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Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression.
Darabi H, McCue K, Beesley J, Michailidou K, Nord S, Kar S, Humphreys K, Thompson D, Ghoussaini M, Bolla MK, Dennis J, Wang Q, Canisius S, Scott CG, Apicella C, Hopper JL, Southey MC, Stone J, Broeks A, Schmidt MK, Scott RJ, Lophatananon A, Muir K, Beckmann MW, Ekici AB, Fasching PA, Heusinger K, Dos-Santos-Silva I, Peto J, Tomlinson I, Sawyer EJ, Burwinkel B, Marme F, Guénel P, Truong T, Bojesen SE, Flyger H, Benitez J, González-Neira A, Anton-Culver H, Neuhausen SL, Arndt V, Brenner H, Engel C, Meindl A, Schmutzler RK; German Consortium of Hereditary Breast and Ovarian Cancer; Arnold N, Brauch H, Hamann U, Chang-Claude J, Khan S, Nevanlinna H, Ito H, Matsuo K, Bogdanova NV, Dörk T, Lindblom A, Margolin S; kConFab/AOCS Investigators; Kosma VM, Mannermaa A, Tseng CC, Wu AH, Floris G, Lambrechts D, Rudolph A, Peterlongo P, Radice P, Couch FJ, Vachon C, Giles GG, McLean C, Milne RL, Dugué PA, Haiman CA, Maskarinec G, Woolcott C, Henderson BE, Goldberg MS, Simard J, Teo SH, Mariapun S, Helland Å, Haakensen V, Zheng W, Beeghly-Fadiel A, Tamimi R, Jukkola-Vuorinen A, Winqvist R, Andrulis IL, Knight JA, Devilee P, Tollenaar RA, Figueroa J, García-Closas M, Czene K, Hooning MJ, Ti… See abstract for full author list ➔ Darabi H, et al. Among authors: tomlinson i. Am J Hum Genet. 2015 Jul 2;97(1):22-34. doi: 10.1016/j.ajhg.2015.05.002. Epub 2015 Jun 11. Am J Hum Genet. 2015. PMID: 26073781 Free PMC article.
Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.
Houlston R, Bevan S, Williams A, Young J, Dunlop M, Rozen P, Eng C, Markie D, Woodford-Richens K, Rodriguez-Bigas MA, Leggett B, Neale K, Phillips R, Sheridan E, Hodgson S, Iwama T, Eccles D, Bodmer W, Tomlinson I. Houlston R, et al. Among authors: tomlinson i. Hum Mol Genet. 1998 Nov;7(12):1907-12. doi: 10.1093/hmg/7.12.1907. Hum Mol Genet. 1998. PMID: 9811934
Mutations in Bcl10 are very rare in colorectal cancer.
Stone JG, Rowan AJ, Tomlinson IP, Houlston RS. Stone JG, et al. Among authors: tomlinson ip. Br J Cancer. 1999 Jul;80(10):1569-70. doi: 10.1038/sj.bjc.6690562. Br J Cancer. 1999. PMID: 10408399 Free PMC article.
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: tomlinson ip. 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.
789 results