- Article
RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants
- Elena Bueno-Martínez,
- Lara Sanoguera-Miralles,
- Alberto Valenzuela-Palomo,
- Víctor Lorca,
- Alicia Gómez-Sanz,
- Sara Carvalho,
- Jamie Allen,
- Mar Infante,
- Pedro Pérez-Segura and
- Conxi Lázaro
- + 5 authors
RAD51D loss-of-function variants increase lifetime risk of breast and ovarian cancer. Splicing disruption is a frequent pathogenic mechanism associated with variants in susceptibility genes. Herein, we have assessed the splicing and clinical impact o...

