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Page 1
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.
Figlioli G, Bogliolo M, Catucci I, Caleca L, Lasheras SV, Pujol R, Kiiski JI, Muranen TA, Barnes DR, Dennis J, Michailidou K, Bolla MK, Leslie G, Aalfs CM; ABCTB Investigators; Adank MA, Adlard J, Agata S, Cadoo K, Agnarsson BA, Ahearn T, Aittomäki K, Ambrosone CB, Andrews L, Anton-Culver H, Antonenkova NN, Arndt V, Arnold N, Aronson KJ, Arun BK, Asseryanis E, Auber B, Auvinen P, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Barwell J, Beane Freeman LE, Beauparlant CJ, Beckmann MW, Behrens S, Benitez J, Berger R, Bermisheva M, Blanco AM, Blomqvist C, Bogdanova NV, Bojesen A, Bojesen SE, Bonanni B, Borg A, Brady AF, Brauch H, Brenner H, Brüning T, Burwinkel B, Buys SS, Caldés T, Caliebe A, Caligo MA, Campa D, Campbell IG, Canzian F, Castelao JE, Chang-Claude J, Chanock SJ, Claes KBM, Clarke CL, Collavoli A, Conner TA, Cox DG, Cybulski C, Czene K, Daly MB, de la Hoya M, Devilee P, Diez O, Ding YC, Dite GS, Ditsch N, Domchek SM, Dorfling CM, Dos-Santos-Silva I, Durda K, Dwek M, Eccles DM, Ekici AB, Eliassen AH, Ellberg C, Eriksson M, Evans DG, Fasching PA, Figueroa J, Flyger H, Foulkes WD, Friebel TM, Friedman E, Gabrielson M, Gaddam P, Gago-Dominguez M, Gao C, Gapstur SM, G… See abstract for full author list ➔ Figlioli G, et al. Among authors: imyanitov en. NPJ Breast Cancer. 2019 Nov 1;5:38. doi: 10.1038/s41523-019-0127-5. eCollection 2019. NPJ Breast Cancer. 2019. PMID: 31700994 Free PMC article.
Evidence for microsatellite instability in bilateral breast carcinomas.
Imyanitov EN, Togo AV, Suspitsin EN, Grigoriev MY, Pozharisski KM, Turkevich EA, Hanson KP, Hayward NK, Chenevix-Trench G, Theillet C, Lavin MF. Imyanitov EN, et al. Cancer Lett. 2000 Jun 1;154(1):9-17. doi: 10.1016/s0304-3835(99)00444-9. Cancer Lett. 2000. PMID: 10799734
NBS1 657del5 mutation may contribute only to a limited fraction of breast cancer cases in Russia.
Buslov KG, Iyevleva AG, Chekmariova EV, Suspitsin EN, Togo AV, Kuligina ESh, Sokolenko AP, Matsko DE, Turkevich EA, Lazareva YR, Chagunava OL, Bit-Sava EM, Semiglazov VF, Devilee P, Cornelisse C, Hanson KP, Imyanitov EN. Buslov KG, et al. Among authors: imyanitov en. Int J Cancer. 2005 Apr 20;114(4):585-9. doi: 10.1002/ijc.20765. Int J Cancer. 2005. PMID: 15578693 Free article.
CHEK2 1100delC mutation is frequent among Russian breast cancer patients.
Chekmariova EV, Sokolenko AP, Buslov KG, Iyevleva AG, Ulibina YM, Rozanov ME, Mitiushkina NV, Togo AV, Matsko DE, Voskresenskiy DA, Chagunava OL, Devilee P, Cornelisse C, Semiglazov VF, Imyanitov EN. Chekmariova EV, et al. Among authors: imyanitov en. Breast Cancer Res Treat. 2006 Nov;100(1):99-102. doi: 10.1007/s10549-006-9227-7. Epub 2006 Jun 7. Breast Cancer Res Treat. 2006. PMID: 16758118
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
Founder mutations in early-onset, familial and bilateral breast cancer patients from Russia.
Sokolenko AP, Rozanov ME, Mitiushkina NV, Sherina NY, Iyevleva AG, Chekmariova EV, Buslov KG, Shilov ES, Togo AV, Bit-Sava EM, Voskresenskiy DA, Chagunava OL, Devilee P, Cornelisse C, Semiglazov VF, Imyanitov EN. Sokolenko AP, et al. Among authors: imyanitov en. Fam Cancer. 2007;6(3):281-6. doi: 10.1007/s10689-007-9120-5. Epub 2007 Feb 28. Fam Cancer. 2007. PMID: 17333477
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.
277 results