Publications by authors named "V Gismondi"
Objective: Prostate cancer (PCa) is the most common cause of cancer-related deaths in men worldwide. BRCA1/2 genes are reported altered in approximately 1% and 8% of PCa cases, respectively. To date, formalin-fixed paraffin-embedded (FFPE) tissues have a consolidate use in the clinical practice, but with a significant drawback related to DNA/RNA degradation during the pre-analytical process.
View Article and Find Full Text PDFBackground: Sodium-glucose cotransporter 2 inhibitors (SGLT2i) lower ambulatory blood pressure (ABP) in patients with type 2 diabetes mellitus; whether the same holds true in diabetic kidney disease (DKD) is unknown. This information is critical to the knowledge of mechanisms of nephroprotection and safety of this therapy.
Methods: This multicenter prospective study evaluates the changes in ABP after 12 weeks of dapagliflozin 10 mg/day in a cohort of patients with type 2 DKD and glomerular filtration rate (GFR) >25 mL/min/1.
Background: Universal screening of colorectal cancer (CRC) patients for Lynch syndrome (LS) through MisMatch Repair (MMR) testing is recommended. BRAF V600E mutation and/or MLH1 promoter methylation (Reflex Testing, RefT)generally rule out LS in MLH1-deficient (dMLH1) patients. We estimated the impact of RefTon genetic counseling (GC) and on the diagnostic yield of genetic testing (GT).
View Article and Find Full Text PDFEndometrial cancer (EC) is the most frequent gynecological cancer. The ESGO/ESTRO/ESP 2020 guidelines identify prognostic groups based on morpho-molecular characteristics. This study aims to evaluate the clinical applicability of NGS analysis to define an appropriate risk class and to improve the diagnostic and prognostic stratification of ECs.
View Article and Find Full Text PDFArticle Synopsis
- Healthy carriers of BRCA1/2 pathogenic variants can benefit from risk-reducing measures, but cascade testing to identify them has not been widely implemented in Italy.
- This study analyzed the characteristics of BRCA1/2 cascade testing in 213 families diagnosed with hereditary breast and ovarian cancer (HBOC) at two Italian genetics centers between 2017-2019.
- Findings showed that the uptake of cascade testing was only 22.8%, influenced by factors such as gender, age, familial relationship to the proband, and whether the pathogenic variant was known to segregate in the family.