A5001138216- RNA Research and Splicing
- RNA modifications and cancer
- DNA Repair Mechanisms
- BRCA gene mutations in cancer
- PARP inhibition in cancer therapy
- RNA and protein synthesis mechanisms
Vall d'Hebron Institute of Oncology
2021-2024
Poly (ADP-ribose) polymerase 1 and 2 (PARP1/2) inhibitors (PARPi) are targeted therapies approved for homologous recombination repair (HRR)-deficient breast, ovarian, pancreatic, prostate cancers. Since inhibition of PARP1 is sufficient to cause synthetic lethality in tumors with deficiency (HRD), selective such as saruparib (AZD5305) being developed. It expected that leads a safer profile facilitates its combination other DNA damage inhibitors. Here, we aimed characterize the antitumor...
The contribution of deep intronic splice-altering variants to hereditary breast and ovarian cancer (HBOC) is unknown. Current computational in silico tools predict spliceogenic leading pseudoexons have limited efficiency. We assessed the performance SpliceAI tool combined with ESRseq scores identify by affecting cryptic sites or splicing regulatory elements (SREs) using literature experimental datasets. Our results 233 published showed that SpliceAI, a 0.05 threshold, predicts splice sites,...