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Page 1
Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer.
Muranen TA, Khan S, Fagerholm R, Aittomäki K, Cunningham JM, Dennis J, Leslie G, McGuffog L, Parsons MT, Simard J, Slager S, Soucy P, Easton DF, Tischkowitz M, Spurdle AB; kConFab Investigators; Schmutzler RK, Wappenschmidt B, Hahnen E, Hooning MJ; HEBON Investigators; Singer CF, Wagner G, Thomassen M, Pedersen IS, Domchek SM, Nathanson KL, Lazaro C, Rossing CM, Andrulis IL, Teixeira MR, James P, Garber J, Weitzel JN; SWE-BRCA Investigators; Jakubowska A, Yannoukakos D, John EM, Southey MC, Schmidt MK, Antoniou AC, Chenevix-Trench G, Blomqvist C, Nevanlinna H. Muranen TA, et al. Among authors: yannoukakos d. NPJ Breast Cancer. 2020 Sep 10;6:44. doi: 10.1038/s41523-020-00185-6. eCollection 2020. NPJ Breast Cancer. 2020. PMID: 32964118 Free PMC article.
Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients.
Konstantopoulou I, Rampias T, Ladopoulou A, Koutsodontis G, Armaou S, Anagnostopoulos T, Nikolopoulos G, Kamakari S, Nounesis G, Stylianakis A, Karanikiotis C, Razis E, Gogas H, Keramopoulos A, Gaki V, Markopoulos C, Skarlos D, Pandis N, Bei T, Arzimanoglou I, Fountzilas G, Yannoukakos D. Konstantopoulou I, et al. Among authors: yannoukakos d. Breast Cancer Res Treat. 2008 Feb;107(3):431-41. doi: 10.1007/s10549-007-9571-2. Epub 2007 Apr 24. Breast Cancer Res Treat. 2008. PMID: 17453335
An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers.
Osorio A, Pollán M, Pita G, Schmutzler RK, Versmold B, Engel C, Meindl A, Arnold N, Preisler-Adams S, Niederacher D, Hofmann W, Gadzicki D, Jakubowska A, Hamann U, Lubinski J, Toloczko-Grabarek A, Cybulski C, Debniak T, Llort G, Yannoukakos D, Díez O, Peissel B, Peterlongo P, Radice P, Heikkinen T, Nevanlinna H, Mai PL, Loud JT, McGuffog L, Antoniou AC, Benitez J; CIMBA. Osorio A, et al. Among authors: yannoukakos d. Br J Cancer. 2008 Sep 16;99(6):974-7. doi: 10.1038/sj.bjc.6604624. Br J Cancer. 2008. PMID: 18781154 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: yannoukakos d. 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: yannoukakos d. 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, Peterlongo P, … See abstract for full author list ➔ Antoniou AC, et al. Among authors: yannoukakos d. 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.
On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations.
Hamel N, Feng BJ, Foretova L, Stoppa-Lyonnet D, Narod SA, Imyanitov E, Sinilnikova O, Tihomirova L, Lubinski J, Gronwald J, Gorski B, Hansen Tv, Nielsen FC, Thomassen M, Yannoukakos D, Konstantopoulou I, Zajac V, Ciernikova S, Couch FJ, Greenwood CM, Goldgar DE, Foulkes WD. Hamel N, et al. Among authors: yannoukakos d. Eur J Hum Genet. 2011 Mar;19(3):300-6. doi: 10.1038/ejhg.2010.203. Epub 2010 Dec 1. Eur J Hum Genet. 2011. PMID: 21119707 Free PMC article.
Common breast cancer susceptibility loci are associated with triple-negative breast cancer.
Stevens KN, Vachon CM, Lee AM, Slager S, Lesnick T, Olswold C, Fasching PA, Miron P, Eccles D, Carpenter JE, Godwin AK, Ambrosone C, Winqvist R, Brauch H; GENICA consortium; Schmidt MK, Cox A, Cross SS, Sawyer E, Hartmann A, Beckmann MW, Schulz-Wendtland R, Ekici AB, Tapper WJ, Gerty SM, Durcan L, Graham N, Hein R, Nickels S, Flesch-Janys D, Heinz J, Sinn HP, Konstantopoulou I, Fostira F, Pectasides D, Dimopoulos AM, Fountzilas G, Clarke CL, Balleine R, Olson JE, Fredericksen Z, Diasio RB, Pathak H, Ross E, Weaver J, Rüdiger T, Försti A, Dünnebier T, Ademuyiwa F, Kulkarni S, Pylkäs K, Jukkola-Vuorinen A, Ko YD, Van Limbergen E, Janssen H, Peto J, Fletcher O, Giles GG, Baglietto L, Verhoef S, Tomlinson I, Kosma VM, Beesley J, Greco D, Blomqvist C, Irwanto A, Liu J, Blows FM, Dawson SJ, Margolin S, Mannermaa A, Martin NG, Montgomery GW, Lambrechts D, dos Santos Silva I, Severi G, Hamann U, Pharoah P, Easton DF, Chang-Claude J, Yannoukakos D, Nevanlinna H, Wang X, Couch FJ. Stevens KN, et al. Among authors: yannoukakos d. Cancer Res. 2011 Oct 1;71(19):6240-9. doi: 10.1158/0008-5472.CAN-11-1266. Epub 2011 Aug 15. Cancer Res. 2011. PMID: 21844186 Free PMC article.
A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer.
Haiman CA, Chen GK, Vachon CM, Canzian F, Dunning A, Millikan RC, Wang X, Ademuyiwa F, Ahmed S, Ambrosone CB, Baglietto L, Balleine R, Bandera EV, Beckmann MW, Berg CD, Bernstein L, Blomqvist C, Blot WJ, Brauch H, Buring JE, Carey LA, Carpenter JE, Chang-Claude J, Chanock SJ, Chasman DI, Clarke CL, Cox A, Cross SS, Deming SL, Diasio RB, Dimopoulos AM, Driver WR, Dünnebier T, Durcan L, Eccles D, Edlund CK, Ekici AB, Fasching PA, Feigelson HS, Flesch-Janys D, Fostira F, Försti A, Fountzilas G, Gerty SM; Gene Environment Interaction and Breast Cancer in Germany (GENICA) Consortium; Giles GG, Godwin AK, Goodfellow P, Graham N, Greco D, Hamann U, Hankinson SE, Hartmann A, Hein R, Heinz J, Holbrook A, Hoover RN, Hu JJ, Hunter DJ, Ingles SA, Irwanto A, Ivanovich J, John EM, Johnson N, Jukkola-Vuorinen A, Kaaks R, Ko YD, Kolonel LN, Konstantopoulou I, Kosma VM, Kulkarni S, Lambrechts D, Lee AM, Marchand LL, Lesnick T, Liu J, Lindstrom S, Mannermaa A, Margolin S, Martin NG, Miron P, Montgomery GW, Nevanlinna H, Nickels S, Nyante S, Olswold C, Palmer J, Pathak H, Pectasides D, Perou CM, Peto J, Pharoah PD, Pooler LC, Press MF, Pylkäs K, Rebbeck TR, Rodriguez-Gil JL, Rosenberg L, Ross E, Rüd… See abstract for full author list ➔ Haiman CA, et al. Among authors: yannoukakos d. Nat Genet. 2011 Oct 30;43(12):1210-4. doi: 10.1038/ng.985. Nat Genet. 2011. PMID: 22037553 Free PMC article.
19p13.1 is a triple-negative-specific breast cancer susceptibility locus.
Stevens KN, Fredericksen Z, Vachon CM, Wang X, Margolin S, Lindblom A, Nevanlinna H, Greco D, Aittomäki K, Blomqvist C, Chang-Claude J, Vrieling A, Flesch-Janys D, Sinn HP, Wang-Gohrke S, Nickels S, Brauch H; GENICA Network; Ko YD, Fischer HP, Schmutzler RK, Meindl A, Bartram CR, Schott S, Engel C, Godwin AK, Weaver J, Pathak HB, Sharma P, Brenner H, Müller H, Arndt V, Stegmaier C, Miron P, Yannoukakos D, Stavropoulou A, Fountzilas G, Gogas HJ, Swann R, Dwek M, Perkins A, Milne RL, Benítez J, Zamora MP, Pérez JI, Bojesen SE, Nielsen SF, Nordestgaard BG, Flyger H, Guénel P, Truong T, Menegaux F, Cordina-Duverger E, Burwinkel B, Marmé F, Schneeweiss A, Sohn C, Sawyer E, Tomlinson I, Kerin MJ, Peto J, Johnson N, Fletcher O, Dos Santos Silva I, Fasching PA, Beckmann MW, Hartmann A, Ekici AB, Lophatananon A, Muir K, Puttawibul P, Wiangnon S, Schmidt MK, Broeks A, Braaf LM, Rosenberg EH, Hopper JL, Apicella C, Park DJ, Southey MC, Swerdlow AJ, Ashworth A, Orr N, Schoemaker MJ, Anton-Culver H, Ziogas A, Bernstein L, Dur CC, Shen CY, Yu JC, Hsu HM, Hsiung CN, Hamann U, Dünnebier T, Rüdiger T, Ulmer HU, Pharoah PP, Dunning AM, Humphreys MK, Wang Q, Cox A, Cross SS, Reed MW, Hall P, … See abstract for full author list ➔ Stevens KN, et al. Among authors: yannoukakos d. Cancer Res. 2012 Apr 1;72(7):1795-803. doi: 10.1158/0008-5472.CAN-11-3364. Epub 2012 Feb 13. Cancer Res. 2012. PMID: 22331459 Free PMC article.
157 results