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Page 1
The impact of coding germline variants on contralateral breast cancer risk and survival.
Morra A, Mavaddat N, Muranen TA, Ahearn TU, Allen J, Andrulis IL, Auvinen P, Becher H, Behrens S, Blomqvist C, Bojesen SE, Bolla MK, Brauch H, Camp NJ, Carvalho S, Castelao JE, Cessna MH, Chang-Claude J, Chenevix-Trench G; NBCS Collaborators; Czene K, Decker B, Dennis J, Dörk T, Dorling L, Dunning AM, Ekici AB, Eriksson M, Evans DG, Fasching PA, Figueroa JD, Flyger H, Gago-Dominguez M, García-Closas M, Geurts-Giele WRR, Giles GG, Guénel P, Gündert M, Hahnen E, Hall P, Hamann U, Harrington PA, He W, Heikkilä P, Hooning MJ, Hoppe R, Howell A, Humphreys K; kConFab Investigators; Jakubowska A, Jung AY, Keeman R, Kristensen VN, Lubiński J, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Mavroudis D, Milne RL, Mulligan AM, Newman WG, Park-Simon TW, Peterlongo P, Pharoah PDP, Rhenius V, Saloustros E, Sawyer EJ, Schmutzler RK, Shah M, Spurdle AB, Tomlinson I, Truong T, van Veen EM, Vreeswijk MPG, Wang Q, Wendt C, Yang XR, Nevanlinna H, Devilee P, Easton DF, Schmidt MK. Morra A, et al. Among authors: schmutzler rk. Am J Hum Genet. 2023 Mar 2;110(3):475-486. doi: 10.1016/j.ajhg.2023.02.003. Epub 2023 Feb 23. Am J Hum Genet. 2023. PMID: 36827971 Free PMC article.
AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study.
Couch FJ, Sinilnikova O, Vierkant RA, Pankratz VS, Fredericksen ZS, Stoppa-Lyonnet D, Coupier I, Hughes D, Hardouin A, Berthet P, Peock S, Cook M, Baynes C, Hodgson S, Morrison PJ, Porteous ME, Jakubowska A, Lubinski J, Gronwald J, Spurdle AB; kConFab; Schmutzler R, Versmold B, Engel C, Meindl A, Sutter C, Horst J, Schaefer D, Offit K, Kirchhoff T, Andrulis IL, Ilyushik E, Glendon G, Devilee P, Vreeswijk MP, Vasen HF, Borg A, Backenhorn K, Struewing JP, Greene MH, Neuhausen SL, Rebbeck TR, Nathanson K, Domchek S, Wagner T, Garber JE, Szabo C, Zikan M, Foretova L, Olson JE, Sellers TA, Lindor N, Nevanlinna H, Tommiska J, Aittomaki K, Hamann U, Rashid MU, Torres D, Simard J, Durocher F, Guenard F, Lynch HT, Isaacs C, Weitzel J, Olopade OI, Narod S, Daly MB, Godwin AK, Tomlinson G, Easton DF, Chenevix-Trench G, Antoniou AC; Consortium of Investigators of Modifiers of BRCA1/2. Couch FJ, et al. Cancer Epidemiol Biomarkers Prev. 2007 Jul;16(7):1416-21. doi: 10.1158/1055-9965.EPI-07-0129. Cancer Epidemiol Biomarkers Prev. 2007. PMID: 17627006 Free PMC article.
The CASP8 -652 6N del promoter polymorphism and breast cancer risk: a multicenter study.
Frank B, Rigas SH, Bermejo JL, Wiestler M, Wagner K, Hemminki K, Reed MW, Sutter C, Wappenschmidt B, Balasubramanian SP, Meindl A, Kiechle M, Bugert P, Schmutzler RK, Bartram CR, Justenhoven C, Ko YD, Brüning T, Brauch H, Hamann U, Pharoah PP, Dunning AM, Pooley KA, Easton DF, Cox A, Burwinkel B. Frank B, et al. Among authors: schmutzler rk. Breast Cancer Res Treat. 2008 Sep;111(1):139-44. doi: 10.1007/s10549-007-9752-z. Epub 2007 Sep 21. Breast Cancer Res Treat. 2008. PMID: 17891485
Association of a common AKAP9 variant with breast cancer risk: a collaborative analysis.
Frank B, Wiestler M, Kropp S, Hemminki K, Spurdle AB, Sutter C, Wappenschmidt B, Chen X, Beesley J, Hopper JL; Australian Breast Cancer Family Study Investigators,; Meindl A, Kiechle M, Slanger T, Bugert P, Schmutzler RK, Bartram CR, Flesch-Janys D, Mutschelknauss E, Ashton K, Salazar R, Webb E, Hamann U, Brauch H, Justenhoven C, Ko YD, Brüning T, Silva Idos S, Johnson N, Pharoah PP, Dunning AM, Pooley KA, Chang-Claude J, Easton DF, Peto J, Houlston R; Gene Environment Interaction and Breast Cancer in Germany Group, Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer Investigators, Australian Ovarian Cancer Study Management Group; Chenevix-Trench G, Fletcher O, Burwinkel B. Frank B, et al. Among authors: schmutzler rk. J Natl Cancer Inst. 2008 Mar 19;100(6):437-42. doi: 10.1093/jnci/djn037. Epub 2008 Mar 11. J Natl Cancer Inst. 2008. PMID: 18334708
Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers.
Antoniou AC, Spurdle AB, Sinilnikova OM, Healey S, Pooley KA, Schmutzler RK, Versmold B, Engel C, Meindl A, Arnold N, Hofmann W, Sutter C, Niederacher D, Deissler H, Caldes T, Kämpjärvi K, Nevanlinna H, Simard J, Beesley J, Chen X; Kathleen Cuningham Consortium for Research into Familial Breast Cancer; Neuhausen SL, Rebbeck TR, Wagner T, Lynch HT, Isaacs C, Weitzel J, Ganz PA, Daly MB, Tomlinson G, Olopade OI, Blum JL, Couch FJ, Peterlongo P, Manoukian S, Barile M, Radice P, Szabo CI, Pereira LH, Greene MH, Rennert G, Lejbkowicz F, Barnett-Griness O, Andrulis IL, Ozcelik H; OCGN; Gerdes AM, Caligo MA, Laitman Y, Kaufman B, Milgrom R, Friedman E; Swedish BRCA1 and BRCA2 study collaborators; Domchek SM, Nathanson KL, Osorio A, Llort G, Milne RL, Benítez J, Hamann U, Hogervorst FB, Manders P, Ligtenberg MJ, van den Ouweland AM; DNA-HEBON collaborators; Peock S, Cook M, Platte R, Evans DG, Eeles R, Pichert G, Chu C, Eccles D, Davidson R, Douglas F; EMBRACE; Godwin AK, Barjhoux L, Mazoyer S, Sobol H, Bourdon V, Eisinger F, Chompret A, Capoulade C, Bressac-de Paillerets B, Lenoir GM, Gauthier-Villars M, Houdayer C, Stoppa-Lyonnet D; GEMO; Chenevix-Trench G, Easton DF; CIMBA. Antoniou AC, et al. Among authors: schmutzler rk. Am J Hum Genet. 2008 Apr;82(4):937-48. doi: 10.1016/j.ajhg.2008.02.008. Epub 2008 Mar 20. Am J Hum Genet. 2008. PMID: 18355772 Free PMC article.
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: schmutzler rk. 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.
Association of ESR1 gene tagging SNPs with breast cancer risk.
Dunning AM, Healey CS, Baynes C, Maia AT, Scollen S, Vega A, Rodríguez R, Barbosa-Morais NL, Ponder BA; SEARCH; Low YL, Bingham S; EPIC; Haiman CA, Le Marchand L; MEC; Broeks A, Schmidt MK; ABCS; Hopper J, Southey M; ABCFS; Beckmann MW, Fasching PA; BBCC; Peto J, Johnson N; BBCS; Bojesen SE, Nordestgaard B; CGPS; Milne RL, Benitez J; CNIO-BCS; Hamann U, Ko Y; GENICA; Schmutzler RK, Burwinkel B; GC-HBOC; Schürmann P, Dörk T; HABCS; Heikkinen T, Nevanlinna H; HEBCS; Lindblom A, Margolin S; KARBAC; Mannermaa A, Kosma VM; KBCS; Chen X, Spurdle A; kConFab and the AOCS Management Group; Change-Claude J, Flesch-Janys D; MARIE; Couch FJ, Olson JE; for MCBCS; Severi G, Baglietto L; MCCS; Børresen-Dale AL, Kristensen V; NBCS; Hunter DJ, Hankinson SE; NHS; Devilee P, Vreeswijk M; ORIGO; Lissowska J, Brinton L; PBCS; Liu J, Hall P; SASBAC; Kang D, Yoo KY; SEBCS; Shen CY, Yu JC; TWBCS; Anton-Culver H, Ziogoas A; UCIBCS; Sigurdson A, Struewing J; USRTS; Easton DF, Garcia-Closas M, Humphreys MK, Morrison J, Pharoah PD, Pooley KA, Chenevix-Trench G; BCAC. Dunning AM, et al. Among authors: schmutzler rk. Hum Mol Genet. 2009 Mar 15;18(6):1131-9. doi: 10.1093/hmg/ddn429. Epub 2009 Jan 6. Hum Mol Genet. 2009. PMID: 19126777 Free PMC article.
Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.
Ahmed S, Thomas G, Ghoussaini M, Healey CS, Humphreys MK, Platte R, Morrison J, Maranian M, Pooley KA, Luben R, Eccles D, Evans DG, Fletcher O, Johnson N, dos Santos Silva I, Peto J, Stratton MR, Rahman N, Jacobs K, Prentice R, Anderson GL, Rajkovic A, Curb JD, Ziegler RG, Berg CD, Buys SS, McCarty CA, Feigelson HS, Calle EE, Thun MJ, Diver WR, Bojesen S, Nordestgaard BG, Flyger H, Dörk T, Schürmann P, Hillemanns P, Karstens JH, Bogdanova NV, Antonenkova NN, Zalutsky IV, Bermisheva M, Fedorova S, Khusnutdinova E; SEARCH; Kang D, Yoo KY, Noh DY, Ahn SH, Devilee P, van Asperen CJ, Tollenaar RA, Seynaeve C, Garcia-Closas M, Lissowska J, Brinton L, Peplonska B, Nevanlinna H, Heikkinen T, Aittomäki K, Blomqvist C, Hopper JL, Southey MC, Smith L, Spurdle AB, Schmidt MK, Broeks A, van Hien RR, Cornelissen S, Milne RL, Ribas G, González-Neira A, Benitez J, Schmutzler RK, Burwinkel B, Bartram CR, Meindl A, Brauch H, Justenhoven C, Hamann U; GENICA Consortium; Chang-Claude J, Hein R, Wang-Gohrke S, Lindblom A, Margolin S, Mannermaa A, Kosma VM, Kataja V, Olson JE, Wang X, Fredericksen Z, Giles GG, Severi G, Baglietto L, English DR, Hankinson SE, Cox DG, Kraft P, Vatten LJ, Hveem K, K… See abstract for full author list ➔ Ahmed S, et al. Among authors: schmutzler rk. Nat Genet. 2009 May;41(5):585-90. doi: 10.1038/ng.354. Epub 2009 Mar 29. Nat Genet. 2009. PMID: 19330027 Free PMC article.
Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium.
Gaudet MM, Milne RL, Cox A, Camp NJ, Goode EL, Humphreys MK, Dunning AM, Morrison J, Giles GG, Severi G, Baglietto L, English DR, Couch FJ, Olson JE, Wang X, Chang-Claude J, Flesch-Janys D, Abbas S, Salazar R, Mannermaa A, Kataja V, Kosma VM, Lindblom A, Margolin S, Heikkinen T, Kämpjärvi K, Aaltonen K, Nevanlinna H, Bogdanova N, Coinac I, Schürmann P, Dörk T, Bartram CR, Schmutzler RK, Tchatchou S, Burwinkel B, Brauch H, Torres D, Hamann U, Justenhoven C, Ribas G, Arias JI, Benitez J, Bojesen SE, Nordestgaard BG, Flyger HL, Peto J, Fletcher O, Johnson N, Dos Santos Silva I, Fasching PA, Beckmann MW, Strick R, Ekici AB, Broeks A, Schmidt MK, van Leeuwen FE, Van't Veer LJ, Southey MC, Hopper JL, Apicella C, Haiman CA, Henderson BE, Le Marchand L, Kolonel LN, Kristensen V, Grenaker Alnaes G, Hunter DJ, Kraft P, Cox DG, Hankinson SE, Seynaeve C, Vreeswijk MP, Tollenaar RA, Devilee P, Chanock S, Lissowska J, Brinton L, Peplonska B, Czene K, Hall P, Li Y, Liu J, Balasubramanian S, Rafii S, Reed MW, Pooley KA, Conroy D, Baynes C, Kang D, Yoo KY, Noh DY, Ahn SH, Shen CY, Wang HC, Yu JC, Wu PE, Anton-Culver H, Ziogoas A, Egan K, Newcomb P, Titus-Ernstoff L, Trentham Dietz A, Sigurd… See abstract for full author list ➔ Gaudet MM, et al. Among authors: schmutzler rk. Cancer Epidemiol Biomarkers Prev. 2009 May;18(5):1610-6. doi: 10.1158/1055-9965.EPI-08-0745. Cancer Epidemiol Biomarkers Prev. 2009. PMID: 19423537 Free PMC article.
362 results