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Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants.
Barnes DR, Rookus MA, McGuffog L, Leslie G, Mooij TM, Dennis J, Mavaddat N, Adlard J, Ahmed M, Aittomäki K, Andrieu N, Andrulis IL, Arnold N, Arun BK, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Benitez J, Berthet P, Białkowska K, Blanco AM, Blok MJ, Bonanni B, Boonen SE, Borg Å, Bozsik A, Bradbury AR, Brennan P, Brewer C, Brunet J, Buys SS, Caldés T, Caligo MA, Campbell I, Christensen LL, Chung WK, Claes KBM, Colas C; GEMO Study Collaborators; EMBRACE Collaborators; Collonge-Rame MA, Cook J, Daly MB, Davidson R, de la Hoya M, de Putter R, Delnatte C, Devilee P, Diez O, Ding YC, Domchek SM, Dorfling CM, Dumont M, Eeles R, Ejlertsen B, Engel C, Evans DG, Faivre L, Foretova L, Fostira F, Friedlander M, Friedman E, Frost D, Ganz PA, Garber J, Gehrig A, Gerdes AM, Gesta P, Giraud S, Glendon G, Godwin AK, Goldgar DE, González-Neira A, Greene MH, Gschwantler-Kaulich D, Hahnen E, Hamann U, Hanson H, Hentschel J, Hogervorst FBL, Hooning MJ, Horvath J, Hu C, Hulick PJ, Imyanitov EN; kConFab Investigators; HEBON Investigators; GENEPSO Investigators; Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James PA, Janavicius R, John EM, Joseph V, Karlan BY, Kast K, Koudijs M, Kruse TA, Kwo… See abstract for full author list ➔ Barnes DR, et al. Among authors: tischkowitz m. Genet Med. 2020 Oct;22(10):1653-1666. doi: 10.1038/s41436-020-0862-x. Epub 2020 Jul 15. Genet Med. 2020. PMID: 32665703 Free PMC article.
Mutations in BRCA1 and BRCA2 and predisposition to prostate cancer.
Tischkowitz M, Eeles R; IMPACT study: Identification of Men with genetic predisposition to Prostate Cancer and its Clinical Treatment collaborators. Tischkowitz M, et al. Lancet. 2003 Jul 5;362(9377):80; author reply 80. doi: 10.1016/S0140-6736(03)13823-8. Lancet. 2003. PMID: 12853213 No abstract available.
Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach.
Tischkowitz M, Hamel N, Carvalho MA, Birrane G, Soni A, van Beers EH, Joosse SA, Wong N, Novak D, Quenneville LA, Grist SA; kConFab; Nederlof PM, Goldgar DE, Tavtigian SV, Monteiro AN, Ladias JA, Foulkes WD. Tischkowitz M, et al. Eur J Hum Genet. 2008 Jul;16(7):820-32. doi: 10.1038/ejhg.2008.13. Epub 2008 Feb 20. Eur J Hum Genet. 2008. PMID: 18285836 Free PMC article.
International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation.
Peixoto A, Santos C, Pinheiro M, Pinto P, Soares MJ, Rocha P, Gusmão L, Amorim A, van der Hout A, Gerdes AM, Thomassen M, Kruse TA, Cruger D, Sunde L, Bignon YJ, Uhrhammer N, Cornil L, Rouleau E, Lidereau R, Yannoukakos D, Pertesi M, Narod S, Royer R, Costa MM, Lazaro C, Feliubadaló L, Graña B, Blanco I, de la Hoya M, Caldés T, Maillet P, Benais-Pont G, Pardo B, Laitman Y, Friedman E, Velasco EA, Durán M, Miramar MD, Valle AR, Calvo MT, Vega A, Blanco A, Diez O, Gutiérrez-Enríquez S, Balmaña J, Ramon y Cajal T, Alonso C, Baiget M, Foulkes W, Tischkowitz M, Kyle R, Sabbaghian N, Ashton-Prolla P, Ewald IP, Rajkumar T, Mota-Vieira L, Giannini G, Gulino A, Achatz MI, Carraro DM, de Paillerets BB, Remenieras A, Benson C, Casadei S, King MC, Teugels E, Teixeira MR. Peixoto A, et al. Among authors: tischkowitz m. Breast Cancer Res Treat. 2011 Jun;127(3):671-9. doi: 10.1007/s10549-010-1036-3. Epub 2010 Jul 22. Breast Cancer Res Treat. 2011. PMID: 20652400 Free article.
328 results