SEOM clinical guideline on heritable TP53-related cancer syndrome (2022)

por Sánchez-Heras, Ana Beatriz, Ramon y Cajal, Teresa, Pineda, Marta, Aguirre, Elena, Graña, Begoña, Chirivella, Isabel, Balmaña, Judit, Brunet, Joan
Publicado 2023

Longer Telomeres Are Associated with Cancer Risk in MMR-Proficient Hereditary Non-Polyposis Colorectal Cancer

por Seguí, Nuria, Guinó, Elisabet, Pineda, Marta, Navarro, Matilde, Bellido, Fernando, Lázaro, Conxi, Blanco, Ignacio, Moreno, Victor, Capellá, Gabriel, Valle, Laura
Publicado 2014

The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in Brain Malignancies from Young Individuals

por Carrato, Cristina, Sanz, Carolina, Muñoz-Mármol, Ana María, Blanco, Ignacio, Pineda, Marta, Del Valle, Jesús, Dámaso, Estela, Esteller, Manel, Musulen, Eva
Publicado 2021

CNVfilteR: an R/Bioconductor package to identify false positives produced by germline NGS CNV detection tools

por Moreno-Cabrera, José Marcos, del Valle, Jesús, Castellanos, Elisabeth, Feliubadaló, Lidia, Pineda, Marta, Serra, Eduard, Capellá, Gabriel, Lázaro, Conxi, Gel, Bernat
Publicado 2021

Telomere Length and Genetic Anticipation in Lynch Syndrome

por Seguí, Nuria, Pineda, Marta, Guinó, Elisabet, Borràs, Ester, Navarro, Matilde, Bellido, Fernando, Moreno, Victor, Lázaro, Conxi, Blanco, Ignacio, Capellá, Gabriel, Valle, Laura
Publicado 2013

Evaluation of CNV detection tools for NGS panel data in genetic diagnostics

por Moreno-Cabrera, José Marcos, del Valle, Jesús, Castellanos, Elisabeth, Feliubadaló, Lidia, Pineda, Marta, Brunet, Joan, Serra, Eduard, Capellà, Gabriel, Lázaro, Conxi, Gel, Bernat
Publicado 2020

Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1

por Mur, Pilar, Viana-Errasti, Julen, García-Mulero, Sandra, Magraner-Pardo, Lorena, Muñoz, Inés G., Pons, Tirso, Capellá, Gabriel, Pineda, Marta, Feliubadaló, Lidia, Valle, Laura
Publicado 2023

RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant

por Rofes, Paula, Pineda, Marta, Feliubadaló, Lídia, Menéndez, Mireia, de Cid, Rafael, Gómez, Carolina, Montes, Eva, Capellá, Gabriel, Brunet, Joan, del Valle, Jesús, Lázaro, Conxi
Publicado 2021

vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines

por Munté, Elisabet, Feliubadaló, Lidia, Pineda, Marta, Tornero, Eva, Gonzalez, Maribel, Moreno-Cabrera, José Marcos, Roca, Carla, Bales Rubio, Joan, Arnaldo, Laura, Capellá, Gabriel, Mosquera, Jose Luis, Lázaro, Conxi
Publicado 2023

Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis

por Mur, Pilar, Elena, Sánchez-Cuartielles, Aussó, Susanna, Aiza, Gemma, Rafael, Valdés-Mas, Pineda, Marta, Navarro, Matilde, Brunet, Joan, Urioste, Miguel, Lázaro, Conxi, Moreno, Victor, Capellá, Gabriel, Puente, Xose S., Valle, Laura
Publicado 2016

Erratum: Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis

por Mur, Pilar, Sánchez-Cuartielles, Elena, Aussó, Susanna, Aiza, Gemma, Valdés-Mas, Rafael, Pineda, Marta, Navarro, Matilde, Brunet, Joan, Urioste, Miguel, Lázaro, Conxi, Moreno, Victor, Capellá, Gabriel, Puente, Xose S., Valle, Laura
Publicado 2016

Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group

por Morak, Monika, Pineda, Marta, Martins, Alexandra, Gaildrat, Pascaline, Tubeuf, Hélène, Drouet, Aurélie, Gómez, Carolina, Dámaso, Estela, Schaefer, Kerstin, Steinke-Lange, Verena, Koehler, Udo, Laner, Andreas, Hauchard, Julie, Chauris, Karine, Holinski-Feder, Elke, Capellá, Gabriel
Publicado 2022

A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape

por Castellanos, Elisabeth, Gel, Bernat, Rosas, Inma, Tornero, Eva, Santín, Sheila, Pluvinet, Raquel, Velasco, Juan, Sumoy, Lauro, del Valle, Jesús, Perucho, Manuel, Blanco, Ignacio, Navarro, Matilde, Brunet, Joan, Pineda, Marta, Feliubadaló, Lidia, Capellá, Gabi, Lázaro, Conxi, Serra, Eduard
Publicado 2017

Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?

por Stradella, Agostina, del Valle, Jesús, Rofes, Paula, Feliubadaló, Lídia, Grau Garces, Èlia, Velasco, Àngela, González, Sara, Vargas, Gardenia, Izquierdo, Ángel, Campos, Olga, Tornero, Eva, Navarro, Matilde, Balmaña-Gelpi, Judith, Capellá, Gabriel, Pineda, Marta, Brunet, Joan, Lázaro, Conxi
Publicado 2019

Sensitivity of cervical cytology in endometrial cancer detection in a tertiary hospital in Spain

por Frias‐Gomez, Jon, Tovar, Eva, Vidal, August, Murgui, Lluis, Ibáñez, Raquel, Peremiquel‐Trillas, Paula, Paytubi, Sonia, Baixeras, Nuria, Zanca, Alba, Ponce, Jordi, Pineda, Marta, Brunet, Joan, de Sanjosé, Silvia, Bosch, Francesc Xavier, Matias‐Guiu, Xavier, Alemany, Laia, Costas, Laura
Publicado 2021

Cost-effectiveness analysis of molecular testing in minimally invasive samples to detect endometrial cancer in women with postmenopausal bleeding

por Peremiquel-Trillas, Paula, Gómez, David, Martínez, José Manuel, Fernández-González, Sergi, Frias-Gomez, Jon, Paytubi, Sonia, Pelegrina, Beatriz, Pineda, Marta, Brunet, Joan, Ponce, Jordi, Matias-Guiu, Xavier, Bosch, Xavier, de Sanjosé, Silvia, Bruni, Laia, Alemany, Laia, Costas, Laura, Díaz, Mireia
Publicado 2023

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

por 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
Publicado 2020

Correction: Dueñas et al. Assessing Effectiveness of Colonic and Gynecological Risk Reducing Surgery in Lynch Syndrome Individuals. Cancers 2020, 12, 3419

por 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
Publicado 2021

MTHFR C677T and A1298C polymorphism’s effect on risk of colorectal cancer in Lynch syndrome

por Wiik, Mariann Unhjem, Negline, Mia, Beisvåg, Vidar, Clapham, Matthew, Holliday, Elizabeth, Dueñas, Nuria, Brunet, Joan, Pineda, Marta, Bonifaci, Nuria, Aretz, Stefan, Klinkhammer, Hannah, Spier, Isabel, Perne, Claudia, Mayr, Andreas, Valle, Laura, Lubinski, Jan, Sjursen, Wenche, Scott, Rodney J., Talseth-Palmer, Bente A.
Publicado 2023

POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance

por Bellido, Fernando, Pineda, Marta, Aiza, Gemma, Valdés-Mas, Rafael, Navarro, Matilde, Puente, Diana A., Pons, Tirso, González, Sara, Iglesias, Silvia, Darder, Esther, Piñol, Virginia, Soto, José Luís, Valencia, Alfonso, Blanco, Ignacio, Urioste, Miguel, Brunet, Joan, Lázaro, Conxi, Capellá, Gabriel, Puente, Xose S., Valle, Laura
Publicado 2016