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

Non-Lynch Familial and Early-Onset Colorectal Cancer Explained by Accumulation of Low-Risk Genetic Variants

por Mur, Pilar, Bonifaci, Nuria, Díez-Villanueva, Anna, Munté, Elisabet, Alonso, Maria Henar, Obón-Santacana, Mireia, Aiza, Gemma, Navarro, Matilde, Piñol, Virginia, Brunet, Joan, Tomlinson, Ian, Capellá, Gabriel, Moreno, Victor, Valle, Laura
Publicado 2021

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

BARD1 Pathogenic Variants Are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort

por 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
Publicado 2021