Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes

by Alejandro Moles-Fernández, Joanna Domènech-Vivó, Anna Tenés, Judith Balmaña, Orland Diez, Sara Gutiérrez-Enríquez
Published 2021-07-01

Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

by Alejandro Moles-Fernández, Laura Duran-Lozano, Gemma Montalban, Sandra Bonache, Irene López-Perolio, Mireia Menéndez, Mireia Menéndez, Mireia Menéndez, Marta Santamariña, Raquel Behar, Ana Blanco, Estela Carrasco, Adrià López-Fernández, Neda Stjepanovic, Neda Stjepanovic, Judith Balmaña, Judith Balmaña, Gabriel Capellá, Gabriel Capellá, Gabriel Capellá, Marta Pineda, Marta Pineda, Marta Pineda, Ana Vega, Conxi Lázaro, Conxi Lázaro, Conxi Lázaro, Miguel de la Hoya, Orland Diez, Orland Diez, Sara Gutiérrez-Enríquez
Published 2018-09-01

Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects

by Na Li, Magnus Zethoven, Simone McInerny, Lisa Devereux, Yu-Kuan Huang, Niko Thio, Dane Cheasley, Sara Gutiérrez-Enríquez, Alejandro Moles-Fernández, Orland Diez, Tu Nguyen-Dumont, Melissa C. Southey, John L. Hopper, Jacques Simard, Martine Dumont, Penny Soucy, Alfons Meindl, Rita Schmutzler, Marjanka K. Schmidt, Muriel A. Adank, Irene L. Andrulis, Eric Hahnen, Christoph Engel, Fabienne Lesueur, Elodie Girard, Susan L. Neuhausen, Elad Ziv, Jamie Allen, Douglas F. Easton, Rodney J. Scott, Kylie L. Gorringe, Paul A. James, Ian G. Campbell
Published 2021-05-01

A RAD51 assay feasible in routine tumor samples calls PARP inhibitor response beyond BRCA mutation

by Marta Castroviejo‐Bermejo, Cristina Cruz, Alba Llop‐Guevara, Sara Gutiérrez‐Enríquez, Mandy Ducy, Yasir Hussein Ibrahim, Albert Gris‐Oliver, Benedetta Pellegrino, Alejandra Bruna, Marta Guzmán, Olga Rodríguez, Judit Grueso, Sandra Bonache, Alejandro Moles‐Fernández, Guillermo Villacampa, Cristina Viaplana, Patricia Gómez, Maria Vidal, Vicente Peg, Xavier Serres‐Créixams, Graham Dellaire, Jacques Simard, Paolo Nuciforo, Isabel T Rubio, Rodrigo Dienstmann, J Carl Barrett, Carlos Caldas, José Baselga, Cristina Saura, Javier Cortés, Olivier Déas, Jos Jonkers, Jean‐Yves Masson, Stefano Cairo, Jean‐Gabriel Judde, Mark J O'Connor, Orland Díez, Judith Balmaña, Violeta Serra
Published 2018-12-01