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Page 1
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, Borg Å, Bortesi B, Brunet J, Bruzzone C, Bucksch K, Cagnoli G, Caldés T, Caliebe A, Caligo MA, Calvello M, Capone GL, Caputo SM, Carnevali I, Carrasco E, Caux-Moncoutier V, Cavalli P, Cini G, Clarke EM, Concolino P, Cops EJ, Cortesi L, Couch FJ, Darder E, de la Hoya M, Dean M, Debatin I, Del Valle J, Delnatte C, Derive N, Diez O, Ditsch N, Domchek SM, Dutrannoy V, Eccles DM, Ehrencrona H, Enders U, Evans DG, Farra C, Faust U, Felbor U, Feroce I, Fine M, Foulkes WD, Galvao HCR, Gambino G, Gehrig A, Gensini F, Gerdes AM, Germani A, Giesecke J, Gismondi V, Gómez C, Gómez Garcia EB, González S, Grau E, Grill S, Gross E, Guerrieri-Gonzaga A, Guillaud-Bataille M, Gutiérrez-Enríquez S, Haaf T, Hackmann K, Hansen TVO, Harris M, Hauke J, Heinrich T, Hellebrand H, Herold KN, Honisch E, Horvath J, Houdayer C, Hübbel V, Iglesias S, Izquierdo A, James PA, Janssen LAM, Jeschke U, Kaulfuß S, Keupp K, Kiechle M, Kölbl A, Krieger S, Kruse TA, K… See abstract for full author list ➔ Parsons MT, et al. Among authors: gomez garcia eb. Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818. Hum Mutat. 2019. PMID: 31131967 Free PMC article.
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.
Stolarova L, Kleiblova P, Zemankova P, Stastna B, Janatova M, Soukupova J, Achatz MI, Ambrosone C, Apostolou P, Arun BK, Auer P, Barnard M, Bertelsen B; Biobank Japan; Blok MJ, Boddicker N, Brunet J, Burnside ES, Calvello M, Campbell I, Chan SH, Chen F, Chiang JB, Coppa A, Cortesi L, Crujeiras-González A; Consortium CZECANCA; De Leeneer K, De Putter R, DePersia A, Devereux L, Domchek S, Efremidis A, Engel C, Ernst C, Evans DGR, Feliubadaló L, Fostira F, Fuentes-Ríos O, Gómez-García EB, González S, Haiman C, Hansen TVO, Hauke J, Hodge J, Hu C, Huang H, Ishak NDB, Iwasaki Y, Konstantopoulou I, Kraft P, Lacey J, Lázaro C, Li N, Lim WK, Lindstrom S, Lori A, Martinez E, Martins A, Matsuda K, Matullo G, McInerny S, Michailidou K, Montagna M, Monteiro ANA, Mori L, Nathanson K, Neuhausen SL, Nevanlinna H, Olson JE, Palmer J, Pasini B, Patel A, Piane M, Poppe B, Radice P, Renieri A, Resta N, Richardson ME, Rosseel T, Ruddy KJ, Santamariña M, Dos Santos ES, Teras L, Toland AE, Trentham-Dietz A, Vachon CM, Volk AE, Weber-Lassalle N, Weitzel JN, Wiesmuller L, Winham S, Yadav S, Yannoukakos D, Yao S, Zampiga V, Zethoven M, Zhang ZW, Zima T, Spurdle AB, Vega A, Rossing M, Del Valle J, De… See abstract for full author list ➔ Stolarova L, et al. Among authors: gomez garcia eb. Clin Cancer Res. 2023 Aug 15;29(16):3037-3050. doi: 10.1158/1078-0432.CCR-23-0212. Clin Cancer Res. 2023. PMID: 37449874 Free PMC article.
TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes.
Ruijs MW, Verhoef S, Rookus MA, Pruntel R, van der Hout AH, Hogervorst FB, Kluijt I, Sijmons RH, Aalfs CM, Wagner A, Ausems MG, Hoogerbrugge N, van Asperen CJ, Gomez Garcia EB, Meijers-Heijboer H, Ten Kate LP, Menko FH, van 't Veer LJ. Ruijs MW, et al. Among authors: gomez garcia eb. J Med Genet. 2010 Jun;47(6):421-8. doi: 10.1136/jmg.2009.073429. J Med Genet. 2010. PMID: 20522432 Free article.
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.
Rebbeck TR, Mitra N, Wan F, Sinilnikova OM, Healey S, McGuffog L, Mazoyer S, Chenevix-Trench G, Easton DF, Antoniou AC, Nathanson KL; CIMBA Consortium; Laitman Y, Kushnir A, Paluch-Shimon S, Berger R, Zidan J, Friedman E, Ehrencrona H, Stenmark-Askmalm M, Einbeigi Z, Loman N, Harbst K, Rantala J, Melin B, Huo D, Olopade OI, Seldon J, Ganz PA, Nussbaum RL, Chan SB, Odunsi K, Gayther SA, Domchek SM, Arun BK, Lu KH, Mitchell G, Karlan BY, Walsh C, Lester J, Godwin AK, Pathak H, Ross E, Daly MB, Whittemore AS, John EM, Miron A, Terry MB, Chung WK, Goldgar DE, Buys SS, Janavicius R, Tihomirova L, Tung N, Dorfling CM, van Rensburg EJ, Steele L, Neuhausen SL, Ding YC, Ejlertsen B, Gerdes AM, Hansen Tv, Ramón y Cajal T, Osorio A, Benitez J, Godino J, Tejada MI, Duran M, Weitzel JN, Bobolis KA, Sand SR, Fontaine A, Savarese A, Pasini B, Peissel B, Bonanni B, Zaffaroni D, Vignolo-Lutati F, Scuvera G, Giannini G, Bernard L, Genuardi M, Radice P, Dolcetti R, Manoukian S, Pensotti V, Gismondi V, Yannoukakos D, Fostira F, Garber J, Torres D, Rashid MU, Hamann U, Peock S, Frost D, Platte R, Evans DG, Eeles R, Davidson R, Eccles D, Cole T, Cook J, Brewer C, Hodgson S, Morrison PJ, Walker L, Porte… See abstract for full author list ➔ Rebbeck TR, et al. Among authors: gomez garcia eb. JAMA. 2015 Apr 7;313(13):1347-61. doi: 10.1001/jama.2014.5985. JAMA. 2015. PMID: 25849179 Free PMC article.
Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases.
Figlioli G, Billaud A, Wang Q, Bolla MK, Dennis J, Lush M, Kvist A, Adank MA, Ahearn TU, Antonenkova NN, Auvinen P, Behrens S, Bermisheva M, Bogdanova NV, Bojesen SE, Bonanni B, Brüning T, Camp NJ, Campbell A, Castelao JE, Cessna MH, Nbcs Collaborators, Czene K, Devilee P, Dörk T, Eriksson M, Fasching PA, Flyger H, Gabrielson M, Gago-Dominguez M, García-Closas M, Glendon G, Gómez Garcia EB, González-Neira A, Grassmann F, Guénel P, Hahnen E, Hamann U, Hillemanns P, Hooning MJ, Hoppe R, Howell A, Humphreys K, kConFab Investigators, Jakubowska A, Khusnutdinova EK, Kristensen VN, Lindblom A, Loizidou MA, Lubiński J, Mannermaa A, Maurer T, Mavroudis D, Newman WG, Obi N, Panayiotidis MI, Radice P, Rashid MU, Rhenius V, Ruebner M, Saloustros E, Sawyer EJ, Schmidt MK, Schmutzler RK, Shah M, Southey MC, Tomlinson I, Truong T, van Veen EM, Wendt C, Yang XR, Michailidou K, Dunning AM, Pharoah PDP, Easton DF, Andrulis IL, Evans DG, Hollestelle A, Chang-Claude J, Milne RL, Peterlongo P. Figlioli G, et al. Among authors: gomez garcia eb. Cancers (Basel). 2023 Jun 23;15(13):3313. doi: 10.3390/cancers15133313. Cancers (Basel). 2023. PMID: 37444426 Free PMC article.
Contralateral breast cancer risk in patients with breast cancer and a germline-BRCA1/2 pathogenic variant undergoing radiation.
van Barele M, Akdeniz D, Heemskerk-Gerritsen BAM; Genepso; Andrieu N, Noguès C; HEBON; van Asperen CJ, Wevers M, Ausems MGEM, de Bock GH, Dommering CJ, Gómez-García EB, van Leeuwen FE, Mooij TM; EMBRACE; Easton DF, Antoniou AC, Evans DG, Izatt L, Tischkowitz M, Frost D, Brewer C, Olah E, Simard J, Singer CF, Thomassen M, Kast K, Rhiem K, Engel C, de la Hoya M, Foretová L, Jakubowska A, Jager A, Sattler MGA, Schmidt MK, Hooning MJ. van Barele M, et al. Among authors: gomez garcia eb. J Natl Cancer Inst. 2023 Nov 8;115(11):1318-1328. doi: 10.1093/jnci/djad116. J Natl Cancer Inst. 2023. PMID: 37369040 Free PMC article.
Sexual functioning more than 15 years after premenopausal risk-reducing salpingo-oophorectomy.
Terra L, Beekman MJ, Engelhardt EG, Heemskerk-Gerritsen BAM, van Beurden M, Roeters van Lennep JE, van Doorn HC, de Hullu JA, Van Dorst EBL, Mom CH, Slangen BFM, Gaarenstroom KN, van der Kolk LE, Collée JM, Wevers MR, Ausems MGEM, Van Engelen K, van de Beek I, Berger LPV, van Asperen CJ, Gomez Garcia EB, Maas AHEM, Hooning MJ, Aaronson NK, Mourits MJE, van Leeuwen FE. Terra L, et al. Among authors: gomez garcia eb. Am J Obstet Gynecol. 2023 Apr;228(4):440.e1-440.e20. doi: 10.1016/j.ajog.2022.11.1289. Epub 2022 Nov 17. Am J Obstet Gynecol. 2023. PMID: 36403862 Free article.
Discordant Staining Patterns and Microsatellite Results in Tumors of MSH6 Pathogenic Variant Carriers.
van der Werf-'t Lam AS, Terlouw D, Tops CM, van Kan MS, van Hest LP, Gille HJP, Duijkers FAM, Wagner A, Eikenboom EL, Letteboer TGW, de Jong MM, Bajwa-Ten Broeke SW, Bleeker FE, Gomez Garcia EB, de Wind N, van Wezel JT, Morreau H, Suerink M, Nielsen M. van der Werf-'t Lam AS, et al. Among authors: gomez garcia eb. Mod Pathol. 2023 Sep;36(9):100240. doi: 10.1016/j.modpat.2023.100240. Epub 2023 Jun 10. Mod Pathol. 2023. PMID: 37307877 Free article.
Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases.
Lakeman IMM, Rodríguez-Girondo MDM, Lee A, Celosse N, Braspenning ME, van Engelen K, van de Beek I, van der Hout AH, Gómez García EB, Mensenkamp AR, Ausems MGEM, Hooning MJ, Adank MA, Hollestelle A, Schmidt MK, van Asperen CJ, Devilee P. Lakeman IMM, et al. Among authors: gomez garcia eb. J Med Genet. 2023 Apr;60(4):327-336. doi: 10.1136/jmg-2022-108502. Epub 2022 Sep 22. J Med Genet. 2023. PMID: 36137616 Free article.
90 results