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Page 1
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants.
Barnes DR, Rookus MA, McGuffog L, Leslie G, Mooij TM, Dennis J, Mavaddat N, Adlard J, Ahmed M, Aittomäki K, Andrieu N, Andrulis IL, Arnold N, Arun BK, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Benitez J, Berthet P, Białkowska K, Blanco AM, Blok MJ, Bonanni B, Boonen SE, Borg Å, Bozsik A, Bradbury AR, Brennan P, Brewer C, Brunet J, Buys SS, Caldés T, Caligo MA, Campbell I, Christensen LL, Chung WK, Claes KBM, Colas C; GEMO Study Collaborators; EMBRACE Collaborators; Collonge-Rame MA, Cook J, Daly MB, Davidson R, de la Hoya M, de Putter R, Delnatte C, Devilee P, Diez O, Ding YC, Domchek SM, Dorfling CM, Dumont M, Eeles R, Ejlertsen B, Engel C, Evans DG, Faivre L, Foretova L, Fostira F, Friedlander M, Friedman E, Frost D, Ganz PA, Garber J, Gehrig A, Gerdes AM, Gesta P, Giraud S, Glendon G, Godwin AK, Goldgar DE, González-Neira A, Greene MH, Gschwantler-Kaulich D, Hahnen E, Hamann U, Hanson H, Hentschel J, Hogervorst FBL, Hooning MJ, Horvath J, Hu C, Hulick PJ, Imyanitov EN; kConFab Investigators; HEBON Investigators; GENEPSO Investigators; Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James PA, Janavicius R, John EM, Joseph V, Karlan BY, Kast K, Koudijs M, Kruse … See abstract for full author list ➔ Barnes DR, et al. Among authors: colas c. Genet Med. 2020 Oct;22(10):1653-1666. doi: 10.1038/s41436-020-0862-x. Epub 2020 Jul 15. Genet Med. 2020. PMID: 32665703 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 TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers.
Sinilnikova OM, Antoniou AC, Simard J, Healey S, Léoné M, Sinnett D, Spurdle AB, Beesley J, Chen X; kConFab; Greene MH, Loud JT, Lejbkowicz F, Rennert G, Dishon S, Andrulis IL; OCGN; Domchek SM, Nathanson KL, Manoukian S, Radice P, Konstantopoulou I, Blanco I, Laborde AL, Durán M, Osorio A, Benitez J, Hamann U, Hogervorst FB, van Os TA, Gille HJ; HEBON; Peock S, Cook M, Luccarini C, Evans DG, Lalloo F, Eeles R, Pichert G, Davidson R, Cole T, Cook J, Paterson J, Brewer C; EMBRACE; Hughes DJ, Coupier I, Giraud S, Coulet F, Colas C, Soubrier F, Rouleau E, Bièche I, Lidereau R, Demange L, Nogues C, Lynch HT; GEMO; Schmutzler RK, Versmold B, Engel C, Meindl A, Arnold N, Sutter C, Deissler H, Schaefer D, Froster UG; GC-HBOC; Aittomäki K, Nevanlinna H, McGuffog L, Easton DF, Chenevix-Trench G, Stoppa-Lyonnet D; Consortium of Investigators of Modifiers of BRCA1/2. Sinilnikova OM, et al. Among authors: colas c. Br J Cancer. 2009 Oct 20;101(8):1456-60. doi: 10.1038/sj.bjc.6605279. Epub 2009 Aug 25. Br J Cancer. 2009. PMID: 19707196 Free PMC article.
Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA).
Osorio A, Milne RL, Pita G, Peterlongo P, Heikkinen T, Simard J, Chenevix-Trench G, Spurdle AB, Beesley J, Chen X, Healey S; KConFab; Neuhausen SL, Ding YC, Couch FJ, Wang X, Lindor N, Manoukian S, Barile M, Viel A, Tizzoni L, Szabo CI, Foretova L, Zikan M, Claes K, Greene MH, Mai P, Rennert G, Lejbkowicz F, Barnett-Griness O, Andrulis IL, Ozcelik H, Weerasooriya N; OCGN; Gerdes AM, Thomassen M, Cruger DG, Caligo MA, Friedman E, Kaufman B, Laitman Y, Cohen S, Kontorovich T, Gershoni-Baruch R, Dagan E, Jernström H, Askmalm MS, Arver B, Malmer B; SWE-BRCA; Domchek SM, Nathanson KL, Brunet J, Ramón Y Cajal T, Yannoukakos D, Hamann U; HEBON; Hogervorst FB, Verhoef S, Gómez García EB, Wijnen JT, van den Ouweland A; EMBRACE; Easton DF, Peock S, Cook M, Oliver CT, Frost D, Luccarini C, Evans DG, Lalloo F, Eeles R, Pichert G, Cook J, Hodgson S, Morrison PJ, Douglas F, Godwin AK; GEMO; Sinilnikova OM, Barjhoux L, Stoppa-Lyonnet D, Moncoutier V, Giraud S, Cassini C, Olivier-Faivre L, Révillion F, Peyrat JP, Muller D, Fricker JP, Lynch HT, John EM, Buys S, Daly M, Hopper JL, Terry MB, Miron A, Yassin Y, Goldgar D; Breast Cancer Family Registry; Singer CF, Gschwantler-Kaulich D, Pfeiler G, Sp… See abstract for full author list ➔ Osorio A, et al. Br J Cancer. 2009 Dec 15;101(12):2048-54. doi: 10.1038/sj.bjc.6605416. Epub 2009 Nov 17. Br J Cancer. 2009. PMID: 19920816 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.
Leiden Open Variation Database of the MUTYH gene.
Out AA, Tops CM, Nielsen M, Weiss MM, van Minderhout IJ, Fokkema IF, Buisine MP, Claes K, Colas C, Fodde R, Fostira F, Franken PF, Gaustadnes M, Heinimann K, Hodgson SV, Hogervorst FB, Holinski-Feder E, Lagerstedt-Robinson K, Olschwang S, van den Ouweland AM, Redeker EJ, Scott RJ, Vankeirsbilck B, Grønlund RV, Wijnen JT, Wikman FP, Aretz S, Sampson JR, Devilee P, den Dunnen JT, Hes FJ. Out AA, et al. Among authors: colas c. Hum Mutat. 2010 Nov;31(11):1205-15. doi: 10.1002/humu.21343. Hum Mutat. 2010. PMID: 20725929
A one-step prescreening for point mutations and large rearrangement in BRCA1 and BRCA2 genes using quantitative polymerase chain reaction and high-resolution melting curve analysis.
Coulet F, Pires F, Rouleau E, Lefol C, Martin S, Colas C, Cohen-Haguenauer O, Giurgea I, Fajac A, Noguès C, Demange L, Hardouin A, Lidereau R, Soubrier F. Coulet F, et al. Among authors: colas c. Genet Test Mol Biomarkers. 2010 Oct;14(5):677-90. doi: 10.1089/gtmb.2009.0183. Epub 2010 Sep 21. Genet Test Mol Biomarkers. 2010. PMID: 20858050
Common genetic variants and modification of penetrance of BRCA2-associated breast cancer.
Gaudet MM, Kirchhoff T, Green T, Vijai J, Korn JM, Guiducci C, Segrè AV, McGee K, McGuffog L, Kartsonaki C, Morrison J, Healey S, Sinilnikova OM, Stoppa-Lyonnet D, Mazoyer S, Gauthier-Villars M, Sobol H, Longy M, Frenay M, GEMO Study Collaborators, Hogervorst FB, Rookus MA, Collée JM, Hoogerbrugge N, van Roozendaal KE; HEBON Study Collaborators; Piedmonte M, Rubinstein W, Nerenstone S, Van Le L, Blank SV, Caldés T, de la Hoya M, Nevanlinna H, Aittomäki K, Lazaro C, Blanco I, Arason A, Johannsson OT, Barkardottir RB, Devilee P, Olopade OI, Neuhausen SL, Wang X, Fredericksen ZS, Peterlongo P, Manoukian S, Barile M, Viel A, Radice P, Phelan CM, Narod S, Rennert G, Lejbkowicz F, Flugelman A, Andrulis IL, Glendon G, Ozcelik H; OCGN; Toland AE, Montagna M, D'Andrea E, Friedman E, Laitman Y, Borg A, Beattie M, Ramus SJ, Domchek SM, Nathanson KL, Rebbeck T, Spurdle AB, Chen X, Holland H; kConFab; John EM, Hopper JL, Buys SS, Daly MB, Southey MC, Terry MB, Tung N, Overeem Hansen TV, Nielsen FC, Greene MH, Mai PL, Osorio A, Durán M, Andres R, Benítez J, Weitzel JN, Garber J, Hamann U; EMBRACE; Peock S, Cook M, Oliver C, Frost D, Platte R, Evans DG, Lalloo F, Eeles R, Izatt L, Walker L, Easo… See abstract for full author list ➔ Gaudet MM, et al. PLoS Genet. 2010 Oct 28;6(10):e1001183. doi: 10.1371/journal.pgen.1001183. PLoS Genet. 2010. PMID: 21060860 Free PMC article.
Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction.
Antoniou AC, Beesley J, McGuffog L, Sinilnikova OM, Healey S, Neuhausen SL, Ding YC, Rebbeck TR, Weitzel JN, Lynch HT, Isaacs C, Ganz PA, Tomlinson G, Olopade OI, Couch FJ, Wang X, Lindor NM, Pankratz VS, Radice P, Manoukian S, Peissel B, Zaffaroni D, Barile M, Viel A, Allavena A, Dall'Olio V, Peterlongo P, Szabo CI, Zikan M, Claes K, Poppe B, Foretova L, Mai PL, Greene MH, Rennert G, Lejbkowicz F, Glendon G, Ozcelik H, Andrulis IL; Ontario Cancer Genetics Network; Thomassen M, Gerdes AM, Sunde L, Cruger D, Birk Jensen U, Caligo M, Friedman E, Kaufman B, Laitman Y, Milgrom R, Dubrovsky M, Cohen S, Borg A, Jernström H, Lindblom A, Rantala J, Stenmark-Askmalm M, Melin B; SWE-BRCA; Nathanson K, Domchek S, Jakubowska A, Lubinski J, Huzarski T, Osorio A, Lasa A, Durán M, Tejada MI, Godino J, Benitez J, Hamann U, Kriege M, Hoogerbrugge N, van der Luijt RB, van Asperen CJ, Devilee P, Meijers-Heijboer EJ, Blok MJ, Aalfs CM, Hogervorst F, Rookus M; HEBON; Cook M, Oliver C, Frost D, Conroy D, Evans DG, Lalloo F, Pichert G, Davidson R, Cole T, Cook J, Paterson J, Hodgson S, Morrison PJ, Porteous ME, Walker L, Kennedy MJ, Dorkins H, Peock S; EMBRACE; Godwin AK, Stoppa-Lyonnet D, de Pauw A, Ma… See abstract for full author list ➔ Antoniou AC, et al. Cancer Res. 2010 Dec 1;70(23):9742-54. doi: 10.1158/0008-5472.CAN-10-1907. Epub 2010 Nov 30. Cancer Res. 2010. PMID: 21118973 Free PMC article.
Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers.
Ramus SJ, Kartsonaki C, Gayther SA, Pharoah PD, Sinilnikova OM, Beesley J, Chen X, McGuffog L, Healey S, Couch FJ, Wang X, Fredericksen Z, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Roversi G, Barile M, Viel A, Allavena A, Ottini L, Papi L, Gismondi V, Capra F, Radice P, Greene MH, Mai PL, Andrulis IL, Glendon G, Ozcelik H; OCGN; Thomassen M, Gerdes AM, Kruse TA, Cruger D, Jensen UB, Caligo MA, Olsson H, Kristoffersson U, Lindblom A, Arver B, Karlsson P, Stenmark Askmalm M, Borg A, Neuhausen SL, Ding YC, Nathanson KL, Domchek SM, Jakubowska A, Lubiński J, Huzarski T, Byrski T, Gronwald J, Górski B, Cybulski C, Dębniak T, Osorio A, Durán M, Tejada MI, Benítez J, Hamann U, Rookus MA, Verhoef S, Tilanus-Linthorst MA, Vreeswijk MP, Bodmer D, Ausems MG, van Os TA, Asperen CJ, Blok MJ, Meijers-Heijboer HE; HEBON; EMBRACE; Peock S, Cook M, Oliver C, Frost D, Dunning AM, Evans DG, Eeles R, Pichert G, Cole T, Hodgson S, Brewer C, Morrison PJ, Porteous M, Kennedy MJ, Rogers MT, Side LE, Donaldson A, Gregory H, Godwin A, Stoppa-Lyonnet D, Moncoutier V, Castera L, Mazoyer S, Barjhoux L, Bonadona V, Leroux D, Faivre L, Lidereau R, Nogues C, Bignon YJ, Prieur F, Collonge-Rame MA, Venat-… See abstract for full author list ➔ Ramus SJ, et al. J Natl Cancer Inst. 2011 Jan 19;103(2):105-16. doi: 10.1093/jnci/djq494. Epub 2010 Dec 17. J Natl Cancer Inst. 2011. PMID: 21169536 Free PMC article.
365 results