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790 results

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Cluster-randomised non-inferiority trial comparing DVD-assisted and traditional genetic counselling in systematic population testing for BRCA1/2 mutations.
Manchanda R, Burnell M, Loggenberg K, Desai R, Wardle J, Sanderson SC, Gessler S, Side L, Balogun N, Kumar A, Dorkins H, Wallis Y, Chapman C, Tomlinson I, Taylor R, Jacobs C, Legood R, Raikou M, McGuire A, Beller U, Menon U, Jacobs I. Manchanda R, et al. Among authors: tomlinson i. J Med Genet. 2016 Jul;53(7):472-80. doi: 10.1136/jmedgenet-2015-103740. Epub 2016 Mar 18. J Med Genet. 2016. PMID: 26993268 Clinical Trial.
Two hits revisited again.
Tomlinson IP, Roylance R, Houlston RS. Tomlinson IP, et al. J Med Genet. 2001 Feb;38(2):81-5. doi: 10.1136/jmg.38.2.81. J Med Genet. 2001. PMID: 11158170 Free PMC article. Review.
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.
Johnson V, Lipton LR, Cummings C, Eftekhar Sadat AT, Izatt L, Hodgson SV, Talbot IC, Thomas HJ, Silver AJ, Tomlinson IP. Johnson V, et al. Among authors: tomlinson ip. J Med Genet. 2005 Oct;42(10):756-62. doi: 10.1136/jmg.2005.031245. Epub 2005 Mar 23. J Med Genet. 2005. PMID: 15788729 Free PMC article.
Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk.
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. Jaeger E, et al. Among authors: tomlinson i. Nat Genet. 2008 Jan;40(1):26-8. doi: 10.1038/ng.2007.41. Epub 2007 Dec 16. Nat Genet. 2008. PMID: 18084292
A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2.
Song H, Ramus SJ, Tyrer J, Bolton KL, Gentry-Maharaj A, Wozniak E, Anton-Culver H, Chang-Claude J, Cramer DW, DiCioccio R, Dörk T, Goode EL, Goodman MT, Schildkraut JM, Sellers T, Baglietto L, Beckmann MW, Beesley J, Blaakaer J, Carney ME, Chanock S, Chen Z, Cunningham JM, Dicks E, Doherty JA, Dürst M, Ekici AB, Fenstermacher D, Fridley BL, Giles G, Gore ME, De Vivo I, Hillemanns P, Hogdall C, Hogdall E, Iversen ES, Jacobs IJ, Jakubowska A, Li D, Lissowska J, Lubiński J, Lurie G, McGuire V, McLaughlin J, Medrek K, Moorman PG, Moysich K, Narod S, Phelan C, Pye C, Risch H, Runnebaum IB, Severi G, Southey M, Stram DO, Thiel FC, Terry KL, Tsai YY, Tworoger SS, Van Den Berg DJ, Vierkant RA, Wang-Gohrke S, Webb PM, Wilkens LR, Wu AH, Yang H, Brewster W, Ziogas A; Australian Cancer (Ovarian) Study; Australian Ovarian Cancer Study Group; Ovarian Cancer Association Consortium; Houlston R, Tomlinson I, Whittemore AS, Rossing MA, Ponder BA, Pearce CL, Ness RB, Menon U, Kjaer SK, Gronwald J, Garcia-Closas M, Fasching PA, Easton DF, Chenevix-Trench G, Berchuck A, Pharoah PD, Gayther SA. Song H, et al. Among authors: tomlinson i. Nat Genet. 2009 Sep;41(9):996-1000. doi: 10.1038/ng.424. Epub 2009 Aug 2. Nat Genet. 2009. PMID: 19648919 Free PMC article.
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.
Palles C, Cazier JB, Howarth KM, Domingo E, Jones AM, Broderick P, Kemp Z, Spain SL, Guarino E, Salguero I, Sherborne A, Chubb D, Carvajal-Carmona LG, Ma Y, Kaur K, Dobbins S, Barclay E, Gorman M, Martin L, Kovac MB, Humphray S; CORGI Consortium; WGS500 Consortium; Lucassen A, Holmes CC, Bentley D, Donnelly P, Taylor J, Petridis C, Roylance R, Sawyer EJ, Kerr DJ, Clark S, Grimes J, Kearsey SE, Thomas HJ, McVean G, Houlston RS, Tomlinson I. Palles C, et al. Among authors: tomlinson i. Nat Genet. 2013 Feb;45(2):136-44. doi: 10.1038/ng.2503. Epub 2012 Dec 23. Nat Genet. 2013. PMID: 23263490 Free PMC article.
Population testing for cancer predisposing BRCA1/BRCA2 mutations in the Ashkenazi-Jewish community: a randomized controlled trial.
Manchanda R, Loggenberg K, Sanderson S, Burnell M, Wardle J, Gessler S, Side L, Balogun N, Desai R, Kumar A, Dorkins H, Wallis Y, Chapman C, Taylor R, Jacobs C, Tomlinson I, McGuire A, Beller U, Menon U, Jacobs I. Manchanda R, et al. Among authors: tomlinson i. J Natl Cancer Inst. 2014 Nov 30;107(1):379. doi: 10.1093/jnci/dju379. Print 2015 Jan. J Natl Cancer Inst. 2014. PMID: 25435541 Free PMC article. Clinical Trial.
Cost-effectiveness of population screening for BRCA mutations in Ashkenazi jewish women compared with family history-based testing.
Manchanda R, Legood R, Burnell M, McGuire A, Raikou M, Loggenberg K, Wardle J, Sanderson S, Gessler S, Side L, Balogun N, Desai R, Kumar A, Dorkins H, Wallis Y, Chapman C, Taylor R, Jacobs C, Tomlinson I, Beller U, Menon U, Jacobs I. Manchanda R, et al. Among authors: tomlinson i. J Natl Cancer Inst. 2014 Nov 30;107(1):380. doi: 10.1093/jnci/dju380. Print 2015 Jan. J Natl Cancer Inst. 2014. PMID: 25435542 Free PMC article.
No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.
Easton DF, Lesueur F, Decker B, Michailidou K, Li J, Allen J, Luccarini C, Pooley KA, Shah M, Bolla MK, Wang Q, Dennis J, Ahmad J, Thompson ER, Damiola F, Pertesi M, Voegele C, Mebirouk N, Robinot N, Durand G, Forey N, Luben RN, Ahmed S, Aittomäki K, Anton-Culver H, Arndt V; Australian Ovarian Cancer Study Group; Baynes C, Beckman MW, Benitez J, Van Den Berg D, Blot WJ, Bogdanova NV, Bojesen SE, Brenner H, Chang-Claude J, Chia KS, Choi JY, Conroy DM, Cox A, Cross SS, Czene K, Darabi H, Devilee P, Eriksson M, Fasching PA, Figueroa J, Flyger H, Fostira F, García-Closas M, Giles GG, Glendon G, González-Neira A, Guénel P, Haiman CA, Hall P, Hart SN, Hartman M, Hooning MJ, Hsiung CN, Ito H, Jakubowska A, James PA, John EM, Johnson N, Jones M, Kabisch M, Kang D; kConFab Investigators; Kosma VM, Kristensen V, Lambrechts D, Li N; Lifepool Investigators; Lindblom A, Long J, Lophatananon A, Lubinski J, Mannermaa A, Manoukian S, Margolin S, Matsuo K, Meindl A, Mitchell G, Muir K; NBCS Investigators; Nevelsteen I, van den Ouweland A, Peterlongo P, Phuah SY, Pylkäs K, Rowley SM, Sangrajrang S, Schmutzler RK, Shen CY, Shu XO, Southey MC, Surowy H, Swerdlow A, Teo SH, Tollenaar RA, Tomlinson … See abstract for full author list ➔ Easton DF, et al. Among authors: tomlinson i. J Med Genet. 2016 May;53(5):298-309. doi: 10.1136/jmedgenet-2015-103529. Epub 2016 Feb 26. J Med Genet. 2016. PMID: 26921362 Free PMC article.
790 results