Publications by authors named "G Raspaglio"
Article Synopsis
- * A rare splicing variant, c.1717-2A>G, was discovered in an Italian male patient, leading to the skipping of two exons and creating a large in-frame deletion, which was confirmed through RNA analysis.
- * This study highlights a unique splicing event caused by a single base change in the PKD2 gene, contributing new understanding of how splicing anomalies affect ADPKD, and suggests a novel mechanism involved in the disease's pathogenesis.
High-grade serous ovarian cancer (HGSOC) is a leading cause of mortality from gynecologic malignancies worldwide. Although a transformative improvement has been shown with the introduction of PARP (poly(ADP-ribose) polymerase) inhibitors, the emergence of resistance to these drugs represents a therapeutic challenge. Hence, expanding our understanding of mechanisms behind the control of PARP1 expression can provide strategic guidance for the translation of novel therapeutic strategies.
View Article and Find Full Text PDFArticle Synopsis
- High-grade serous ovarian cancer (HGSOC) has low survival rates due to late diagnosis and chemotherapy resistance, especially in patients with BRCA1/2-wild type (BRCAwt) mutations.
- Researchers used RNA sequencing on pre-treatment tumor samples from BRCAwt HGSOC patients to identify a gene signature that could predict how well they respond to first-line chemotherapy, classifying patients based on their platinum-free interval (PFI).
- A 42-gene panel was discovered, highlighting the immune system's role in response, and further analysis resulted in a ten-gene signature that can successfully predict chemotherapy response in BRCAwt patients.
Cervical cancer (CC) is the fourth most common cause of cancer-related death in women. According to international guidelines, a standard treatment for locally advanced cervical cancer (LACC) consists of exclusive concurrent chemoradiation treatment (CRT). However, chemoradioresistance and subsequent relapse and metastasis of cancer occur in many patients, and survival for these women has generally remained poor.
View Article and Find Full Text PDFLong non-coding RNAs (lncRNAs) are emerging as regulators in cancer development and progression, and aberrant lncRNA profiles have been reported in several cancers. Here, we evaluated the potential of using the maternally expressed gene 3 (MEG3) tissue level as a prognostic marker in high-grade serous ovarian cancer (HGSOC), the most common and deadliest gynecologic malignancy. To the aim of the study, we measured MEG3 transcript levels in 90 pre-treatment peritoneal biopsies.
View Article and Find Full Text PDF