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Year Number of Results
2007 1
2009 1
2010 2
2011 2
2012 3
2013 2
2014 1
2015 2
2016 1
2017 5
2018 2
2019 4
2020 9
2021 10
2022 5
2023 2
2024 1

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46 results

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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: del valle j. Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818. Hum Mutat. 2019. PMID: 31131967 Free PMC article.
Role of POLE and POLD1 in familial cancer.
Mur P, García-Mulero S, Del Valle J, Magraner-Pardo L, Vidal A, Pineda M, Cinnirella G, Martín-Ramos E, Pons T, López-Doriga A, Belhadj S, Feliubadaló L, Munoz-Torres PM, Navarro M, Grau E, Darder E, Llort G, Sanz J, Ramón Y Cajal T, Balmana J, Brunet J, Moreno V, Piulats JM, Matías-Guiu X, Sanz-Pamplona R, Aligué R, Capellá G, Lázaro C, Valle L. Mur P, et al. Among authors: del valle j. Genet Med. 2020 Dec;22(12):2089-2100. doi: 10.1038/s41436-020-0922-2. Epub 2020 Aug 14. Genet Med. 2020. PMID: 32792570 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: del valle j. 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.
Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients.
Vargas-Parra G, Del Valle J, Rofes P, Gausachs M, Stradella A, Moreno-Cabrera JM, Velasco A, Tornero E, Menéndez M, Muñoz X, Iglesias S, López-Doriga A, Azuara D, Campos O, Cuesta R, Darder E, de Cid R, González S, Teulé A, Navarro M, Brunet J, Capellá G, Pineda M, Feliubadaló L, Lázaro C. Vargas-Parra G, et al. Among authors: del valle j. Hum Mutat. 2020 Dec;41(12):2128-2142. doi: 10.1002/humu.24110. Epub 2020 Oct 14. Hum Mutat. 2020. PMID: 32906215
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients.
Del Valle J, Rofes P, Moreno-Cabrera JM, López-Dóriga A, Belhadj S, Vargas-Parra G, Teulé À, Cuesta R, Muñoz X, Campos O, Salinas M, de Cid R, Brunet J, González S, Capellá G, Pineda M, Feliubadaló L, Lázaro C. Del Valle J, et al. Cancers (Basel). 2020 Mar 30;12(4):829. doi: 10.3390/cancers12040829. Cancers (Basel). 2020. PMID: 32235514 Free PMC article.
The BRCA2 R2645G variant increases DNA binding and induces hyper-recombination.
Alvaro-Aranda L, Petitalot A, Djeghmoum Y, Panigada D, Singh JK, Ehlén Å, Vugic D, Martin C, Miron S, Contreras-Perez A, Nhiri N, Boucherit V, Lafitte P, Dumoulin I, Rouleau E, Jacquet E, Feliubadaló L, Del Valle J, Stoppa-Lyonnet D, Zinn-Justin S, Lázaro C, Caputo SM, Carreira A. Alvaro-Aranda L, et al. Among authors: del valle j. Nucleic Acids Res. 2023 Dec 24:gkad1222. doi: 10.1093/nar/gkad1222. Online ahead of print. Nucleic Acids Res. 2023. PMID: 38142462
Characteristics of Adrenocortical Carcinoma Associated With Lynch Syndrome.
Domènech M, Grau E, Solanes A, Izquierdo A, Del Valle J, Carrato C, Pineda M, Dueñas N, Pujol M, Lázaro C, Capellà G, Brunet J, Navarro M. Domènech M, et al. Among authors: del valle j. J Clin Endocrinol Metab. 2021 Jan 23;106(2):318-325. doi: 10.1210/clinem/dgaa833. J Clin Endocrinol Metab. 2021. PMID: 33185660 Review.
Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.
Barnes DR, Silvestri V, Leslie G, McGuffog L, Dennis J, Yang X, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, Andrulis IL, Arason A, Arnold N, Auber B, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Barwell J, Belotti M, Benitez J, Berthet P, Boonen SE, Borg Å, Bozsik A, Brady AF, Brennan P, Brewer C, Brunet J, Bucalo A, Buys SS, Caldés T, Caligo MA, Campbell I, Cassingham H, Christensen LL, Cini G, Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators; Cook J, Coppa A, Cortesi L, Damante G, Darder E, Davidson R, de la Hoya M, De Leeneer K, de Putter R, Del Valle J, Diez O, Ding YC, Domchek SM, Donaldson A, Eason J, Eeles R, Engel C, Evans DG, Feliubadaló L, Fostira F, Frone M, Frost D, Gallagher D, Gehrig A, Giraud S, Glendon G, Godwin AK, Goldgar DE, Greene MH, Gregory H, Gross E, Hahnen E, Hamann U, Hansen TVO, Hanson H, Hentschel J, Horvath J; KConFab Investigators; HEBON Investigators; Izatt L, Izquierdo A, James PA, Janavicius R, Jensen UB, Johannsson OT, John EM, Kramer G, Kroeldrup L, Kruse TA, Lautrup C, Lazaro C, Lesueur F, Lopez-Fernández A, Mai PL, Manoukian S, Matrai Z, Matricardi L, Maxwell KN, Mebirouk N, Meindl A, Montagna M, Monteiro AN, Morris… See abstract for full author list ➔ Barnes DR, et al. Among authors: del valle j. J Natl Cancer Inst. 2022 Jan 11;114(1):109-122. doi: 10.1093/jnci/djab147. J Natl Cancer Inst. 2022. PMID: 34320204 Free PMC article.
ERCC3, a new ovarian cancer susceptibility gene?
Stradella A, Del Valle J, Rofes P, Vargas-Parra G, Salinas M, González S, Montes E, López-Doriga A, Gómez C, de Cid R, Darder E, Teulé A, Solanes A, Munté E, Capellà G, Pineda M, Feliubadaló L, Brunet J, Lázaro C. Stradella A, et al. Among authors: del valle j. Eur J Cancer. 2020 Dec;141:1-8. doi: 10.1016/j.ejca.2020.09.023. Epub 2020 Oct 23. Eur J Cancer. 2020. PMID: 33125943
Mosaicism in PTEN-new case and comment on the literature.
Rofes P, Teulé Á, Feliubadaló L, Salinas M, Cuesta R, Iglesias S, Campos O, González S, Capellá G, Brunet J, Del Valle J, Lázaro C. Rofes P, et al. Among authors: del valle j. Eur J Hum Genet. 2022 Jun;30(6):641-644. doi: 10.1038/s41431-022-01052-7. Epub 2022 Feb 1. Eur J Hum Genet. 2022. PMID: 35102303 Free PMC article. No abstract available.
46 results