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A RAD51 assay feasible in routine tumor samples calls PARP inhibitor response beyond BRCA mutation.
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
Apr 29, 2019
Poly(ADP-ribose) polymerase (PARP) inhibitors (PARPi) are effective in cancers with defective homologous recombination DNA repair (HRR), including BRCA1/2-related cancers. A test to identify additional HRR-deficient tumors will...
Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants.
Alberto Valenzuela-Palomo, Elena Bueno-Martínez, Lara Sanoguera-Miralles, Víctor Lorca, Eugenia Fraile-Bethencourt, Ada Esteban-Sánchez, Susana Gómez-Barrero, Sara Carvalho, Jamie Allen, Alicia García-Álvarez, Pedro Pérez-Segura, Leila Dorling, Douglas F Easton, Peter Devilee, Maaike PG Vreeswijk, Miguel de la Hoya, Eladio A Velasco
Jan 07, 2022
PALB2 loss-of-function variants confer high risk of developing breast cancer. Here we present a systematic functional analysis of PALB2 splice-site variants detected in approximately 113,000 women in the large-scale sequencing...
PALB2 VUS aberrant splicing Breast Cancer clinical interpretation functional assay minigene splicing susceptibility genes Alternative Splicing Biomarkers Tumor Breast Neoplasms Case-Control Studies Databases Genetic Exons Fanconi Anemia Complementation Group N Protein Female Humans MCF-7 Cells Protein Isoforms RNA Splice Sites