A5091304067- Cardiomyopathy and Myosin Studies
- Genetic factors in colorectal cancer
- Cardiovascular Effects of Exercise
- BRCA gene mutations in cancer
- DNA Repair Mechanisms
- Genomics and Rare Diseases
- Colorectal Cancer Treatments and Studies
- Cancer Genomics and Diagnostics
- Melanoma and MAPK Pathways
- Cardiovascular Function and Risk Factors
- Congenital Heart Disease Studies
- CRISPR and Genetic Engineering
- FOXO transcription factor regulation
- Cardiac electrophysiology and arrhythmias
- Williams Syndrome Research
- Viral Infections and Immunology Research
- Hippo pathway signaling and YAP/TAZ
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Studies on Chitinases and Chitosanases
- Hedgehog Signaling Pathway Studies
- Delphi Technique in Research
- Colorectal Cancer Surgical Treatments
- PARP inhibition in cancer therapy
- Protist diversity and phylogeny
- Cutaneous lymphoproliferative disorders research
Sapienza University of Rome
2016-2024
Azienda Ospedaliera Sant'Andrea
2020-2023
CTO Andrea Alesini
2020
University of Bari Aldo Moro
2015
Medical Genetics Center
2015
Mario Negri Sud Foundation
2012-2013
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity multiple cancer syndrome genes. Independent data types currently incorporated in the model assessing BRCA1 and BRCA2 variants include clinically calibrated prior probability based on location bioinformatic prediction effect, co-segregation, family history profile, co-occurrence with a pathogenic same gene, breast tumor pathology, case-control information. Research...
SMYD3 is a histone lysine methyltransferase that plays an important role in transcriptional activation as member of RNA polymerase complex, and its oncogenic has been described different cancer types. We studied the expression activity preclinical model colorectal (CRC) found it strongly upregulated throughout tumorigenesis both at mRNA protein level. Our results also showed RNAi‐mediated ablation impairs CRC cell proliferation indicating required for proper growth. These data, together with...
Background PIK3CA-related overgrowth spectrum (PROS) include a group of disorders that affect only the terminal portion limb, such as type I macrodactyly, and conditions like fibroadipose (FAO), megalencephaly-capillary malformation (MCAP) syndrome, congenital lipomatous asymmetric trunk, lymphatic, capillary, venous, combined-type vascular malformations, epidermal nevi, skeletal spinal anomalies (CLOVES) syndrome Hemihyperplasia Multiple Lipomatosis (HHML). Heterozygous postzygotic PIK3CA...
Prostate cancer (PCa) is the second leading cause of cancer-related death in men; however, molecular mechanisms to its development and progression are not yet fully elucidated. Of note, it has been recently shown that conditional stk11 knockout mice develop atypical hyperplasia prostate intraepithelial neoplasia (PIN). We reported an inverse correlation between activity STK11/AMPK pathway MAPK/p38 cascade HIF1A-dependent malignancies. Furthermore, overactivation was detected benign...
Sequencing of sarcomere protein genes in patients fulfilling the clinical diagnostic criteria for hypertrophic cardiomyopathy (HCM) identifies a disease-causing mutation 35% to 60% cases. Age at diagnosis and family history may increase yield mutations screening. In order assess whether Next-Generation (NGS) fulfil molecular needs HCM, we included 17 HCM-related sequencing panel run on PGM IonTorrent. We selected 70 HCM patients, 35 with early (≤25 years) late (≥65 disease onset. All samples...
The role of genetic testing over the clinical and functional variables, including data from cardiopulmonary exercise test (CPET), in hypertrophic cardiomyopathy (HCM) risk stratification remains unclear. A retrospective genotype–phenotype correlation was performed to analyze possible differences between patients with without likely pathogenic/pathogenic (LP/P) variants. total 371 HCM were screened at least for main sarcomeric genes MYBPC3 (myosin binding protein C), MYH7 (β-myosin heavy...
Molecular analysis of BRCA1 (MIM# 604370) and BRCA2 (MIM #600185) genes is essential for familial breast ovarian cancer prevention treatment. An efficient, rapid, cost-effective accurate strategy the detection pathogenic variants crucial. Mutations BRCA1/2 includes screening single nucleotide (SNVs), small insertions or deletions (indels), Copy Number Variations (CNVs). Sanger sequencing unable to identify CNVs therefore Multiplex Ligation Probe amplification (MLPA) Amplicon Quantification...
Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease, characterized by the presence of unexplained left ventricular hypertrophy. This condition often associated with electrocardiographic abnormalities including QTc prolongation occurring in 13% patients. The main explanation for prolonged HCM myocardial hypertrophy and related structural damage. However, other mechanisms, long QT syndrome (LQTS) genes mutations, may be involved. In present study we explored hypothesis a...
Germline pathogenic variants (PVs) in the Ataxia Telangiectasia mutated (ATM) gene (MIM* 607585) increase risk for breast, pancreatic, gastric, and prostatic cancer and, to a reduced extent, ovarian colon melanoma, with moderate penetrance variable expressivity. We describe family presenting early-onset gastric harboring heterozygous ATM variant. The proband had (age 45) reported sister deceased due diffuse 30) another who developed 52) serous cancer. Next generation sequencing...
The 5–10% of breast/ovarian cancers (BC and OC) are inherited, germline pathogenic (P) variants in DNA damage repair (DDR) genes BRCA1 BRCA2 explain only 10–20% these cases. Currently, new DDR have been related to BC/OC pancreatic (PC) cancers, but the prevalence P remains be explored. purpose this study was investigate spectrum pathway other than BRCA1/2 correlate genotype with clinical phenotype. A cohort 113 non-BRCA patients analyzed by next-generation sequencing using a multigene panel...
Cutaneous and breast implant-associated anaplastic large-cell lymphomas (cALCLs BI-ALCLs) are two localized forms of peripheral T-cell (PTCLs) that recognized as distinct entities within the family ALCL. JAK-STAT signaling is a common feature all ALCL subtypes, whereas DUSP22/IRF4, TP63 TYK gene rearrangements have been reported in proportion ALK-negative sALCLs cALCLs. Both cALCLs BI-ALCLs differ their expression profiles compared to PTCLs; however, direct comparison genomic alterations...
Juvenile polyposis syndrome (JPS) is an autosomal dominant disorder characterized by hyperplastic polyps in the upper and lower gastrointestinal (GI) tract with a high risk of developing GI cancers. We have described three-generation Italian family all spectrum SMAD4 phenotype. A multigene panel test was performed on genomic DNA proband next-generation sequencing, including genes related to hereditary tumor syndromes. Molecular analysis revealed presence c.1140-2A>G substitution gene,...
QTc prolongation is reported in patients with hypertrophic cardiomyopathy (HCM). However, the causes of interval increase remain unclear. The main contribution to HCM attributed myocardial hypertrophy and related structural damage. In a 24-year-old male proband, affected by long QTc, we identified Next Generation Sequencing pathogenic variant gene TNNI3 co-inherited damaging KCNQ1 gene. This evidence suggests possibility that its dispersion could be associated not only severity left...
Hypertrophic cardiomyopathy (HCM) is a genetic cardiac muscle disease characterized by clinical and heterogeneity. Genetic testing can reveal the presence of disease-causing variants in genes encoding sarcomere proteins. However, it yields inconclusive or negative results 40-60% HCM cases, owing to, among other causes, technical limitations such as inability to detect pathogenic intronic variants. Therefore, we aimed increase diagnostic yield molecular analysis for improving
Background: It is a well-known fact that the information obtained from survey can be used in healthcare organizational analysis; however, it very difficult to compare different results found literature each other, even through use of metanalysis, as methodology often not consistent. Methods: Data analyzing and managerial responses adopted pathology-specific clinical pathways (CPs) during first two waves COVID-19 pandemic were for constructing decisional matrix, tool called SPRIS system,...
Background: Neoadjuvant chemo-radiotherapy (nCRT) represents the standard of care for locally advanced rectal cancer (LARC); however, there exists no biomarker that can predict cancer’s response to treatment as less than 20% patients experience pathological complete (pCR). Ionizing radiations induce double strand breaks (DSBs) and trigger a DNA damage (DDR) involving ATM, ATR, MRN complex (MRE11, Rad50, NBS1). In this study, we performed an extensive mutational analysis genes involved in DDR...
ACM is a rare hereditary heart disease characterized by progressive fibro-fatty replacement of the myocardium that can affect either right or left ventricle both. It mainly caused variants in desmosome genes with autosomal dominant transmission and incomplete penetrance. The shows wide spectrum clinical manifestations, including ventricular arrhythmias, HF myocarditis. latter considered 'hot phase' natural history must therefore be distinguished from isolated AM, which frequently due to...