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Page 1
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.
Ruark E, Snape K, Humburg P, Loveday C, Bajrami I, Brough R, Rodrigues DN, Renwick A, Seal S, Ramsay E, Duarte Sdel V, Rivas MA, Warren-Perry M, Zachariou A, Campion-Flora A, Hanks S, Murray A, Ansari Pour N, Douglas J, Gregory L, Rimmer A, Walker NM, Yang TP, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Eccles D, Evans DG, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L, Gore M, Houlston R, Brown MA, Caufield MJ, Deloukas P, McCarthy MI, Todd JA; Breast and Ovarian Cancer Susceptibility Collaboration; Wellcome Trust Case Control Consortium; Turnbull C, Reis-Filho JS, Ashworth A, Antoniou AC, Lord CJ, Donnelly P, Rahman N. Ruark E, et al. Among authors: loveday c. Nature. 2013 Jan 17;493(7432):406-10. doi: 10.1038/nature11725. Epub 2012 Dec 16. Nature. 2013. PMID: 23242139 Free PMC article.
Germline mutations in RAD51D confer susceptibility to ovarian cancer.
Loveday C, Turnbull C, Ramsay E, Hughes D, Ruark E, Frankum JR, Bowden G, Kalmyrzaev B, Warren-Perry M, Snape K, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L; Breast Cancer Susceptibility Collaboration (UK); Eccles D, Evans DG, Renwick A, Seal S, Lord CJ, Ashworth A, Reis-Filho JS, Antoniou AC, Rahman N. Loveday C, et al. Nat Genet. 2011 Aug 7;43(9):879-882. doi: 10.1038/ng.893. Nat Genet. 2011. PMID: 21822267 Free PMC article.
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
Tatton-Brown K, Hanks S, Ruark E, Zachariou A, Duarte Sdel V, Ramsay E, Snape K, Murray A, Perdeaux ER, Seal S, Loveday C, Banka S, Clericuzio C, Flinter F, Magee A, McConnell V, Patton M, Raith W, Rankin J, Splitt M, Strenger V, Taylor C, Wheeler P, Temple KI, Cole T; Childhood Overgrowth Collaboration; Douglas J, Rahman N. Tatton-Brown K, et al. Among authors: loveday c. Oncotarget. 2011 Dec;2(12):1127-33. doi: 10.18632/oncotarget.385. Oncotarget. 2011. PMID: 22190405 Free PMC article.
Stratification of Wilms tumor by genetic and epigenetic analysis.
Scott RH, Murray A, Baskcomb L, Turnbull C, Loveday C, Al-Saadi R, Williams R, Breatnach F, Gerrard M, Hale J, Kohler J, Lapunzina P, Levitt GA, Picton S, Pizer B, Ronghe MD, Traunecker H, Williams D, Kelsey A, Vujanic GM, Sebire NJ, Grundy P, Stiller CA, Pritchard-Jones K, Douglas J, Rahman N. Scott RH, et al. Among authors: loveday c. Oncotarget. 2012 Mar;3(3):327-35. doi: 10.18632/oncotarget.468. Oncotarget. 2012. PMID: 22470196 Free PMC article.
Germline RAD51C mutations confer susceptibility to ovarian cancer.
Loveday C, Turnbull C, Ruark E, Xicola RM, Ramsay E, Hughes D, Warren-Perry M, Snape K; Breast Cancer Susceptibility Collaboration (UK); Eccles D, Evans DG, Gore M, Renwick A, Seal S, Antoniou AC, Rahman N. Loveday C, et al. Nat Genet. 2012 Apr 26;44(5):475-6; author reply 476. doi: 10.1038/ng.2224. Nat Genet. 2012. PMID: 22538716 No abstract available.
Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.
Loveday C, Tatton-Brown K, Clarke M, Westwood I, Renwick A, Ramsay E, Nemeth A, Campbell J, Joss S, Gardner M, Zachariou A, Elliott A, Ruark E, van Montfort R; Childhood Overgrowth Collaboration; Rahman N. Loveday C, et al. Hum Mol Genet. 2015 Sep 1;24(17):4775-9. doi: 10.1093/hmg/ddv182. Epub 2015 May 13. Hum Mol Genet. 2015. PMID: 25972378 Free PMC article.
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
Tatton-Brown K, Loveday C, Yost S, Clarke M, Ramsay E, Zachariou A, Elliott A, Wylie H, Ardissone A, Rittinger O, Stewart F, Temple IK, Cole T; Childhood Overgrowth Collaboration; Mahamdallie S, Seal S, Ruark E, Rahman N. Tatton-Brown K, et al. Among authors: loveday c. Am J Hum Genet. 2017 May 4;100(5):725-736. doi: 10.1016/j.ajhg.2017.03.010. Am J Hum Genet. 2017. PMID: 28475857 Free PMC article.
Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor.
Litchfield K, Levy M, Orlando G, Loveday C, Law PJ, Migliorini G, Holroyd A, Broderick P, Karlsson R, Haugen TB, Kristiansen W, Nsengimana J, Fenwick K, Assiotis I, Kote-Jarai Z, Dunning AM, Muir K, Peto J, Eeles R, Easton DF, Dudakia D, Orr N, Pashayan N; UK Testicular Cancer Collaboration; PRACTICAL Consortium; Bishop DT, Reid A, Huddart RA, Shipley J, Grotmol T, Wiklund F, Houlston RS, Turnbull C. Litchfield K, et al. Among authors: loveday c. Nat Genet. 2017 Jul;49(7):1133-1140. doi: 10.1038/ng.3896. Epub 2017 Jun 12. Nat Genet. 2017. PMID: 28604728 Free PMC article.
Validation of loci at 2q14.2 and 15q21.3 as risk factors for testicular cancer.
Loveday C, Litchfield K, Levy M, Holroyd A, Broderick P, Kote-Jarai Z, Dunning AM, Muir K, Peto J, Eeles R, Easton DF, Dudakia D, Orr N, Pashayan N, Reid A, Huddart RA, Houlston RS, Turnbull C. Loveday C, et al. Oncotarget. 2017 Dec 7;9(16):12630-12638. doi: 10.18632/oncotarget.23117. eCollection 2018 Feb 27. Oncotarget. 2017. PMID: 29560096 Free PMC article.
189 results