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Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network.
Garrett A, Callaway A, Durkie M, Cubuk C, Alikian M, Burghel GJ, Robinson R, Izatt L, Talukdar S, Side L, Cranston T, Palmer-Smith S, Baralle D, Berry IR, Drummond J, Wallace AJ, Norbury G, Eccles DM, Ellard S, Lalloo F, Evans DG, Woodward E, Tischkowitz M, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. Among authors: side l. J Med Genet. 2020 Dec;57(12):829-834. doi: 10.1136/jmedgenet-2019-106759. Epub 2020 Mar 13. J Med Genet. 2020. PMID: 32170000 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. Nat Genet. 2008 Jan;40(1):26-8. doi: 10.1038/ng.2007.41. Epub 2007 Dec 16. Nat Genet. 2008. PMID: 18084292
Deciphering the genetics of hereditary non-syndromic colorectal cancer.
Papaemmanuil E, Carvajal-Carmona L, Sellick GS, Kemp Z, Webb E, Spain S, Sullivan K, Barclay E, Lubbe S, Jaeger E, Vijayakrishnan J, Broderick P, Gorman M, Martin L, Lucassen A, Bishop DT, Evans DG, Maher ER, Steinke V, Rahner N, Schackert HK, Goecke TO, Holinski-Feder E, Propping P, Van Wezel T, Wijnen J, Cazier JB, Thomas H, Houlston RS, Tomlinson I; CORGI Consortium. Papaemmanuil E, et al. Eur J Hum Genet. 2008 Dec;16(12):1477-86. doi: 10.1038/ejhg.2008.129. Epub 2008 Jul 16. Eur J Hum Genet. 2008. PMID: 18628789
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.
DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome.
Slade I, Bacchelli C, Davies H, Murray A, Abbaszadeh F, Hanks S, Barfoot R, Burke A, Chisholm J, Hewitt M, Jenkinson H, King D, Morland B, Pizer B, Prescott K, Saggar A, Side L, Traunecker H, Vaidya S, Ward P, Futreal PA, Vujanic G, Nicholson AG, Sebire N, Turnbull C, Priest JR, Pritchard-Jones K, Houlston R, Stiller C, Stratton MR, Douglas J, Rahman N. Slade I, et al. Among authors: side l. J Med Genet. 2011 Apr;48(4):273-8. doi: 10.1136/jmg.2010.083790. Epub 2011 Jan 25. J Med Genet. 2011. PMID: 21266384
Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2.
Osorio A, Milne RL, Alonso R, Pita G, Peterlongo P, Teulé A, Nathanson KL, Domchek SM, Rebbeck T, Lasa A, Konstantopoulou I, Hogervorst FB, Verhoef S, van Dooren MF, Jager A, Ausems MG, Aalfs CM, van Asperen CJ, Vreeswijk M, Waisfisz Q, Van Roozendaal CE, Ligtenberg MJ; HEBON; EMBRACE; Easton DF, Peock S, Cook M, Oliver CT, Frost D, Curzon B, Evans DG, Lalloo F, Eeles R, Izatt L, Davidson R, Adlard J, Eccles D, Ong KR, Douglas F, Downing S, Brewer C, Walker L, Nevanlinna H, Aittomäki K, Couch FJ, Fredericksen Z, Lindor NM, Godwin A, Isaacs C, Caligo MA, Loman N, Jernström H, Barbany-Bustinza G, Liljegren A, Ehrencrona H, Stenmark-Askmalm M; Sw E-BRCA; Feliubadaló L, Manoukian S, Peissel B, Zaffaroni D, Bonanni B, Fortuzzi S, Johannsson OT, Chenevix-Trench G, Chen XC, Beesley J, Spurdle AB; kConFab; Sinilnikova OM, Healey S, McGuffog L, Antoniou AC, Brunet J, Radice P, Benítez J; CIMBA. Osorio A, et al. Br J Cancer. 2011 Apr 12;104(8):1356-61. doi: 10.1038/bjc.2011.91. Epub 2011 Mar 22. Br J Cancer. 2011. PMID: 21427728 Free PMC article.
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers.
Antoniou AC, Kartsonaki C, Sinilnikova OM, Soucy P, McGuffog L, Healey S, Lee A, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Cattaneo E, Barile M, Pensotti V, Pasini B, Dolcetti R, Giannini G, Putignano AL, Varesco L, Radice P, Mai PL, Greene MH, Andrulis IL, Glendon G, Ozcelik H, Thomassen M, Gerdes AM, Kruse TA, Birk Jensen U, Crüger DG, Caligo MA, Laitman Y, Milgrom R, Kaufman B, Paluch-Shimon S, Friedman E, Loman N, Harbst K, Lindblom A, Arver B, Ehrencrona H, Melin B; SWE-BRCA; Nathanson KL, Domchek SM, Rebbeck T, Jakubowska A, Lubinski J, Gronwald J, Huzarski T, Byrski T, Cybulski C, Gorski B, Osorio A, Ramón y Cajal T, Fostira F, Andrés R, Benitez J, Hamann U, Hogervorst FB, Rookus MA, Hooning MJ, Nelen MR, van der Luijt RB, van Os TA, van Asperen CJ, Devilee P, Meijers-Heijboer HE, Gómez Garcia EB; HEBON; Peock S, Cook M, Frost D, Platte R, Leyland J, Evans DG, Lalloo F, Eeles R, Izatt L, Adlard J, Davidson R, Eccles D, Ong KR, Cook J, Douglas F, Paterson J, Kennedy MJ, Miedzybrodzka Z; EMBRACE; Godwin A, Stoppa-Lyonnet D, Buecher B, Belotti M, Tirapo C, Mazoyer S, Barjhoux L, Lasset C, Leroux D, Faivre L, Bronner M, Prieur F, Nogues C, Rouleau E, Pujol P, Coupier I… See abstract for full author list ➔ Antoniou AC, et al. Hum Mol Genet. 2011 Aug 15;20(16):3304-21. doi: 10.1093/hmg/ddr226. Epub 2011 May 18. Hum Mol Genet. 2011. PMID: 21593217 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.
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.
161 results