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Items: 6

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.

Nature. 2013 Jan 17;493(7432):406-10. doi: 10.1038/nature11725.

2.

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)..

Br J Cancer. 2012 Mar 13;106(6):1234-8. doi: 10.1038/bjc.2012.31.

3.

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.

Hum Mol Genet. 2012 Feb 15;21(4):958-62. doi: 10.1093/hmg/ddr525.

4.

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.

Nat Genet. 2011 Aug 7;43(9):879-82. doi: 10.1038/ng.893.

5.

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.

Breast Cancer Res Treat. 2010 Nov;124(1):283-8. doi: 10.1007/s10549-010-0949-1.

6.

22q11 deletion: a multisystem disorder requiring multidisciplinary input.

Greenhalgh KL, Aligianis IA, Bromilow G, Cox H, Hill C, Stait Y, Leech BJ, Lunt PW, Ellis M.

Arch Dis Child. 2003 Jun;88(6):523-4.

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