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

Cell Senescence-Related Pathways Are Enriched in Breast Cancer Patients With Late Toxicity After Radiotherapy and Low Radiation-Induced Lymphocyte Apoptosis

by Ester Aguado-Flor, María J. Fuentes-Raspall, Ricardo Gonzalo, Carmen Alonso, Teresa Ramón y Cajal, David Fisas, Alejandro Seoane, Álex Sánchez-Pla, Álex Sánchez-Pla, Jordi Giralt, Jordi Giralt, Orland Díez, Orland Díez, Sara Gutiérrez-Enríquez
Published 2022-05-01

Clinical consequences of BRCA2 hypomorphism

by Laia Castells-Roca, Sara Gutiérrez-Enríquez, Sandra Bonache, Massimo Bogliolo, Estela Carrasco, Miriam Aza-Carmona, Gemma Montalban, Núria Muñoz-Subirana, Roser Pujol, Cristina Cruz, Alba Llop-Guevara, María J. Ramírez, Cristina Saura, Adriana Lasa, Violeta Serra, Orland Diez, Judith Balmaña, Jordi Surrallés
Published 2021-09-01

Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases.

by Ana Blanco, Miguel de la Hoya, Ana Osorio, Orland Diez, María Dolores Miramar, Mar Infante, Cristina Martinez-Bouzas, Asunción Torres, Adriana Lasa, Gemma Llort, Joan Brunet, Begoña Graña, Pedro Perez Segura, María José Garcia, Sara Gutiérrez-Enríquez, Ángel Carracedo, María-Isabel Tejada, Eladio A Velasco, María-Teresa Calvo, Judith Balmaña, Javier Benitez, Trinidad Caldés, Ana Vega
Published 2013-01-01

Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1

by Gonzalo Hernández, María José Ramírez, Jordi Minguillón, Paco Quiles, Gorka Ruiz de Garibay, Miriam Aza-Carmona, Massimo Bogliolo, Roser Pujol, Rosario Prados-Carvajal, Juana Fernández, Nadia García, Adrià López, Sara Gutiérrez-Enríquez, Orland Diez, Javier Benítez, Mónica Salinas, Alex Teulé, Joan Brunet, Paolo Radice, Paolo Peterlongo, Detlev Schindler, Pablo Huertas, Xose S Puente, Conxi Lázaro, Miquel Àngel Pujana, Jordi Surrallés
Published 2018-03-01

Contouring variation affects estimates of normal tissue complication probability for breast fibrosis after radiotherapy

by Tanwiwat Jaikuna, Eliana Vasquez Osorio, David Azria, Jenny Chang-Claude, Maria Carmen De Santis, Sara Gutiérrez-Enríquez, Marcel van Herk, Peter Hoskin, Maarten Lambrecht, Zoe Lingard, Petra Seibold, Alejandro Seoane, Elena Sperk, R Paul Symonds, Christopher J. Talbot, Tiziana Rancati, Tim Rattay, Victoria Reyes, Barry S. Rosenstein, Dirk de Ruysscher, Ana Vega, Liv Veldeman, Adam Webb, Catharine M.L. West, Marianne C. Aznar
Published 2023-12-01

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

Treatment time and circadian genotype interact to influence radiotherapy side-effects. A prospective European validation study using the REQUITE cohort

by Adam J. Webb, Emily Harper, Tim Rattay, Miguel E. Aguado-Barrera, David Azria, Celine Bourgier, Muriel Brengues, Erik Briers, Renée Bultijnck, Jenny Chang-Claude, Ananya Choudhury, Alessandro Cicchetti, Dirk De Ruysscher, Maria Carmen De Santis, Alison M. Dunning, Rebecca M. Elliott, Laura Fachal, Antonio Gómez-Caamaño, Sara Gutiérrez-Enríquez, Kerstie Johnson, Ramón Lobato-Busto, Sarah L. Kerns, Giselle Post, Tiziana Rancati, Victoria Reyes, Barry S. Rosenstein, Petra Seibold, Alejandro Seoane, Paloma Sosa-Fajardo, Elena Sperk, Begoña Taboada-Valladares, Riccardo Valdagni, Ana Vega, Liv Veldeman, Tim Ward, Catharine M. West, R. Paul Symonds, Christopher J. Talbot
Published 2022-10-01

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

Development and Optimization of a Machine-Learning Prediction Model for Acute Desquamation After Breast Radiation Therapy in the Multicenter REQUITE Cohort

by Mahmoud Aldraimli, PhD, Sarah Osman, PhD, Diana Grishchuck, MSc, Samuel Ingram, MSc, Robert Lyon, PhD, Anil Mistry, MSc, Jorge Oliveira, PhD, Robert Samuel, MBChB, Leila E.A. Shelley, PhD, Daniele Soria, PhD, Miriam V. Dwek, PhD, Miguel E. Aguado-Barrera, MD, PhD, David Azria, MD, Jenny Chang-Claude, PhD, Alison Dunning, PhD, Alexandra Giraldo, MD, Sheryl Green, MD, Sara Gutiérrez-Enríquez, PhD, Carsten Herskind, PhD, Hans van Hulle, MD, Maarten Lambrecht, MD, Laura Lozza, MD, Tiziana Rancati, MSc, Victoria Reyes, MD, Barry S. Rosenstein, PhD, Dirk de Ruysscher, MD, Maria C. de Santis, MD, Petra Seibold, PhD, Elena Sperk, MD, R. Paul Symonds, MD, Hilary Stobart, Begoña Taboada-Valadares, MD, Christopher J. Talbot, PhD, Vincent J.L. Vakaet, MD, Ana Vega, PhD, Liv Veldeman, MD, PhD, Marlon R. Veldwijk, PhD, Adam Webb, PhD, Caroline Weltens, MD, Catharine M. West, PhD, Thierry J. Chaussalet, PhD, Tim Rattay, MBChB, PhD
Published 2022-05-01

External Validation of a Predictive Model for Acute Skin Radiation Toxicity in the REQUITE Breast Cohort

by Tim Rattay, Petra Seibold, Miguel E. Aguado-Barrera, Miguel E. Aguado-Barrera, Manuel Altabas, David Azria, Gillian C. Barnett, Renée Bultijnck, Renée Bultijnck, Jenny Chang-Claude, Jenny Chang-Claude, Ananya Choudhury, Charlotte E. Coles, Alison M. Dunning, Rebecca M. Elliott, Marie-Pierre Farcy Jacquet, Sara Gutiérrez-Enríquez, Kerstie Johnson, Anusha Müller, Giselle Post, Tiziana Rancati, Victoria Reyes, Barry S. Rosenstein, Dirk De Ruysscher, Dirk De Ruysscher, Maria C. de Santis, Elena Sperk, Hilary Stobart, R. Paul Symonds, Begoña Taboada-Valladares, Begoña Taboada-Valladares, Ana Vega, Ana Vega, Liv Veldeman, Liv Veldeman, Adam J. Webb, Catharine M. West, Riccardo Valdagni, Riccardo Valdagni, Riccardo Valdagni, Christopher J. Talbot, REQUITE consortium, Yolande Lievens, Marc van Eijkeren, Piet Ost, Valérie Fonteyne, Christel Monten, Wilfried De Neve, Stephanie Peeters, Karin Haustermans, Caroline Weltens, Gilles Defraene, Maarten Lambrecht, Erik van Limberghen, Erik Briers, Celine Bourgier, Muriel Brengues, Roxana Draghici, Francoise Bons, Thomas Blaschke, Christian Weiß, Irmgard Helmbold, Christian Weißenberger, Petra Stegmaier, Johannes Claßen, Ulrich Giesche, Marie-Luise Sautter-Bihl, Burkhard Neu, Thomas Schnabel, Michael Ehmann, Benjamin Gauter-Fleckenstein, Carsten Herskind, Marlon Veldwijk, Jörg Schäfer, Tommaso Giandini, Marzia Franceschini, Claudia Sangalli, Barbara Avuzzi, Sara Morlino, Laura Lozza, Gabriele Pietro, Elena Delmastro, Elisabetta Garibaldi, Alessandro Cicchetti, Ben Vanneste, Bibiana Piqué-Leiva, Meritxel Molla, Alexandra Giraldo, Monica Ramos, Ramon Lobato-Busto, Paloma Sosa-Fajardo, Laura Torrado Moya, Isabel Dominguez-Rios, Irene Fajardo-Paneque, Patricia Calvo-Crespo, Ana Carballo, Paula Peleteiro, Olivia-Fuentes-Rios, Antonio Gomez-Caamano, Victoria Harrop, Debbie Payne, Manjusha Keni, Samuel Lavers, Simon Wright, Sridhar Thiagarajan, Luis Aznar-Garcia, Kiran Kancherla, Christopher Kent, Subramaniam Vasanthan, Donna Appleton, Monika Kaushik, Frances Kenny, Hazem Khout, Jaroslaw Krupa, Kelly V. Lambert, Simon Pilgrim, Sheila Shokuhi, Kalliope Valassiadou, Ion Bioangiu, Kufre Sampson, Ahmed Osman, Corinne Faivre-Finn, Karen Foweraker, Abigail Pascoe, Claire P. Esler, Tim Ward, Daniel S. Higginson, Richard G. Stock, Sheryl Green
Published 2020-10-01