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Page 1
The BARCODE1 Pilot: a feasibility study of using germline single nucleotide polymorphisms to target prostate cancer screening.
Benafif S, Ni Raghallaigh H, McGrowder E, Saunders EJ, Brook MN, Saya S, Rageevakumar R, Wakerell S, James D, Chamberlain A, Taylor N, Hogben M, Benton B, D'Mello L, Myhill K, Mikropoulos C, Bowen-Perkins H, Rafi I, Ferris M, Beattie A, Kuganolipava S, Sevenoaks T, Bower J, Kumar P, Hazell S, deSouza NM, Antoniou A, Bancroft E, Kote-Jarai Z, Eeles R. Benafif S, et al. Among authors: d mello l. BJU Int. 2022 Mar;129(3):325-336. doi: 10.1111/bju.15535. Epub 2021 Aug 15. BJU Int. 2022. PMID: 34214236 Free PMC article.
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers.
Antoniou AC, Sinilnikova OM, McGuffog L, Healey S, Nevanlinna H, Heikkinen T, Simard J, Spurdle AB, Beesley J, Chen X; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer; Neuhausen SL, Ding YC, Couch FJ, Wang X, Fredericksen Z, Peterlongo P, Peissel B, Bonanni B, Viel A, Bernard L, Radice P, Szabo CI, Foretova L, Zikan M, Claes K, Greene MH, Mai PL, Rennert G, Lejbkowicz F, Andrulis IL, Ozcelik H, Glendon G; OCGN; Gerdes AM, Thomassen M, Sunde L, Caligo MA, Laitman Y, Kontorovich T, Cohen S, Kaufman B, Dagan E, Baruch RG, Friedman E, Harbst K, Barbany-Bustinza G, Rantala J, Ehrencrona H, Karlsson P, Domchek SM, Nathanson KL, Osorio A, Blanco I, Lasa A, Benítez J, Hamann U, Hogervorst FB, Rookus MA, Collee JM, Devilee P, Ligtenberg MJ, van der Luijt RB, Aalfs CM, Waisfisz Q, Wijnen J, van Roozendaal CE; HEBON; Peock S, Cook M, Frost D, Oliver C, Platte R, Evans DG, Lalloo F, Eeles R, Izatt L, Davidson R, Chu C, Eccles D, Cole T, Hodgson S; EMBRACE; Godwin AK, Stoppa-Lyonnet D, Buecher B, Léoné M, Bressac-de Paillerets B, Remenieras A, Caron O, Lenoir GM, Sevenet N, Longy M, Ferrer SF, Prieur F; GEMO; Goldgar D, Miron A, John EM, Buys SS, Daly MB, Hopp… See abstract for full author list ➔ Antoniou AC, et al. Hum Mol Genet. 2009 Nov 15;18(22):4442-56. doi: 10.1093/hmg/ddp372. Epub 2009 Aug 5. Hum Mol Genet. 2009. PMID: 19656774 Free PMC article.
The carrier clinic: an evaluation of a novel clinic dedicated to the follow-up of BRCA1 and BRCA2 carriers--implications for oncogenetics practice.
Bancroft EK, Locke I, Ardern-Jones A, D'Mello L, McReynolds K, Lennard F, Barbachano Y, Barwell J, Walker L, Mitchell G, Dorkins H, Cummings C, Paterson J, Kote-Jarai Z, Mitra A, Jhavar S, Thomas S, Houlston R, Shanley S, Eeles RA. Bancroft EK, et al. J Med Genet. 2010 Jul;47(7):486-91. doi: 10.1136/jmg.2009.072728. Epub 2010 May 14. J Med Genet. 2010. PMID: 20472659
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.
Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes.
Loveday C, Garrett A, Law P, Hanks S, Poyastro-Pearson E, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, 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, Walker L; Breast and Ovarian Cancer Susceptibility Collaboration; Eccles D, Evans DG, Snape K, Hanson H, Houlston RS, Turnbull C. Loveday C, et al. 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.
A PSA SNP associates with cellular function and clinical outcome in men with prostate cancer.
Srinivasan S, Kryza T, Bock N, Tse BWC, Sokolowski KA, Janaththani P, Fernando A, Moya L, Stephens C, Dong Y, Röhl J, Alinezhad S, Vela I, Perry-Keene JL, Buzacott K, Nica R; IMPACT Study; Gago-Dominguez M; PROFILE Study Steering Committee; Schleutker J, Maier C, Muir K, Tangen CM, Gronberg H, Pashayan N, Albanes D, Wolk A, Stanford JL, Berndt SI, Mucci LA, Koutros S, Cussenot O, Sorensen KD, Grindedal EM, Travis RC, Haiman CA, MacInnis RJ, Vega A, Wiklund F, Neal DE, Kogevinas M, Penney KL, Nordestgaard BG, Brenner H, John EM, Gamulin M, Claessens F, Melander O, Dahlin A, Stattin P, Hallmans G, Häggström C, Johansson R, Thysell E, Rönn AC, Li W, Brown N, Dimeski G, Shepherd B, Dadaev T, Brook MN, Spurdle AB, Stenman UH, Koistinen H, Kote-Jarai Z, Klein RJ, Lilja H, Ecker RC, Eeles R; Practical Consortium; Australian Prostate Cancer BioResource; Clements J, Batra J. Srinivasan S, et al. Nat Commun. 2024 Nov 6;15(1):9587. doi: 10.1038/s41467-024-52472-6. Nat Commun. 2024. PMID: 39505858 Free PMC article.
No evidence that GATA3 rs570613 SNP modifies breast cancer risk.
Johnatty SE, Couch FJ, Fredericksen Z, Tarrell R, Spurdle AB, Beesley J, Chen X; kConFab Investigators; AOCS Group; Swedish BRCA1 and BRCA2 Study Collaborators; Gschwantler-Kaulich D, Singer CF, Fuerhauser C, Fink-Retter A, Domchek SM, Nathanson KL, Pankratz VS, Lindor NM, Godwin AK, Caligo MA, Hopper J, Southey MC, Giles GG, Justenhoven C, Brauch H, Hamann U, Ko YD, Heikkinen T, Aaltonen K, Aittomäki K, Blomqvist C, Nevanlinna H, Hall P, Czene K, Liu J, Peock S, Cook M, Platte R, Gareth Evans D, Lalloo F, Eeles R, Pichert G, Eccles D, Davidson R, Cole T, Cook J, Douglas F, Chu C, Hodgson S, Paterson J, Hogervorst FB, Rookus MA, Seynaeve C, Wijnen J, Vreeswijk M, Ligtenberg M, van der Luijt RB, van Os TA, Gille HJ, Blok MJ; HEBON; Issacs C, Humphreys MK, McGuffog L, Healey S, Sinilnikova O, Antoniou AC, Easton DF, Chenevix-Trench G; Breast Cancer Association Consortium and Consortium of Investigators of Modifiers of BRCA1/2. Johnatty SE, et al. Breast Cancer Res Treat. 2009 Sep;117(2):371-9. doi: 10.1007/s10549-008-0257-1. Epub 2008 Dec 11. Breast Cancer Res Treat. 2009. PMID: 19082709 Free PMC article.
Pooled analysis indicates that the GSTT1 deletion, GSTM1 deletion, and GSTP1 Ile105Val polymorphisms do not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers.
Spurdle AB, Fahey P, Chen X, McGuffog L; kConFab; Easton D, Peock S, Cook M; EMBRACE; Simard J; INHERIT; Rebbeck TR; MAGIC; Antoniou AC, Chenevix-Trench G. Spurdle AB, et al. Breast Cancer Res Treat. 2010 Jul;122(1):281-5. doi: 10.1007/s10549-009-0601-0. Epub 2009 Nov 18. Breast Cancer Res Treat. 2010. PMID: 19921428 Free PMC article.
Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers.
Wang X, Pankratz VS, Fredericksen Z, Tarrell R, Karaus M, McGuffog L, Pharaoh PD, Ponder BA, Dunning AM, Peock S, Cook M, Oliver C, Frost D; EMBRACE; Sinilnikova OM, Stoppa-Lyonnet D, Mazoyer S, Houdayer C; GEMO; Hogervorst FB, Hooning MJ, Ligtenberg MJ; HEBON; Spurdle A, Chenevix-Trench G; kConFab; Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Domchek SM, Nathanson KL, Rebbeck TR, Singer CF, Gschwantler-Kaulich D, Dressler C, Fink A, Szabo CI, Zikan M, Foretova L, Claes K, Thomas G, Hoover RN, Hunter DJ, Chanock SJ, Easton DF, Antoniou AC, Couch FJ. Wang X, et al. Hum Mol Genet. 2010 Jul 15;19(14):2886-97. doi: 10.1093/hmg/ddq174. Epub 2010 Apr 23. Hum Mol Genet. 2010. PMID: 20418484 Free PMC article.
31 results