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Page 1
Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants.
Sanoguera-Miralles L, Valenzuela-Palomo A, Bueno-Martínez E, Esteban-Sánchez A, Lorca V, Llinares-Burguet I, García-Álvarez A, Pérez-Segura P, Infante M, Easton DF, Devilee P, Vreeswijk MPG, de la Hoya M, Velasco-Sampedro EA. Sanoguera-Miralles L, et al. Among authors: easton df. Clin Chem. 2024 Jan 4;70(1):319-338. doi: 10.1093/clinchem/hvad125. Clin Chem. 2024. PMID: 37725924
Correction: PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~ 200,000 patients.
Giardiello D, Hooning MJ, Hauptmann M, Keeman R, Heemskerk-Gerritsen BAM, Becher H, Blomqvist C, Bojesen SE, Bolla MK, Camp NJ, Czene K, Devilee P, Eccles DM, Fasching PA, Figueroa JD, Flyger H, García-Closas M, Haiman CA, Hamann U, Hopper JL, Jakubowska A, Leeuwen FE, Lindblom A, Lubiński J, Margolin S, Martinez ME, Nevanlinna H, Nevelsteen I, Pelders S, Pharoah PDP, Siesling S, Southey MC, van der Hout AH, van Hest LP, Chang-Claude J, Hall P, Easton DF, Steyerberg EW, Schmidt MK. Giardiello D, et al. Among authors: easton df. Breast Cancer Res. 2022 Nov 22;24(1):82. doi: 10.1186/s13058-022-01579-z. Breast Cancer Res. 2022. PMID: 36419099 Free PMC article. No abstract available.
Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.
Engel C, Versmold B, Wappenschmidt B, Simard J, Easton DF, Peock S, Cook M, Oliver C, Frost D, Mayes R, Evans DG, Eeles R, Paterson J, Brewer C; Epidemiological Study of Familial Breast Cancer (EMBRACE); McGuffog L, Antoniou AC, Stoppa-Lyonnet D, Sinilnikova OM, Barjhoux L, Frenay M, Michel C, Leroux D, Dreyfus H, Toulas C, Gladieff L, Uhrhammer N, Bignon YJ, Meindl A, Arnold N, Varon-Mateeva R, Niederacher D, Preisler-Adams S, Kast K, Deissler H, Sutter C, Gadzicki D, Chenevix-Trench G, Spurdle AB, Chen X, Beesley J; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab); Olsson H, Kristoffersson U, Ehrencrona H, Liljegren A; Swedish Breast Cancer Study, Sweden (SWE-BRCA); van der Luijt RB, van Os TA, van Leeuwen FE; Hereditary Breast and Ovarian cancer group Netherlands (HEBON); Domchek SM, Rebbeck TR, Nathanson KL, Osorio A, Ramón y Cajal T, Konstantopoulou I, Benítez J, Friedman E, Kaufman B, Laitman Y, Mai PL, Greene MH, Nevanlinna H, Aittomäki K, Szabo CI, Caldes T, Couch FJ, Andrulis IL, Godwin AK, Hamann U, Schmutzler RK; Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Engel C, et al. Among authors: easton df. Cancer Epidemiol Biomarkers Prev. 2010 Nov;19(11):2859-68. doi: 10.1158/1055-9965.EPI-10-0517. Epub 2010 Oct 26. Cancer Epidemiol Biomarkers Prev. 2010. PMID: 20978178 Free PMC article.
Proactive breast cancer risk assessment in primary care: a review based on the principles of screening.
Usher-Smith JA, Hindmarch S, French DP, Tischkowitz M, Moorthie S, Walter FM, Dennison RA, Stutzin Donoso F, Archer S, Taylor L, Emery J, Morris S, Easton DF, Antoniou AC. Usher-Smith JA, et al. Among authors: easton df. Br J Cancer. 2023 May;128(9):1636-1646. doi: 10.1038/s41416-023-02145-w. Epub 2023 Feb 3. Br J Cancer. 2023. PMID: 36737659 Free PMC article. Review.
EBCC-13 manifesto: Balancing pros and cons for contralateral prophylactic mastectomy.
Schmidt MK, Kelly JE, Brédart A, Cameron DA, de Boniface J, Easton DF, Offersen BV, Poulakaki F, Rubio IT, Sardanelli F, Schmutzler R, Spanic T, Weigelt B, Rutgers EJT. Schmidt MK, et al. Among authors: easton df. Eur J Cancer. 2023 Mar;181:79-91. doi: 10.1016/j.ejca.2022.11.036. Epub 2022 Dec 13. Eur J Cancer. 2023. PMID: 36641897 Free PMC article. Review.
Disentangling the relationships of body mass index and circulating sex hormone concentrations in mammographic density using Mendelian randomization.
Haas CB, Chen H, Harrison T, Fan S, Gago-Dominguez M, Castelao JE, Bolla MK, Wang Q, Dennis J, Michailidou K, Dunning AM, Easton DF, Antoniou AC, Hall P, Czene K, Andrulis IL, Mulligan AM, Milne RL, Fasching PA, Haeberle L, Garcia-Closas M, Ahearn T, Gierach GL, Haiman C, Maskarinec G, Couch FJ, Olson JE, John EM, Chenevix-Trench G, de Gonzalez AB, Jones M, Stone J, Murphy R, Aronson KJ, Wernli KJ, Hsu L, Vachon C, Tamimi RM, Lindström S. Haas CB, et al. Among authors: easton df. Breast Cancer Res Treat. 2024 Apr 24. doi: 10.1007/s10549-024-07306-w. Online ahead of print. Breast Cancer Res Treat. 2024. PMID: 38653906
Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk.
Barnes DR, Tyrer JP, Dennis J, Leslie G, Bolla MK, Lush M, Aeilts AM, Aittomäki K, Andrieu N, Andrulis IL, Anton-Culver H, Arason A, Arun BK, Balmaña J, Bandera EV, Barkardottir RB, Berger LPV, de Gonzalez AB, Berthet P, Białkowska K, Bjørge L, Blanco AM, Blok MJ, Bobolis KA, Bogdanova NV, Brenton JD, Butz H, Buys SS, Caligo MA, Campbell I, Castillo C, Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators; Colonna SV, Cook LS, Daly MB, Dansonka-Mieszkowska A, de la Hoya M, deFazio A, DePersia A, Ding YC, Domchek SM, Dörk T, Einbeigi Z, Engel C, Evans DG, Foretova L, Fortner RT, Fostira F, Foti MC, Friedman E, Frone MN, Ganz PA, Gentry-Maharaj A, Glendon G, Godwin AK, González-Neira A, Greene MH, Gronwald J, Guerrieri-Gonzaga A, Hamann U, Hansen TVO, Harris HR, Hauke J, Heitz F, Hogervorst FBL, Hooning MJ, Hopper JL, Huff CD, Huntsman DG, Imyanitov EN; kConFab Investigators; Izatt L, Jakubowska A, James PA, Janavicius R, John EM, Kar S, Karlan BY, Kennedy CJ, Kiemeney LALM, Konstantopoulou I, Kupryjanczyk J, Laitman Y, Lavie O, Lawrenson K, Lester J, Lesueur F, Lopez-Pleguezuelos C, Mai PL, Manoukian S, May T, McNeish IA, Menon U, Milne RL, Modugno F, Mongiovi JM, Montagna M, … See abstract for full author list ➔ Barnes DR, et al. Among authors: easton df. medRxiv [Preprint]. 2024 Mar 4:2024.02.29.24303243. doi: 10.1101/2024.02.29.24303243. medRxiv. 2024. PMID: 38496424 Free PMC article. Preprint.
875 results