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Page 1
Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.
Caputo SM, Léone M, Damiola F, Ehlen A, Carreira A, Gaidrat P, Martins A, Brandão RD, Peixoto A, Vega A, Houdayer C, Delnatte C, Bronner M, Muller D, Castera L, Guillaud-Bataille M, Søkilde I, Uhrhammer N, Demontety S, Tubeuf H, Castelain G; French COVAR group collaborators; Jensen UB, Petitalot A, Krieger S, Lefol C, Moncoutier V, Boutry-Kryza N, Nielsen HR, Sinilnikova O, Stoppa-Lyonnet D, Spurdle AB, Teixeira MR, Coulet F, Thomassen M, Rouleau E. Caputo SM, et al. Among authors: thomassen m. Oncotarget. 2018 Apr 3;9(25):17334-17348. doi: 10.18632/oncotarget.24671. eCollection 2018 Apr 3. Oncotarget. 2018. PMID: 29707112 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 M… See abstract for full author list ➔ Antoniou AC, et al. Among authors: thomassen m. 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.
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, Pfeile… See abstract for full author list ➔ Osorio A, et al. Among authors: thomassen m. 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.
International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation.
Peixoto A, Santos C, Pinheiro M, Pinto P, Soares MJ, Rocha P, Gusmão L, Amorim A, van der Hout A, Gerdes AM, Thomassen M, Kruse TA, Cruger D, Sunde L, Bignon YJ, Uhrhammer N, Cornil L, Rouleau E, Lidereau R, Yannoukakos D, Pertesi M, Narod S, Royer R, Costa MM, Lazaro C, Feliubadaló L, Graña B, Blanco I, de la Hoya M, Caldés T, Maillet P, Benais-Pont G, Pardo B, Laitman Y, Friedman E, Velasco EA, Durán M, Miramar MD, Valle AR, Calvo MT, Vega A, Blanco A, Diez O, Gutiérrez-Enríquez S, Balmaña J, Ramon y Cajal T, Alonso C, Baiget M, Foulkes W, Tischkowitz M, Kyle R, Sabbaghian N, Ashton-Prolla P, Ewald IP, Rajkumar T, Mota-Vieira L, Giannini G, Gulino A, Achatz MI, Carraro DM, de Paillerets BB, Remenieras A, Benson C, Casadei S, King MC, Teugels E, Teixeira MR. Peixoto A, et al. Among authors: thomassen m. Breast Cancer Res Treat. 2011 Jun;127(3):671-9. doi: 10.1007/s10549-010-1036-3. Epub 2010 Jul 22. Breast Cancer Res Treat. 2011. PMID: 20652400 Free article.
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.
Antoniou AC, Wang X, Fredericksen ZS, McGuffog L, Tarrell R, Sinilnikova OM, Healey S, Morrison J, Kartsonaki C, Lesnick T, Ghoussaini M, Barrowdale D; EMBRACE; Peock S, Cook M, Oliver C, Frost D, Eccles D, Evans DG, Eeles R, Izatt L, Chu C, Douglas F, Paterson J, Stoppa-Lyonnet D, Houdayer C, Mazoyer S, Giraud S, Lasset C, Remenieras A, Caron O, Hardouin A, Berthet P; GEMO Study Collaborators; Hogervorst FB, Rookus MA, Jager A, van den Ouweland A, Hoogerbrugge N, van der Luijt RB, Meijers-Heijboer H, Gómez García EB; HEBON; Devilee P, Vreeswijk MP, Lubinski J, Jakubowska A, Gronwald J, Huzarski T, Byrski T, Górski B, Cybulski C, Spurdle AB, Holland H; kConFab; Goldgar DE, John EM, Hopper JL, Southey M, Buys SS, Daly MB, Terry MB, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Preisler-Adams S, Arnold N, Niederacher D, Sutter C, Domchek SM, Nathanson KL, Rebbeck T, Blum JL, Piedmonte M, Rodriguez GC, Wakeley K, Boggess JF, Basil J, Blank SV, Friedman E, Kaufman B, Laitman Y, Milgrom R, Andrulis IL, Glendon G, Ozcelik H, Kirchhoff T, Vijai J, Gaudet MM, Altshuler D, Guiducci C; SWE-BRCA; Loman N, Harbst K, Rantala J, Ehrencrona H, Gerdes AM, Thomassen M, Sunde L, Peterlo… See abstract for full author list ➔ Antoniou AC, et al. Among authors: thomassen m. Nat Genet. 2010 Oct;42(10):885-92. doi: 10.1038/ng.669. Epub 2010 Sep 19. Nat Genet. 2010. PMID: 20852631 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 Pau… See abstract for full author list ➔ Antoniou AC, et al. Among authors: thomassen m. 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,… See abstract for full author list ➔ Ramus SJ, et al. Among authors: thomassen m. 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.
Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers.
Spurdle AB, Marquart L, McGuffog L, Healey S, Sinilnikova O, Wan F, Chen X, Beesley J, Singer CF, Dressler AC, Gschwantler-Kaulich D, Blum JL, Tung N, Weitzel J, Lynch H, Garber J, Easton DF, Peock S, Cook M, Oliver CT, Frost D, Conroy D, Evans DG, Lalloo F, Eeles R, Izatt L, Davidson R, Chu C, Eccles D, Selkirk CG, Daly M, Isaacs C, Stoppa-Lyonnet D, Sinilnikova OM, Buecher B, Belotti M, Mazoyer S, Barjhoux L, Verny-Pierre C, Lasset C, Dreyfus H, Pujol P, Collonge-Rame MA; GEMO Study Collaborators; Rookus MA, Verhoef S, Kriege M, Hoogerbrugge N, Ausems MG, van Os TA, Wijnen J, Devilee P, Meijers-Heijboer HE, Blok MJ, Heikkinen T, Nevanlinna H, Jakubowska A, Lubinski J, Huzarski T, Byrski T, Durocher F, Couch FJ, Lindor NM, Wang X, Thomassen M, Domchek S, Nathanson K, Caligo M, Jernström H, Liljegren A, Ehrencrona H, Karlsson P; SWE-BRCA; Ganz PA, Olopade OI, Tomlinson G, Neuhausen S, Antoniou AC, Chenevix-Trench G, Rebbeck TR. Spurdle AB, et al. Among authors: thomassen m. Cancer Epidemiol Biomarkers Prev. 2011 May;20(5):1032-8. doi: 10.1158/1055-9965.EPI-10-0909. Epub 2011 Mar 10. Cancer Epidemiol Biomarkers Prev. 2011. PMID: 21393566 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, Co… See abstract for full author list ➔ Antoniou AC, et al. Among authors: thomassen m. 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.
Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.
Thomassen M, Blanco A, Montagna M, Hansen TV, Pedersen IS, Gutiérrez-Enríquez S, Menéndez M, Fachal L, Santamariña M, Steffensen AY, Jønson L, Agata S, Whiley P, Tognazzo S, Tornero E, Jensen UB, Balmaña J, Kruse TA, Goldgar DE, Lázaro C, Diez O, Spurdle AB, Vega A. Thomassen M, et al. Breast Cancer Res Treat. 2012 Apr;132(3):1009-23. doi: 10.1007/s10549-011-1674-0. Epub 2011 Jul 19. Breast Cancer Res Treat. 2012. PMID: 21769658
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