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Page 1
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: vreeswijk mp. 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.
Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2.
Kirchhoff T, Gaudet MM, Antoniou AC, McGuffog L, Humphreys MK, Dunning AM, Bojesen SE, Nordestgaard BG, Flyger H, Kang D, Yoo KY, Noh DY, Ahn SH, Dork T, Schürmann P, Karstens JH, Hillemanns P, Couch FJ, Olson J, Vachon C, Wang X, Cox A, Brock I, Elliott G, Reed MW, Burwinkel B, Meindl A, Brauch H, Hamann U, Ko YD; GENICA Network; Broeks A, Schmidt MK, Van 't Veer LJ, Braaf LM, Johnson N, Fletcher O, Gibson L, Peto J, Turnbull C, Seal S, Renwick A, Rahman N, Wu PE, Yu JC, Hsiung CN, Shen CY, Southey MC, Hopper JL, Hammet F, Van Dorpe T, Dieudonne AS, Hatse S, Lambrechts D, Andrulis IL, Bogdanova N, Antonenkova N, Rogov JI, Prokofieva D, Bermisheva M, Khusnutdinova E, van Asperen CJ, Tollenaar RA, Hooning MJ, Devilee P, Margolin S, Lindblom A, Milne RL, Arias JI, Zamora MP, Benítez J, Severi G, Baglietto L, Giles GG; kConFab; AOCS Study Group; Spurdle AB, Beesley J, Chen X, Holland H, Healey S, Wang-Gohrke S, Chang-Claude J, Mannermaa A, Kosma VM, Kauppinen J, Kataja V, Agnarsson BA, Caligo MA, Godwin AK, Nevanlinna H, Heikkinen T, Fredericksen Z, Lindor N, Nathanson KL, Domchek SM; SWE-BRCA; Loman N, Karlsson P, Stenmark Askmalm M, Melin B, von Wachenfeldt A; HEBON; Hogervorst FB,… See abstract for full author list ➔ Kirchhoff T, et al. PLoS One. 2012;7(6):e35706. doi: 10.1371/journal.pone.0035706. Epub 2012 Jun 29. PLoS One. 2012. PMID: 22768030 Free PMC article.
Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.
Engel C, Versmold B, Wappenschmidt B, Simard J, Easton DF, Peock S, Cook M, Oliver C, Frost D, Mayes R, Evans DG, Eeles R, Paterson J, Brewer C; Epidemiological Study of Familial Breast Cancer (EMBRACE); McGuffog L, Antoniou AC, Stoppa-Lyonnet D, Sinilnikova OM, Barjhoux L, Frenay M, Michel C, Leroux D, Dreyfus H, Toulas C, Gladieff L, Uhrhammer N, Bignon YJ, Meindl A, Arnold N, Varon-Mateeva R, Niederacher D, Preisler-Adams S, Kast K, Deissler H, Sutter C, Gadzicki D, Chenevix-Trench G, Spurdle AB, Chen X, Beesley J; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab); Olsson H, Kristoffersson U, Ehrencrona H, Liljegren A; Swedish Breast Cancer Study, Sweden (SWE-BRCA); van der Luijt RB, van Os TA, van Leeuwen FE; Hereditary Breast and Ovarian cancer group Netherlands (HEBON); Domchek SM, Rebbeck TR, Nathanson KL, Osorio A, Ramón y Cajal T, Konstantopoulou I, Benítez J, Friedman E, Kaufman B, Laitman Y, Mai PL, Greene MH, Nevanlinna H, Aittomäki K, Szabo CI, Caldes T, Couch FJ, Andrulis IL, Godwin AK, Hamann U, Schmutzler RK; Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Engel C, et al. Cancer Epidemiol Biomarkers Prev. 2010 Nov;19(11):2859-68. doi: 10.1158/1055-9965.EPI-10-0517. Epub 2010 Oct 26. Cancer Epidemiol Biomarkers Prev. 2010. PMID: 20978178 Free PMC article.
BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.
Shimelis H, Mesman RLS, Von Nicolai C, Ehlen A, Guidugli L, Martin C, Calléja FMGR, Meeks H, Hallberg E, Hinton J, Lilyquist J, Hu C, Aalfs CM, Aittomäki K, Andrulis I, Anton-Culver H, Arndt V, Beckmann MW, Benitez J, Bogdanova NV, Bojesen SE, Bolla MK, Borresen-Dale AL, Brauch H, Brennan P, Brenner H, Broeks A, Brouwers B, Brüning T, Burwinkel B, Chang-Claude J, Chenevix-Trench G, Cheng CY, Choi JY, Collée JM, Cox A, Cross SS, Czene K, Darabi H, Dennis J, Dörk T, Dos-Santos-Silva I, Dunning AM, Fasching PA, Figueroa J, Flyger H, García-Closas M, Giles GG, Glendon G, Guénel P, Haiman CA, Hall P, Hamann U, Hartman M, Hogervorst FB, Hollestelle A, Hopper JL, Ito H, Jakubowska A, Kang D, Kosma VM, Kristensen V, Lai KN, Lambrechts D, Marchand LL, Li J, Lindblom A, Lophatananon A, Lubinski J, Machackova E, Mannermaa A, Margolin S, Marme F, Matsuo K, Miao H, Michailidou K, Milne RL, Muir K, Neuhausen SL, Nevanlinna H, Olson JE, Olswold C, Oosterwijk JJC, Osorio A, Peterlongo P, Peto J, Pharoah PDP, Pylkäs K, Radice P, Rashid MU, Rhenius V, Rudolph A, Sangrajrang S, Sawyer EJ, Schmidt MK, Schoemaker MJ, Seynaeve C, Shah M, Shen CY, Shrubsole M, Shu XO, Slager S, Southey MC, Stram DO, Swe… See abstract for full author list ➔ Shimelis H, et al. Cancer Res. 2017 Jun 1;77(11):2789-2799. doi: 10.1158/0008-5472.CAN-16-2568. Epub 2017 Mar 10. Cancer Res. 2017. PMID: 28283652 Free PMC article.
Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes.
Breast Cancer Association Consortium; Mavaddat N, Dorling L, Carvalho S, Allen J, González-Neira A, Keeman R, Bolla MK, Dennis J, Wang Q, Ahearn TU, Andrulis IL, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Blomqvist C, Bogdanova NV, Bojesen SE, Briceno I, Brüning T, Camp NJ, Campbell A, Castelao JE, Chang-Claude J, Chanock SJ, Chenevix-Trench G, Christiansen H, Czene K, Dörk T, Eriksson M, Evans DG, Fasching PA, Figueroa JD, Flyger H, Gabrielson M, Gago-Dominguez M, Geisler J, Giles GG, Guénel P, Hadjisavvas A, Hahnen E, Hall P, Hamann U, Hartikainen JM, Hartman M, Hoppe R, Howell A, Jakubowska A, Jung A, Khusnutdinova EK, Kristensen VN, Li J, Lim SH, Lindblom A, Loizidou MA, Lophatananon A, Lubinski J, Madsen MJ, Mannermaa A, Manoochehri M, Margolin S, Mavroudis D, Milne RL, Mohd Taib NA, Morra A, Muir K, Obi N, Osorio A, Park-Simon TW, Peterlongo P, Radice P, Saloustros E, Sawyer EJ, Schmutzler RK, Shah M, Sim X, Southey MC, Thorne H, Tomlinson I, Torres D, Truong T, Yip CH, Spurdle AB, Vreeswijk MPG, Dunning AM, García-Closas M, Pharoah PDP, Kvist A, Muranen TA, Nevanlinna H, Teo SH, Devilee P, Schmidt MK, Easton DF. Breast Cancer Association Consortium, et al. Among authors: vreeswijk mpg. JAMA Oncol. 2022 Mar 1;8(3):e216744. doi: 10.1001/jamaoncol.2021.6744. Epub 2022 Mar 17. JAMA Oncol. 2022. PMID: 35084436 Free PMC article.
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L, Carvalho S, Allen J, Parsons MT, Fortuno C, González-Neira A, Heijl SM, Adank MA, Ahearn TU, Andrulis IL, Auvinen P, Becher H, Beckmann MW, Behrens S, Bermisheva M, Bogdanova NV, Bojesen SE, Bolla MK, Bremer M, Briceno I, Camp NJ, Campbell A, Castelao JE, Chang-Claude J, Chanock SJ, Chenevix-Trench G; NBCS Collaborators; Collée JM, Czene K, Dennis J, Dörk T, Eriksson M, Evans DG, Fasching PA, Figueroa J, Flyger H, Gabrielson M, Gago-Dominguez M, García-Closas M, Giles GG, Glendon G, Guénel P, Gündert M, Hadjisavvas A, Hahnen E, Hall P, Hamann U, Harkness EF, Hartman M, Hogervorst FBL, Hollestelle A, Hoppe R, Howell A; kConFab Investigators; SGBCC Investigators; Jakubowska A, Jung A, Khusnutdinova E, Kim SW, Ko YD, Kristensen VN, Lakeman IMM, Li J, Lindblom A, Loizidou MA, Lophatananon A, Lubiński J, Luccarini C, Madsen MJ, Mannermaa A, Manoochehri M, Margolin S, Mavroudis D, Milne RL, Mohd Taib NA, Muir K, Nevanlinna H, Newman WG, Oosterwijk JC, Park SK, Peterlongo P, Radice P, Saloustros E, Sawyer EJ, Schmutzler RK, Shah M, Sim X, Southey MC, Surowy H, Suvanto M, Tomlinson I, Torres D, Truong T, van Asperen CJ, Waltes R, Wang Q, Yang XR, Pharoah PDP, Schmidt MK, Benite… See abstract for full author list ➔ Dorling L, et al. Among authors: vreeswijk mpg. Genome Med. 2022 May 18;14(1):51. doi: 10.1186/s13073-022-01052-8. Genome Med. 2022. PMID: 35585550 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.
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. 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.
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. Among authors: vreeswijk mp. 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.
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: vreeswijk mp. 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.
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