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Page 1
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification.
Zanti M, O'Mahony DG, Parsons MT, Dorling L, Dennis J, Boddicker NJ, Chen W, Hu C, Naven M, Yiangou K, Ahearn TU, Ambrosone CB, Andrulis IL, Antoniou AC, Auer PL, Baynes C, Bodelon C, Bogdanova NV, Bojesen SE, Bolla MK, Brantley KD, Camp NJ, Campbell A, Castelao JE, Cessna MH, Chang-Claude J, Chen F, Chenevix-Trench G; NBCS Collaborators; Conroy DM, Czene K, De Nicolo A, Domchek SM, Dörk T, Dunning AM, Eliassen AH, Evans DG, Fasching PA, Figueroa JD, Flyger H, Gago-Dominguez M, García-Closas M, Glendon G, González-Neira A, Grassmann F, Hadjisavvas A, Haiman CA, Hamann U, Hart SN, Hartman MBA, Ho WK, Hodge JM, Hoppe R, Howell SJ; kConFab Investigators; Jakubowska A, Khusnutdinova EK, Ko YD, Kraft P, Kristensen VN, Lacey JV, Li J, Lim GH, Lindström S, Lophatananon A, Luccarini C, Mannermaa A, Martinez ME, Mavroudis D, Milne RL, Muir K, Nathanson KL, Nuñez-Torres R, Obi N, Olson JE, Palmer JR, Panayiotidis MI, Patel AV, Pharoah PDP, Polley EC, Rashid MU, Ruddy KJ, Saloustros E, Sawyer EJ, Schmidt MK, Southey MC, Tan VK, Teo SH, Teras LR, Torres D, Trentham-Dietz A, Truong T, Vachon CM, Wang Q, Weitzel JN, Yadav S, Yao S, Zirpoli GR, Cline MS, Devilee P, Tavtigian SV, Goldgar D… See abstract for full author list ➔ Zanti M, et al. Among authors: garcia closas m. medRxiv [Preprint]. 2024 Sep 4:2024.09.04.24313051. doi: 10.1101/2024.09.04.24313051. medRxiv. 2024. PMID: 39281752 Free PMC article. Preprint.
A common coding variant in CASP8 is associated with breast cancer risk.
Cox A, Dunning AM, Garcia-Closas M, Balasubramanian S, Reed MW, Pooley KA, Scollen S, Baynes C, Ponder BA, Chanock S, Lissowska J, Brinton L, Peplonska B, Southey MC, Hopper JL, McCredie MR, Giles GG, Fletcher O, Johnson N, dos Santos Silva I, Gibson L, Bojesen SE, Nordestgaard BG, Axelsson CK, Torres D, Hamann U, Justenhoven C, Brauch H, Chang-Claude J, Kropp S, Risch A, Wang-Gohrke S, Schürmann P, Bogdanova N, Dörk T, Fagerholm R, Aaltonen K, Blomqvist C, Nevanlinna H, Seal S, Renwick A, Stratton MR, Rahman N, Sangrajrang S, Hughes D, Odefrey F, Brennan P, Spurdle AB, Chenevix-Trench G; Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer; Beesley J, Mannermaa A, Hartikainen J, Kataja V, Kosma VM, Couch FJ, Olson JE, Goode EL, Broeks A, Schmidt MK, Hogervorst FB, Van't Veer LJ, Kang D, Yoo KY, Noh DY, Ahn SH, Wedrén S, Hall P, Low YL, Liu J, Milne RL, Ribas G, Gonzalez-Neira A, Benitez J, Sigurdson AJ, Stredrick DL, Alexander BH, Struewing JP, Pharoah PD, Easton DF; Breast Cancer Association Consortium. Cox A, et al. Nat Genet. 2007 Mar;39(3):352-8. doi: 10.1038/ng1981. Epub 2007 Feb 11. Nat Genet. 2007. PMID: 17293864
Genome-wide association study identifies novel breast cancer susceptibility loci.
Easton DF, Pooley KA, Dunning AM, Pharoah PD, Thompson D, Ballinger DG, Struewing JP, Morrison J, Field H, Luben R, Wareham N, Ahmed S, Healey CS, Bowman R; SEARCH collaborators; Meyer KB, Haiman CA, Kolonel LK, Henderson BE, Le Marchand L, Brennan P, Sangrajrang S, Gaborieau V, Odefrey F, Shen CY, Wu PE, Wang HC, Eccles D, Evans DG, Peto J, Fletcher O, Johnson N, Seal S, Stratton MR, Rahman N, Chenevix-Trench G, Bojesen SE, Nordestgaard BG, Axelsson CK, Garcia-Closas M, Brinton L, Chanock S, Lissowska J, Peplonska B, Nevanlinna H, Fagerholm R, Eerola H, Kang D, Yoo KY, Noh DY, Ahn SH, Hunter DJ, Hankinson SE, Cox DG, Hall P, Wedren S, Liu J, Low YL, Bogdanova N, Schürmann P, Dörk T, Tollenaar RA, Jacobi CE, Devilee P, Klijn JG, Sigurdson AJ, Doody MM, Alexander BH, Zhang J, Cox A, Brock IW, MacPherson G, Reed MW, Couch FJ, Goode EL, Olson JE, Meijers-Heijboer H, van den Ouweland A, Uitterlinden A, Rivadeneira F, Milne RL, Ribas G, Gonzalez-Neira A, Benitez J, Hopper JL, McCredie M, Southey M, Giles GG, Schroen C, Justenhoven C, Brauch H, Hamann U, Ko YD, Spurdle AB, Beesley J, Chen X; kConFab; AOCS Management Group; Mannermaa A, Kosma VM, Kataja V, Hartikainen J, Day NE, Cox DR, … See abstract for full author list ➔ Easton DF, et al. Nature. 2007 Jun 28;447(7148):1087-93. doi: 10.1038/nature05887. Nature. 2007. PMID: 17529967 Free PMC article.
Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics.
Garcia-Closas M, Hall P, Nevanlinna H, Pooley K, Morrison J, Richesson DA, Bojesen SE, Nordestgaard BG, Axelsson CK, Arias JI, Milne RL, Ribas G, González-Neira A, Benítez J, Zamora P, Brauch H, Justenhoven C, Hamann U, Ko YD, Bruening T, Haas S, Dörk T, Schürmann P, Hillemanns P, Bogdanova N, Bremer M, Karstens JH, Fagerholm R, Aaltonen K, Aittomäki K, von Smitten K, Blomqvist C, Mannermaa A, Uusitupa M, Eskelinen M, Tengström M, Kosma VM, Kataja V, Chenevix-Trench G, Spurdle AB, Beesley J, Chen X; Australian Ovarian Cancer Management Group; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer; Devilee P, van Asperen CJ, Jacobi CE, Tollenaar RA, Huijts PE, Klijn JG, Chang-Claude J, Kropp S, Slanger T, Flesch-Janys D, Mutschelknauss E, Salazar R, Wang-Gohrke S, Couch F, Goode EL, Olson JE, Vachon C, Fredericksen ZS, Giles GG, Baglietto L, Severi G, Hopper JL, English DR, Southey MC, Haiman CA, Henderson BE, Kolonel LN, Le Marchand L, Stram DO, Hunter DJ, Hankinson SE, Cox DG, Tamimi R, Kraft P, Sherman ME, Chanock SJ, Lissowska J, Brinton LA, Peplonska B, Klijn JG, Hooning MJ, Meijers-Heijboer H, Collee JM, van den Ouweland A, Uitterlinden AG, Liu J, L… See abstract for full author list ➔ Garcia-Closas M, et al. PLoS Genet. 2008 Apr 25;4(4):e1000054. doi: 10.1371/journal.pgen.1000054. PLoS Genet. 2008. PMID: 18437204 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.
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, Kumle M,… See abstract for full author list ➔ Ahmed S, et al. 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, Sigurdson AJ,… See abstract for full author list ➔ Gaudet MM, et al. 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.
Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042.
Milne RL, Benítez J, Nevanlinna H, Heikkinen T, Aittomäki K, Blomqvist C, Arias JI, Zamora MP, Burwinkel B, Bartram CR, Meindl A, Schmutzler RK, Cox A, Brock I, Elliott G, Reed MW, Southey MC, Smith L, Spurdle AB, Hopper JL, Couch FJ, Olson JE, Wang X, Fredericksen Z, Schürmann P, Bremer M, Hillemanns P, Dörk T, Devilee P, van Asperen CJ, Tollenaar RA, Seynaeve C, Hall P, Czene K, Liu J, Li Y, Ahmed S, Dunning AM, Maranian M, Pharoah PD, Chenevix-Trench G, Beesley J; kConFab Investigators; AOCS Group; Bogdanova NV, Antonenkova NN, Zalutsky IV, Anton-Culver H, Ziogas A, Brauch H, Justenhoven C, Ko YD, Haas S, Fasching PA, Strick R, Ekici AB, Beckmann MW, Giles GG, Severi G, Baglietto L, English DR, Fletcher O, Johnson N, dos Santos Silva I, Peto J, Turnbull C, Hines S, Renwick A, Rahman N, Nordestgaard BG, Bojesen SE, Flyger H, Kang D, Yoo KY, Noh DY, Mannermaa A, Kataja V, Kosma VM, García-Closas M, Chanock S, Lissowska J, Brinton LA, Chang-Claude J, Wang-Gohrke S, Shen CY, Wang HC, Yu JC, Chen ST, Bermisheva M, Nikolaeva T, Khusnutdinova E, Humphreys MK, Morrison J, Platte R, Easton DF; Breast Cancer Association Consortium. Milne RL, et al. J Natl Cancer Inst. 2009 Jul 15;101(14):1012-8. doi: 10.1093/jnci/djp167. Epub 2009 Jun 30. J Natl Cancer Inst. 2009. PMID: 19567422 Free PMC article.
Association between a germline OCA2 polymorphism at chromosome 15q13.1 and estrogen receptor-negative breast cancer survival.
Azzato EM, Tyrer J, Fasching PA, Beckmann MW, Ekici AB, Schulz-Wendtland R, Bojesen SE, Nordestgaard BG, Flyger H, Milne RL, Arias JI, Menéndez P, Benítez J, Chang-Claude J, Hein R, Wang-Gohrke S, Nevanlinna H, Heikkinen T, Aittomäki K, Blomqvist C, Margolin S, Mannermaa A, Kosma VM, Kataja V; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer; Beesley J, Chen X, Chenevix-Trench G, Couch FJ, Olson JE, Fredericksen ZS, Wang X, Giles GG, Severi G, Baglietto L, Southey MC, Devilee P, Tollenaar RA, Seynaeve C, García-Closas M, Lissowska J, Sherman ME, Bolton KL, Hall P, Czene K, Cox A, Brock IW, Elliott GC, Reed MW, Greenberg D, Anton-Culver H, Ziogas A, Humphreys M, Easton DF, Caporaso NE, Pharoah PD. Azzato EM, et al. J Natl Cancer Inst. 2010 May 5;102(9):650-62. doi: 10.1093/jnci/djq057. Epub 2010 Mar 22. J Natl Cancer Inst. 2010. PMID: 20308648 Free PMC article.
Genetic susceptibility to breast cancer.
Mavaddat N, Antoniou AC, Easton DF, Garcia-Closas M. Mavaddat N, et al. Mol Oncol. 2010 Jun;4(3):174-91. doi: 10.1016/j.molonc.2010.04.011. Epub 2010 May 21. Mol Oncol. 2010. PMID: 20542480 Free PMC article. Review.
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