, Broderick P, Jaeger EE, Farrington S, Lewis A, Prendergast JG, Pittman AM, Theodoratou E, Olver B, Walker M, Penegar S, Barclay E, Whiffin N, Martin L, Ballereau S, Lloyd A, Gorman M, Lubbe S; COGENT Consortium; CORGI Collaborators; EPICOLON Consortium; Howie B, Marchini J, Ruiz-Ponte C, Fernandez-Rozadilla C, Castells A, Carracedo A, Castellvi-Bel S, Duggan D, Conti D, Cazier JB, Campbell H, Sieber O, Lipton L, Gibbs P, Martin NG, Montgomery GW, Young J, Baird PN, Gallinger S, Newcomb P, Hopper J, Jenkins MA, Aaltonen LA, Kerr DJ, Cheadle J, Pharoah P, Casey G, Houlston RS, Dunlop MG. Tomlinson IP, et al. Among authors: aaltonen la. PLoS Genet. 2011 Jun;7(6):e1002105. doi: 10.1371/journal.pgen.1002105. Epub 2011 Jun 2. PLoS Genet. 2011. PMID: 21655089 Free PMC article.
Population carrier frequency of hMSH2 and hMLH1 mutations.
Dunlop MG, Farrington SM, Nicholl I, Aaltonen L, Petersen G, Porteous M, Carothers A. Dunlop MG, et al. Br J Cancer. 2000 Dec;83(12):1643-5. doi: 10.1054/bjoc.2000.1520. Br J Cancer. 2000. PMID: 11104559 Free PMC article.
Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.
Zhou XP, Woodford-Richens K, Lehtonen R, Kurose K, Aldred M, Hampel H, Launonen V, Virta S, Pilarski R, Salovaara R, Bodmer WF, Conrad BA, Dunlop M, Hodgson SV, Iwama T, Järvinen H, Kellokumpu I, Kim JC, Leggett B, Markie D, Mecklin JP, Neale K, Phillips R, Piris J, Rozen P, Houlston RS, Aaltonen LA, Tomlinson IP, Eng C. Zhou XP, et al. Among authors: aaltonen la. Am J Hum Genet. 2001 Oct;69(4):704-11. doi: 10.1086/323703. Epub 2001 Aug 30. Am J Hum Genet. 2001. PMID: 11536076 Free PMC article.
Comprehensive analysis of SMAD4 mutations and protein expression in juvenile polyposis: evidence for a distinct genetic pathway and polyp morphology in SMAD4 mutation carriers.
Woodford-Richens KL, Rowan AJ, Poulsom R, Bevan S, Salovaara R, Aaltonen LA, Houlston RS, Wright NA, Tomlinson IP. Woodford-Richens KL, et al. Among authors: aaltonen la. Am J Pathol. 2001 Oct;159(4):1293-300. doi: 10.1016/S0002-9440(10)62516-3. Am J Pathol. 2001. PMID: 11583957 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: aaltonen la. Nat Genet. 2002 Apr;30(4):406-10. doi: 10.1038/ng849. Epub 2002 Feb 25. Nat Genet. 2002. PMID: 11865300
Does MSI-low exist?
Tomlinson I, Halford S, Aaltonen L, Hawkins N, Ward R. Tomlinson I, et al. J Pathol. 2002 May;197(1):6-13. doi: 10.1002/path.1071. J Pathol. 2002. PMID: 12081205 Review.
Genome-wide allelotyping of 104 Finnish colorectal cancers reveals an excess of allelic imbalance in chromosome 20q in familial cases.
Laiho P, Hienonen T, Karhu A, Lipton L, Aalto Y, Thomas HJ, Birkenkamp-Demtroder K, Hodgson S, Salovaara R, Mecklin JP, Järvinen H, Knuutila S, Halford S, Ørntoft TF, Tomlinson I, Launonen V, Houlston R, Aaltonen LA. Laiho P, et al. Among authors: aaltonen la. Oncogene. 2003 Apr 10;22(14):2206-14. doi: 10.1038/sj.onc.1206294. Oncogene. 2003. PMID: 12687022
438 results