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Works by Capellá, Gabriel

Results: 64
    1

    ICO Amplicon NGS Data Analysis: A Web Tool for Variant Detection in Common High-Risk Hereditary Cancer Genes Analyzed by Amplicon GS Junior Next-Generation Sequencing.

    Published in:
    Human Mutation, 2014, v. 35, n. 3, p. 271, doi. 10.1002/humu.22484
    By:
    • Lopez‐Doriga, Adriana;
    • Feliubadaló, Lídia;
    • Menéndez, Mireia;
    • Lopez‐Doriga, Sergio;
    • Morón‐Duran, Francisco D.;
    • del Valle, Jesús;
    • Tornero, Eva;
    • Montes, Eva;
    • Cuesta, Raquel;
    • Campos, Olga;
    • Gómez, Carolina;
    • Pineda, Marta;
    • González, Sara;
    • Moreno, Victor;
    • Capellá, Gabriel;
    • Lázaro, Conxi
    Publication type:
    Article
    2
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    Comprehensive Functional Assessment of MLH1 Variants of Unknown Significance.

    Published in:
    Human Mutation, 2013, v. 34, n. 1, p. 274, doi. 10.1002/humu.22246
    By:
    • Borràs, Ester;
    • Pineda, Marta;
    • Brieger, Angela;
    • Hinrichsen, Inga;
    • Gómez, Carolina;
    • Navarro, Matilde;
    • Balmaña, Judit;
    • Ramón y Cajal, Teresa;
    • Torres, Asunción;
    • Brunet, Joan;
    • Blanco, Ignacio;
    • Plotz, Guido;
    • Lázaro, Conxi;
    • Capellá, Gabriel
    Publication type:
    Article
    4

    Comprehensive functional assessment of MLH1 variants of unknown significance.

    Published in:
    Human Mutation, 2012, v. 33, n. 11, p. 1576, doi. 10.1002/humu.22142
    By:
    • Borràs, Ester;
    • Pineda, Marta;
    • Brieger, Angela;
    • Hinrichsen, Inga;
    • Gómez, Carolina;
    • Navarro, Matilde;
    • Balmaña, Judit;
    • Ramón y Cajal, Teresa;
    • Torres, Asunción;
    • Brunet, Joan;
    • Blanco, Ignacio;
    • Plotz, Guido;
    • Lázaro, Conxi;
    • Capellá, Gabriel
    Publication type:
    Article
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    Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.

    Published in:
    Familial Cancer, 2017, v. 16, n. 4, p. 501, doi. 10.1007/s10689-017-9981-1
    By:
    • González-Acosta, Maribel;
    • del Valle, Jesús;
    • Navarro, Matilde;
    • Thompson, Bryony;
    • Iglesias, Sílvia;
    • Sanjuan, Xavier;
    • Paúles, María José;
    • Padilla, Natàlia;
    • Fernández, Anna;
    • Cuesta, Raquel;
    • Teulé, Àlex;
    • Plotz, Guido;
    • Cadiñanos, Juan;
    • Cruz, Xavier;
    • Balaguer, Francesc;
    • Lázaro, Conxi;
    • Pineda, Marta;
    • Capellá, Gabriel
    Publication type:
    Article
    10
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    Genetic Screening for TLR7 Variants in Young and Previously Healthy Men With Severe COVID-19.

    Published in:
    Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.719115
    By:
    • Solanich, Xavier;
    • Vargas-Parra, Gardenia;
    • van der Made, Caspar I.;
    • Simons, Annet;
    • Schuurs-Hoeijmakers, Janneke;
    • Antolí, Arnau;
    • del Valle, Jesús;
    • Rocamora-Blanch, Gemma;
    • Setién, Fernando;
    • Esteller, Manel;
    • van Reijmersdal, Simon V.;
    • Riera-Mestre, Antoni;
    • Sabater-Riera, Joan;
    • Capellá, Gabriel;
    • van de Veerdonk, Frank L.;
    • van der Hoven, Ben;
    • Corbella, Xavier;
    • Hoischen, Alexander;
    • Lázaro, Conxi
    Publication type:
    Article
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    BARD1 Pathogenic Variants Are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort.

    Published in:
    Genes, 2021, v. 12, n. 2, p. 150, doi. 10.3390/genes12020150
    By:
    • Rofes, Paula;
    • Del Valle, Jesús;
    • Torres-Esquius, Sara;
    • Feliubadaló, Lídia;
    • Stradella, Agostina;
    • Moreno-Cabrera, José Marcos;
    • López-Doriga, Adriana;
    • Munté, Elisabet;
    • De Cid, Rafael;
    • Campos, Olga;
    • Cuesta, Raquel;
    • Teulé, Álex;
    • Grau, Èlia;
    • Sanz, Judit;
    • Capellá, Gabriel;
    • Díez, Orland;
    • Brunet, Joan;
    • Balmaña, Judith;
    • Lázaro, Conxi;
    • Irminger-Finger, Irmgard
    Publication type:
    Article
    16
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    Novel Methylation Panel for the Early Detection of Colorectal Tumors in Stool DNA.

    Published in:
    Clinical Colorectal Cancer, 2010, v. 9, n. 3, p. 168, doi. 10.3816/CCC.2010.n.023
    By:
    • Azuara, Daniel;
    • Rodriguez-Moranta, Francisco;
    • de Oca, Javier;
    • Soriano-Izquierdo, Antonio;
    • Mora, Josefina;
    • Guardiola, Jordi;
    • Biondo, Sebastiano;
    • Blanco, Ignacio;
    • Peinado, Miguel Angel;
    • Moreno, Victor;
    • Esteller, Manel;
    • Capellá, Gabriel
    Publication type:
    Article
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    Germline variation in the oxidative DNA repair genes NUDT1 and OGG1 is not associated with hereditary colorectal cancer or polyposis.

    Published in:
    Human Mutation, 2018, v. 39, n. 9, p. 1214, doi. 10.1002/humu.23564
    By:
    • Mur, Pilar;
    • Jemth, Ann‐Sofie;
    • Bevc, Luka;
    • Amaral, Nuno;
    • Navarro, Matilde;
    • Valdés‐Mas, Rafael;
    • Pons, Tirso;
    • Aiza, Gemma;
    • Urioste, Miguel;
    • Valencia, Alfonso;
    • Lázaro, Conxi;
    • Moreno, Victor;
    • Puente, Xose S.;
    • Stenmark, Pål;
    • Warpman‐Berglund, Ulrika;
    • Capellá, Gabriel;
    • Helleday, Thomas;
    • Valle, Laura
    Publication type:
    Article
    22
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    Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

    Published in:
    Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00366
    By:
    • Moles-Fernández, Alejandro;
    • Duran-Lozano, Laura;
    • Montalban, Gemma;
    • Bonache, Sandra;
    • López-Perolio, Irene;
    • Menéndez, Mireia;
    • Santamariña, Marta;
    • Behar, Raquel;
    • Blanco, Ana;
    • Carrasco, Estela;
    • López-Fernández, Adrià;
    • Stjepanovic, Neda;
    • Balmaña, Judith;
    • Capellá, Gabriel;
    • Pineda, Marta;
    • Vega, Ana;
    • Lázaro, Conxi;
    • de la Hoya, Miguel;
    • Diez, Orland;
    • Gutiérrez-Enríquez, Sara
    Publication type:
    Article
    24
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    Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels.

    Published in:
    International Journal of Cancer, 2019, v. 145, n. 10, p. 2682, doi. 10.1002/ijc.32304
    By:
    • Feliubadaló, Lídia;
    • López‐Fernández, Adrià;
    • Pineda, Marta;
    • Díez, Orland;
    • Valle, Jesús;
    • Gutiérrez‐Enríquez, Sara;
    • Teulé, Alex;
    • González, Sara;
    • Stjepanovic, Neda;
    • Salinas, Mónica;
    • Capellá, Gabriel;
    • Brunet, Joan;
    • Lázaro, Conxi;
    • Balmaña, Judith;
    • Campos, Olga;
    • Carrasco, Estela;
    • Cuesta, Raquel;
    • Darder, Esther;
    • Gadea, Neus;
    • Gómez, Carolina
    Publication type:
    Article
    26

    A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients.

    Published in:
    Clinical Chemistry, 2021, v. 67, n. 3, p. 518, doi. 10.1093/clinchem/hvaa250
    By:
    • Feliubadaló, Lidia;
    • Moles-Fernández, Alejandro;
    • Santamariña-Pena, Marta;
    • T. Sánchez, Alysson;
    • López-Novo, Anael;
    • Porras, Luz-Marina;
    • Blanco, Ana;
    • Capellá, Gabriel;
    • de la Hoya, Miguel;
    • Molina, Ignacio J.;
    • Osorio, Ana;
    • Pineda, Marta;
    • Rueda, Daniel;
    • de la Cruz, Xavier;
    • Diez, Orland;
    • Ruiz-Ponte, Clara;
    • Gutiérrez-Enríquez, Sara;
    • Vega, Ana;
    • Lázaro, Conxi
    Publication type:
    Article
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    A genetic variant in telomerase reverse transcriptase (TERT) modifies cancer risk in Lynch syndrome patients harbouring pathogenic MSH2 variants.

    Published in:
    Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-90501-2
    By:
    • Wiik, Mariann Unhjem;
    • Evans, Tiffany-Jane;
    • Belhadj, Sami;
    • Bolton, Katherine A.;
    • Dymerska, Dagmara;
    • Jagmohan-Changur, Shantie;
    • Capellá, Gabriel;
    • Kurzawski, Grzegorz;
    • Wijnen, Juul T.;
    • Valle, Laura;
    • Vasen, Hans F. A.;
    • Lubinski, Jan;
    • Scott, Rodney J.;
    • Talseth-Palmer, Bente A.
    Publication type:
    Article
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    TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate.

    Published in:
    Genome Medicine, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s13073-025-01429-5
    By:
    • Rofes, Paula;
    • Castillo-Manzano, Carmen;
    • Menéndez, Mireia;
    • Teulé, Álex;
    • Iglesias, Sílvia;
    • Munté, Elisabet;
    • Ramos-Muntada, Mireia;
    • Gómez, Carolina;
    • Tornero, Eva;
    • Darder, Esther;
    • Montes, Eva;
    • Valle, Laura;
    • Capellá, Gabriel;
    • Pineda, Marta;
    • Brunet, Joan;
    • Feliubadaló, Lidia;
    • del Valle, Jesús;
    • Lázaro, Conxi
    Publication type:
    Article
    32

    TACC3-TSC2 maintains nuclear envelope structure and controls cell division.

    Published in:
    Cell Cycle, 2010, v. 9, n. 6, p. 1143
    By:
    • Gómez-Baldó, Laia;
    • Schmidt, Stephan;
    • Maxwell, Christopher A.;
    • Bonifaci, Núria;
    • Gabaldón, Toni;
    • Vidalain, Pierre-Olivier;
    • Senapedis, William;
    • Kletke, Anja;
    • Rosing, Mechthild;
    • Barnekow, Angelika;
    • Rottapel, Robert;
    • Capellá, Gabriel;
    • Vidal, Marc;
    • Astrinidis, Aristotelis;
    • Piekorz, Roland P.;
    • Pujana, Miguel Angel
    Publication type:
    Article
    33

    Genetic and genomic analysis modeling of germline c-MYC overexpression and cancer susceptibility.

    Published in:
    BMC Genomics, 2008, v. 9, p. 1, doi. 10.1186/1471-2164-9-12
    By:
    • Solé, Xavier;
    • Hernández, Pilar;
    • de Heredia, Miguel López;
    • Armengol, Lluís;
    • Rodríguez-Santiago, Benjamín;
    • Gómez, Laia;
    • Maxwell, Christopher A.;
    • Aguiló, Fernando;
    • Condom, Enric;
    • Abril, Jesús;
    • Pérez-Jurado, Luis;
    • Estivill, Xavier;
    • Nunes, Virginia;
    • Capellá, Gabriel;
    • Gruber, Stephen B.;
    • Moreno, Víctor;
    • Pujana, Miguel Angel
    Publication type:
    Article
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    Correction: Dueñas et al. Assessing Effectiveness of Colonic and Gynecological Risk Reducing Surgery in Lynch Syndrome Individuals. Cancers 2020, 12 , 3419.

    Published in:
    2021
    By:
    • Dueñas, Nuria;
    • Navarro, Matilde;
    • Teulé, Àlex;
    • Solanes, Ares;
    • Salinas, Mònica;
    • Iglesias, Sílvia;
    • Munté, Elisabet;
    • Ponce, Jordi;
    • Guardiola, Jordi;
    • Kreisler, Esther;
    • Carballas, Elvira;
    • Cuadrado, Marta;
    • Matias-Guiu, Xavier;
    • de la Ossa, Napoleón;
    • Lop, Joan;
    • Lázaro, Conxi;
    • Capellá, Gabriel;
    • Pineda, Marta;
    • Brunet, Joan
    Publication type:
    Correction Notice
    38

    Assessing Effectiveness of Colonic and Gynecological Risk Reducing Surgery in Lynch Syndrome Individuals.

    Published in:
    Cancers, 2020, v. 12, n. 11, p. 3419, doi. 10.3390/cancers12113419
    By:
    • Dueñas, Nuria;
    • Navarro, Matilde;
    • Teulé, Àlex;
    • Solanes, Ares;
    • Salinas, Mònica;
    • Iglesias, Sílvia;
    • Munté, Elisabet;
    • Ponce, Jordi;
    • Guardiola, Jordi;
    • Kreisler, Esther;
    • Carballas, Elvira;
    • Cuadrado, Marta;
    • Matias-Guiu, Xavier;
    • de la Ossa, Napoleón;
    • Lop, Joan;
    • Lázaro, Conxi;
    • Capellá, Gabriel;
    • Pineda, Marta;
    • Brunet, Joan
    Publication type:
    Article
    39

    Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients.

    Published in:
    Cancers, 2020, v. 12, n. 4, p. 829, doi. 10.3390/cancers12040829
    By:
    • del Valle, Jesús;
    • Rofes, Paula;
    • Moreno-Cabrera, José Marcos;
    • López-Dóriga, Adriana;
    • Belhadj, Sami;
    • Vargas-Parra, Gardenia;
    • Teulé, Àlex;
    • Cuesta, Raquel;
    • Muñoz, Xavier;
    • Campos, Olga;
    • Salinas, Mónica;
    • de Cid, Rafael;
    • Brunet, Joan;
    • González, Sara;
    • Capellá, Gabriel;
    • Pineda, Marta;
    • Feliubadaló, Lídia;
    • Lázaro, Conxi
    Publication type:
    Article
    40

    Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 8, p. 864, doi. 10.1038/ejhg.2012.270
    By:
    • Feliubadaló, Lídia;
    • Lopez-Doriga, Adriana;
    • Castellsagué, Ester;
    • del Valle, Jesús;
    • Menéndez, Mireia;
    • Tornero, Eva;
    • Montes, Eva;
    • Cuesta, Raquel;
    • Gómez, Carolina;
    • Campos, Olga;
    • Pineda, Marta;
    • González, Sara;
    • Moreno, Victor;
    • Brunet, Joan;
    • Blanco, Ignacio;
    • Serra, Eduard;
    • Capellá, Gabriel;
    • Lázaro, Conxi
    Publication type:
    Article
    41

    Genetic variant in the telomerase gene modifies cancer risk in Lynch syndrome.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 5, p. 511, doi. 10.1038/ejhg.2012.204
    By:
    • Bellido, Fernando;
    • Guinó, Elisabet;
    • Jagmohan-Changur, Shantie;
    • Seguí, Nuria;
    • Pineda, Marta;
    • Navarro, Matilde;
    • Lázaro, Conxi;
    • Blanco, Ignacio;
    • Vasen, Hans FA;
    • Moreno, Victor;
    • Capellá, Gabriel;
    • Wijnen, Juul T;
    • Valle, Laura
    Publication type:
    Article
    42

    MLH1 methylation screening is effective in identifying epimutation carriers.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1256, doi. 10.1038/ejhg.2012.136
    By:
    • Pineda, Marta;
    • Mur, Pilar;
    • Iniesta, María Dolores;
    • Borràs, Ester;
    • Campos, Olga;
    • Vargas, Gardenia;
    • Iglesias, Sílvia;
    • Fernández, Anna;
    • Gruber, Stephen B;
    • Lázaro, Conxi;
    • Brunet, Joan;
    • Navarro, Matilde;
    • Blanco, Ignacio;
    • Capellá, Gabriel
    Publication type:
    Article
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    Orthotopic Models of Human Pancreatic Cancer.

    Published in:
    Annals of the New York Academy of Sciences, 1999, v. 880, n. 1, p. 103, doi. 10.1111/j.1749-6632.1999.tb09514.x
    By:
    • CAPELLÁ, GABRIEL;
    • FARRÉ, LOURDES;
    • VILLANUEVA, ALBERTO;
    • REYES, GERMÁN;
    • GARCÍ, CARME;
    • TARAFA, GEMMA;
    • LLUÍS, FÈLIX
    Publication type:
    Article
    46

    MLH1 c.27G>A (p.Arg9=) is a synonymous likely/pathogenic variant underlying variably mosaic constitutional MLH1 methylation in Lynch syndrome.

    Published in:
    Familial Cancer, 2025, v. 24, n. 3, p. 1, doi. 10.1007/s10689-025-00482-8
    By:
    • Alvarez, Rocio;
    • Climent-Cantó, Paula;
    • Shin, GiWon;
    • Aguirre, Francesca Paola;
    • Zhou, Lisa;
    • Hazelett, Dennis J.;
    • Larson, Brent K.;
    • Vara, Covadonga;
    • Capellá, Gabriel;
    • Castellanos, Víctor Lorca;
    • Rubio, Pilar Garre;
    • Desseigne, Françoise;
    • Ji, Hanlee;
    • Cook, Jackie;
    • Durkie, Miranda;
    • Pineda, Marta;
    • Leclerc, Julie;
    • Hitchins, Megan P.
    Publication type:
    Article
    47

    First international workshop of the ATM and cancer risk group (4-5 December 2019).

    Published in:
    Familial Cancer, 2022, v. 21, n. 2, p. 211, doi. 10.1007/s10689-021-00248-y
    By:
    • Lesueur, Fabienne;
    • Easton, Douglas F.;
    • Renault, Anne-Laure;
    • Tavtigian, Sean V.;
    • Bernstein, Jonine L.;
    • Kote-Jarai, Zsofia;
    • Eeles, Rosalind A.;
    • Plaseska-Karanfia, Dijana;
    • Feliubadaló, Lidia;
    • Spanish ATM working group;
    • Moles-Fernández, Alejandro;
    • Santamariña-Pena, Marta;
    • Sánchez, Alysson T.;
    • López-Novo, Anael;
    • Porras, Luz-Marina;
    • Blanco, Ana;
    • Capellá, Gabriel;
    • de la Hoya, Miguel;
    • Molina, Ignacio J.;
    • Osorio, Ana
    Publication type:
    Article
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    Aromatic DNA adducts and polymorphisms in metabolic genes in healthy adults: findings from the EPIC-Spain cohort.

    Published in:
    Carcinogenesis, 2009, v. 30, n. 6, p. 968, doi. 10.1093/carcin/bgp062
    By:
    • Antonio Agudo;
    • Marco Peluso;
    • Núria Sala;
    • Gabriel Capellá;
    • Armelle Munnia;
    • Sara Piro;
    • Fátima Marín;
    • Raquel Ibáñez;
    • Pilar Amiano;
    • M.José Tormo;
    • Eva Ardanaz;
    • Aurelio Barricarte;
    • M.Dolores Chirlaque;
    • Miren Dorronsoro;
    • Nerea Larrañaga;
    • Carmen Martínez;
    • Carmen Navarro;
    • J.Ramón Quirós;
    • M.José Sánchez;
    • Carlos A. González
    Publication type:
    Article
    50

    Integrative analysis of a cancer somatic mutome.

    Published in:
    Molecular Cancer, 2007, v. 6, p. 13, doi. 10.1186/1476-4598-6-13
    By:
    • Hernández, Pilar;
    • Solé, Xavier;
    • Valls, Joan;
    • Moreno, Víctor;
    • Capellá, Gabriel;
    • Urruticoechea, Ander;
    • Pujana, Miguel Angel
    Publication type:
    Article