A5065009181- BRCA gene mutations in cancer
- Cancer Genomics and Diagnostics
- Cancer Immunotherapy and Biomarkers
- Genetic factors in colorectal cancer
- Nutrition, Genetics, and Disease
- Cardiovascular Disease and Adiposity
- CRISPR and Genetic Engineering
- Immune Cell Function and Interaction
- Chemotherapy-induced cardiotoxicity and mitigation
- Genomics and Rare Diseases
- DNA Repair Mechanisms
- Cardiovascular, Neuropeptides, and Oxidative Stress Research
- Cancer Research and Treatments
- Ubiquitin and proteasome pathways
- Lung Cancer Treatments and Mutations
- Hippo pathway signaling and YAP/TAZ
- PARP inhibition in cancer therapy
- Microtubule and mitosis dynamics
- Immunotherapy and Immune Responses
- Gastric Cancer Management and Outcomes
- Inflammatory Biomarkers in Disease Prognosis
- Cardiovascular Effects of Exercise
- PI3K/AKT/mTOR signaling in cancer
- Electron Spin Resonance Studies
- Hepatocellular Carcinoma Treatment and Prognosis
University of Palermo
2019-2023
Azienda Ospedaliera Universitaria Policlinico "Paolo Giaccone" di Palermo
2020-2021
Hereditary breast cancer (BC), ovarian (OC), and pancreatic (PC) are the major BRCA-associated tumours. However, some BRCA1/2-wild-type (wt) patients with a strong personal and/or family history of need further genetic testing through multi-gene panel containing other high- moderate-risk susceptibility genes.
Background: Several available data suggest the association between specific molecular subtypes and BRCA1/2 mutational status. Previous investigations showed pathogenic variants (PVs) in genomic regions phenotypic variations of cancer relative risk, while role PV type location determining breast (BC) features remains still unclear. The aim this research was to describe germline PVs triple-negative (TNBC) versus luminal-like BC their potential leverage on phenotype. Patients & methods: We...
Patients with unilateral breast cancer (UBC) have an increased risk of developing bilateral (BBC). The annual contralateral BC is about 0.5%, but increases by up to 3% in BRCA1 or BRCA2 pathogenic variant (PV) carriers. Our study was aimed evaluate whether all BBC patients should be offered multi-gene panel testing, regardless their family history and age at diagnosis. We retrospectively collected clinical information 139 genetically tested for germline PVs different susceptibility genes...
About 10-20% of breast/ovarian (BC/OC) cancer patients undergoing germline BRCA1/2 genetic testing have been shown to harbor Variants Uncertain Significance (VUSs). Since little is known about the prevalence VUS in Southern Italy, our study aimed at describing spectrum these variants detected BC/OC order improve identification potentially high-risk BRCA helpful patient clinical management. Eight hundred and seventy-four BC or OC patients, enrolled from October 2016 December 2020 "Sicilian...
Abstract Background The most common subtype of ovarian cancer (OC) showing immunogenic potential is represented by the high-grade serous (HGSOC), which characterized presence tumor-infiltrating immune cells able to modulate response. Because several studies showed a close correlation between OC patient’s clinical outcome and expression programmed cell death protein-1 or its ligand (PD-1/PD-L1), aim our study was investigate if plasma levels immunomodulatory proteins may predict prognosis...
The most common subtype of ovarian cancer (OC) is the high-grade serous carcinoma (HGSOC), accounting for 70%–80% all OC deaths. Although HGSOC a potentially immunogenic tumor, clinical studies assessing effectiveness inhibitors programmed death protein and its ligand (PD-1/PD-L1) in patients so far showed only response rates <15%. However, recent revealed an interesting prognostic role plasma PD-1/PD-L1 other circulating immunoregulatory molecules, such as B- T-lymphocyte attenuator...
Lynch syndrome (LS) is an inherited genetic condition associated with increased predisposition to colorectal cancer (CRC) and other tumors caused by germline mutations in Mismatch Repair (MMR) or EPCAM genes. The identification of LS carriers currently based on testing subjects MMR-deficient (dMMR) fulfilling clinical criteria, but the most efficient strategies select patients who should be offered are yet not well defined. In order assess suitable selection mode identify LS-related CRC...
The epicardial adipose tissue (EAT) is the visceral fat located between myocardium and pericardium. We aimed to perform a longitudinal evaluation of using an advanced computer-assisted approach in population patients undergoing Cardiac CT (CCT) during statin administration, relation their body mass index (BMI). retrospectively enrolled 95 [mean age 62 ± 10 years; 68 males (72%) 27 females (28%)] CCT for suspected coronary artery disease administration. was performed at two subsequent time...
Gemcitabine is commonly used for various solid organ malignancies with rarely reported cardiac side effects such as cardiomyopathy. Pazopanib usually can cause arterial hypertension but cases of heart failure have recently been reported. We describe a case fatal after treatment gemcitabine and pazopanib in 55-year-old female sarcoma. Patient developed left ventricular dysfunction acute 22 days which led to death. Physicians should be aware the cardiotoxicity risk when managing use especially...