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Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes.
Ann Oncol. 2022 Dec;33(12):1318-1327. doi: 10.1016/j.annonc.2022.09.152. Epub 2022 Sep 17.
Ann Oncol. 2022.
PMID: 36122798
Free article.
British Society of Gastroenterology guidelines for the management of iron deficiency anaemia in adults.
Snook J, Bhala N, Beales ILP, Cannings D, Kightley C, Logan RP, Pritchard DM, Sidhu R, Surgenor S, Thomas W, Verma AM, Goddard AF.
Snook J, et al. Among authors: kightley c.
Gut. 2021 Nov;70(11):2030-2051. doi: 10.1136/gutjnl-2021-325210. Epub 2021 Sep 8.
Gut. 2021.
PMID: 34497146
Free PMC article.
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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.
Nature. 2013 Jan 17;493(7432):406-10. doi: 10.1038/nature11725. Epub 2012 Dec 16.
Nature. 2013.
PMID: 23242139
Free PMC article.
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BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years.
Robertson L, Hanson H, Seal S, Warren-Perry M, Hughes D, Howell I, Turnbull C, Houlston R, Shanley S, Butler S, Evans DG, Ross G, Eccles D, Tutt A, Rahman N; TNT Trial TMG; BCSC (UK).
Robertson L, et al.
Br J Cancer. 2012 Mar 13;106(6):1234-8. doi: 10.1038/bjc.2012.31. Epub 2012 Feb 14.
Br J Cancer. 2012.
PMID: 22333603
Free PMC article.
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Gene-gene interactions in breast cancer susceptibility.
Turnbull C, Seal S, Renwick A, Warren-Perry M, Hughes D, Elliott A, Pernet D, Peock S, 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), EMBRACE; Ahmed M, Eccles D, Evans DG, Donnelly P, Easton DF, Stratton MR, Rahman N.
Turnbull C, et al.
Hum Mol Genet. 2012 Feb 15;21(4):958-62. doi: 10.1093/hmg/ddr525. Epub 2011 Nov 9.
Hum Mol Genet. 2012.
PMID: 22072393
Free PMC article.
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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.
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Mutation and association analysis of GEN1 in breast cancer susceptibility.
Turnbull C, Hines S, Renwick A, Hughes D, Pernet D, Elliott A, Seal S, Warren-Perry M, Gareth Evans D, Eccles D; Breast Cancer Susceptibility Collaboration UK; Stratton MR, Rahman N.
Turnbull C, et al.
Breast Cancer Res Treat. 2010 Nov;124(1):283-8. doi: 10.1007/s10549-010-0949-1. Epub 2010 May 30.
Breast Cancer Res Treat. 2010.
PMID: 20512659
Free PMC article.
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Interstitial deletion of the short arm of chromosome 2 in a mother and child, with facial dysmorphism and mild learning difficulties.
Armstrong R, Ellis I, Kightley C, Sethi VD, McCarthy E, Maye U, White G.
Armstrong R, et al. Among authors: kightley c.
Clin Dysmorphol. 2006 Oct;15(4):221-223. doi: 10.1097/01.mcd.0000220620.85896.0f.
Clin Dysmorphol. 2006.
PMID: 16957477
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