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Page 1
Identification of six new susceptibility loci for invasive epithelial ovarian cancer.
Kuchenbaecker KB, Ramus SJ, Tyrer J, Lee A, Shen HC, Beesley J, Lawrenson K, McGuffog L, Healey S, Lee JM, Spindler TJ, Lin YG, Pejovic T, Bean Y, Li Q, Coetzee S, Hazelett D, Miron A, Southey M, Terry MB, Goldgar DE, Buys SS, Janavicius R, Dorfling CM, van Rensburg EJ, Neuhausen SL, Ding YC, Hansen TV, Jønson L, Gerdes AM, Ejlertsen B, Barrowdale D, Dennis J, Benitez J, Osorio A, Garcia MJ, Komenaka I, Weitzel JN, Ganschow P, Peterlongo P, Bernard L, Viel A, Bonanni B, Peissel B, Manoukian S, Radice P, Papi L, Ottini L, Fostira F, Konstantopoulou I, Garber J, Frost D, Perkins J, Platte R, Ellis S; EMBRACE; Godwin AK, Schmutzler RK, Meindl A, Engel C, Sutter C, Sinilnikova OM; GEMO Study Collaborators; Damiola F, Mazoyer S, Stoppa-Lyonnet D, Claes K, De Leeneer K, Kirk J, Rodriguez GC, Piedmonte M, O'Malley DM, de la Hoya M, Caldes T, Aittomäki K, Nevanlinna H, Collée JM, Rookus MA, Oosterwijk JC; Breast Cancer Family Registry; Tihomirova L, Tung N, Hamann U, Isaccs C, Tischkowitz M, Imyanitov EN, Caligo MA, Campbell IG, Hogervorst FB; HEBON; Olah E, Diez O, Blanco I, Brunet J, Lazaro C, Pujana MA, Jakubowska A, Gronwald J, Lubinski J, Sukiennicki G, Barkardottir RB,… See abstract for full author list ➔ Kuchenbaecker KB, et al. Among authors: de leeneer k, de la hoya m. Nat Genet. 2015 Feb;47(2):164-71. doi: 10.1038/ng.3185. Epub 2015 Jan 12. Nat Genet. 2015. PMID: 25581431 Free PMC article.
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Walker LC, de la Hoya M, Wiggins GAR, Lindy A, Vincent LM, Parsons MT, Canson DM, Bis-Brewer D, Cass A, Tchourbanov A, Zimmermann H, Byrne AB, Pesaran T, Karam R, Harrison S, Spurdle AB. Walker LC, et al. Among authors: de la hoya m. medRxiv [Preprint]. 2023 Feb 26:2023.02.24.23286431. doi: 10.1101/2023.02.24.23286431. medRxiv. 2023. PMID: 36865205 Free PMC article. Updated. Preprint.
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, Monta… See abstract for full author list ➔ Barnes DR, et al. Among authors: de la hoya m. medRxiv [Preprint]. 2024 Mar 4:2024.02.29.24303243. doi: 10.1101/2024.02.29.24303243. medRxiv. 2024. PMID: 38496424 Free PMC article. Preprint.
Saturation genome editing-based functional evaluation and clinical classification of BRCA2 single nucleotide variants.
Huang H, Hu C, Na J, Hart SN, Gnanaolivu RD, Abozaid M, Rao T, Tecleab YA, Pesaran T, Lyra PCM, Karam R, Yadav S, Domchek SM, de la Hoya M, Robson M, Mehine M, Bandlamudi C, Mandelker D, Monteiro ANA, Boddicker N, Chen W, Richardson ME, Couch FJ. Huang H, et al. Among authors: de la hoya m. bioRxiv [Preprint]. 2023 Dec 15:2023.12.14.571597. doi: 10.1101/2023.12.14.571597. bioRxiv. 2023. PMID: 38168194 Free PMC article. Preprint.
Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer-rich regions and 38 spliceogenic variants.
Sanoguera-Miralles L, Llinares-Burguet I, Bueno-Martínez E, Ramadane-Morchadi L, Stuani C, Valenzuela-Palomo A, García-Álvarez A, Pérez-Segura P, Buratti E, de la Hoya M, Velasco-Sampedro EA. Sanoguera-Miralles L, et al. Among authors: de la hoya m. J Pathol. 2024 Apr;262(4):395-409. doi: 10.1002/path.6243. Epub 2024 Feb 9. J Pathol. 2024. PMID: 38332730
A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis.
Porras LM, Padilla N, Moles-Fernández A, Feliubadaló L, Santamariña-Pena M, Sánchez AT, López-Novo A, Blanco A, de la Hoya M, Molina IJ, Osorio A, Pineda M, Rueda D, Ruiz-Ponte C, Vega A, Lázaro C, Díez O, Gutiérrez-Enríquez S, de la Cruz X. Porras LM, et al. Among authors: de la hoya m. J Mol Diagn. 2024 Jan;26(1):17-28. doi: 10.1016/j.jmoldx.2023.09.009. Epub 2023 Oct 19. J Mol Diagn. 2024. PMID: 37865290 Free article.
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: de la hoya m. Clin Chem. 2024 Jan 4;70(1):319-338. doi: 10.1093/clinchem/hvad125. Clin Chem. 2024. PMID: 37725924
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: de la hoya m. 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.
Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium.
Kast K, John EM, Hopper JL, Andrieu N, Noguès C, Mouret-Fourme E, Lasset C, Fricker JP, Berthet P, Mari V, Salle L, Schmidt MK, Ausems MGEM, Garcia EBG, van de Beek I, Wevers MR, Evans DG, Tischkowitz M, Lalloo F, Cook J, Izatt L, Tripathi V, Snape K, Musgrave H, Sharif S, Murray J; EMBRACE Collaborators; Colonna SV, Andrulis IL, Daly MB, Southey MC, de la Hoya M, Osorio A, Foretova L, Berkova D, Gerdes AM, Olah E, Jakubowska A, Singer CF, Tan Y, Augustinsson A, Rantala J, Simard J, Schmutzler RK, Milne RL, Phillips KA, Terry MB, Goldgar D, van Leeuwen FE, Mooij TM, Antoniou AC, Easton DF, Rookus MA, Engel C. Kast K, et al. Among authors: de la hoya m. Breast Cancer Res. 2023 Jun 20;25(1):72. doi: 10.1186/s13058-023-01673-w. Breast Cancer Res. 2023. PMID: 37340476 Free PMC article.
HOPE (SOLTI-1903) breast cancer study: real-world, patient-centric, clinical practice study to assess the impact of genomic data on next treatment decision-choice in patients with locally advanced or metastatic breast cancer.
Olivera-Salguero R, Seguí E, Cejalvo JM, Oliveira M, Tolosa P, Vidal M, Malumbres M, Gavilá J, Saura C, Pernas S, López R, Margelí M, Balmaña J, Muñoz M, Blancas I, Boni V, Ciruelos E, Galve E, Perelló A, Sánchez-Bayona R, de la Cruz S, de la Hoya M, Galván P, Sanfeliu E, Gonzalez-Farre B, Sirenko V, Blanch-Torras A, Canes J, Masanas H, Olmos R, Forns M, Prat A, Casas A, Pascual T. Olivera-Salguero R, et al. Among authors: de la hoya m. Front Oncol. 2023 Apr 28;13:1151496. doi: 10.3389/fonc.2023.1151496. eCollection 2023. Front Oncol. 2023. PMID: 37188177 Free PMC article.
173 results