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Page 1
Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
Vigorito E, Kuchenbaecker KB, Beesley J, Adlard J, Agnarsson BA, Andrulis IL, Arun BK, Barjhoux L, Belotti M, Benitez J, Berger A, Bojesen A, Bonanni B, Brewer C, Caldes T, Caligo MA, Campbell I, Chan SB, Claes KB, Cohn DE, Cook J, Daly MB, Damiola F, Davidson R, Pauw Ad, Delnatte C, Diez O, Domchek SM, Dumont M, Durda K, Dworniczak B, Easton DF, Eccles D, Edwinsdotter Ardnor C, Eeles R, Ejlertsen B, Ellis S, Evans DG, Feliubadalo L, Fostira F, Foulkes WD, Friedman E, Frost D, Gaddam P, Ganz PA, Garber J, Garcia-Barberan V, Gauthier-Villars M, Gehrig A, Gerdes AM, Giraud S, Godwin AK, Goldgar DE, Hake CR, Hansen TV, Healey S, Hodgson S, Hogervorst FB, Houdayer C, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Izquierdo A, Jacobs L, Jakubowska A, Janavicius R, Jaworska-Bieniek K, Jensen UB, John EM, Vijai J, Karlan BY, Kast K; KConFab Investigators; Khan S, Kwong A, Laitman Y, Lester J, Lesueur F, Liljegren A, Lubinski J, Mai PL, Manoukian S, Mazoyer S, Meindl A, Mensenkamp AR, Montagna M, Nathanson KL, Neuhausen SL, Nevanlinna H, Niederacher D, Olah E, Olopade OI, Ong KR, Osorio A, Park SK, Paulsson-Karlsson Y, Pedersen IS, Peissel B, Peterlongo P, Pfeiler G, Phelan CM, Piedmo… See abstract for full author list ➔ Vigorito E, et al. Among authors: imyanitov en. PLoS One. 2016 Jul 27;11(7):e0158801. doi: 10.1371/journal.pone.0158801. eCollection 2016. PLoS One. 2016. PMID: 27463617 Free PMC article.
High frequency of BRCA1 5382insC mutation in Russian breast cancer patients.
Sokolenko AP, Mitiushkina NV, Buslov KG, Bit-Sava EM, Iyevleva AG, Chekmariova EV, Kuligina ESh, Ulibina YM, Rozanov ME, Suspitsin EN, Matsko DE, Chagunava OL, Trofimov DY, Devilee P, Cornelisse C, Togo AV, Semiglazov VF, Imyanitov EN. Sokolenko AP, et al. Among authors: imyanitov en. Eur J Cancer. 2006 Jul;42(10):1380-4. doi: 10.1016/j.ejca.2006.01.050. Epub 2006 Jun 5. Eur J Cancer. 2006. PMID: 16737811
CHEK2 variants predispose to benign, borderline and low-grade invasive ovarian tumors.
Szymanska-Pasternak J, Szymanska A, Medrek K, Imyanitov EN, Cybulski C, Gorski B, Magnowski P, Dziuba I, Gugala K, Debniak B, Gozdz S, Sokolenko AP, Krylova NY, Lobeiko OS, Narod SA, Lubinski J. Szymanska-Pasternak J, et al. Among authors: imyanitov en. Gynecol Oncol. 2006 Sep;102(3):429-31. doi: 10.1016/j.ygyno.2006.05.040. Epub 2006 Jul 10. Gynecol Oncol. 2006. PMID: 16828850
Family history, genetic testing, and clinical risk prediction: pooled analysis of CHEK2 1100delC in 1,828 bilateral breast cancers and 7,030 controls.
Fletcher O, Johnson N, Dos Santos Silva I, Kilpivaara O, Aittomäki K, Blomqvist C, Nevanlinna H, Wasielewski M, Meijers-Heijerboer H, Broeks A, Schmidt MK, Van't Veer LJ, Bremer M, Dörk T, Chekmariova EV, Sokolenko AP, Imyanitov EN, Hamann U, Rashid MU, Brauch H, Justenhoven C, Ashworth A, Peto J. Fletcher O, et al. Among authors: imyanitov en. Cancer Epidemiol Biomarkers Prev. 2009 Jan;18(1):230-4. doi: 10.1158/1055-9965.EPI-08-0416. Cancer Epidemiol Biomarkers Prev. 2009. PMID: 19124502 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 MB, Hopp… See abstract for full author list ➔ Antoniou AC, et al. Among authors: imyanitov en. 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, Pfeiler G, Sp… See abstract for full author list ➔ Osorio A, et al. Among authors: imyanitov en. 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.
Non-founder BRCA1 mutations in Russian breast cancer patients.
Iyevleva AG, Suspitsin EN, Kroeze K, Gorodnova TV, Sokolenko AP, Buslov KG, Voskresenskiy DA, Togo AV, Kovalenko SP, Stoep Nv, Devilee P, Imyanitov EN. Iyevleva AG, et al. Among authors: imyanitov en. Cancer Lett. 2010 Dec 8;298(2):258-63. doi: 10.1016/j.canlet.2010.07.013. Epub 2010 Aug 19. Cancer Lett. 2010. PMID: 20727672
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.
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. 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.
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