A5005606001- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- Genomics and Rare Diseases
- Colorectal Cancer Treatments and Studies
- Urological Disorders and Treatments
- Galectins and Cancer Biology
- Neurogenetic and Muscular Disorders Research
- Congenital heart defects research
- Wnt/β-catenin signaling in development and cancer
- RNA modifications and cancer
- Birth, Development, and Health
- Protein Tyrosine Phosphatases
- Neurofibromatosis and Schwannoma Cases
- Genetic and rare skin diseases.
- Colorectal Cancer Screening and Detection
- Genomic variations and chromosomal abnormalities
- Biochemical and Molecular Research
- Neurological diseases and metabolism
- Hereditary Neurological Disorders
- RNA Research and Splicing
- Hedgehog Signaling Pathway Studies
- Vascular Malformations and Hemangiomas
- Meningioma and schwannoma management
- Pregnancy and preeclampsia studies
- Sarcoma Diagnosis and Treatment
Presidio Ospedaliero
2024-2025
University of Bari Aldo Moro
2012-2020
Azienda Universitaria Ospedaliera Consorziale - Policlinico Bari
2018
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...
PurposeJuvenile polyposis syndrome (JPS) is a rare, autosomal-dominantly inherited cancer predisposition caused in approximately 50% of cases by pathogenic germline variants SMAD4 and BMPR1A. We aimed to gather detailed clinical molecular genetic information on JPS disease expression provide basis for management guidelines establish open access variant databases.MethodsWe performed retrospective, questionnaire-based European multicenter survey established cohort SMAD4/BMPR1A carriers from...
Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic diseases. It caused by mutations in NF1 gene encoding for large protein, neurofibromin. Genetic testing cumbersome because 50% cases are sporadic, and there no mutation hot spots. In addition, recognizable clinical features—café-au-lait (CALs) spots axillary and/or inguinal freckling—appear early childhood but rather non-specific. Thus, identification causative variants extremely important diagnosis,...
Molecular testing for KRAS and BRAF mutations in tumor tissue is a fundamental tool to identify patients with metastatic colorectal cancer (CRC) who are eligible anti-EGFR monoclonal antibody therapy. We here report molecular analysis by high-resolution melting direct sequencing of KRAS, PIK3CA hot spot 209 Italian CRC patients. One hundred ten (51%) were identified potentially nonresponders therapy: 90/209 (43%) harboring mutations, 13/117 (11.1%) the V600E mutation, 7/209 (3.3%) exon 20....
Hamartomatous polyposis syndromes (HPS) are inherited conditions associated with high cancer risk. They include the Peutz-Jeghers and PTEN hamartoma tumor syndromes, which caused by mutations in LKB1 genes, respectively. Estimation of risk is crucial order to optimize surveillance, but no prognostic markers currently available for these conditions. Our study relies on a 'signal transduction' hypothesis based crosstalk between LKB1/AMPK PI3K/PTEN/Akt signaling at level suppressor protein...
Genetic variants in GARS1 gene, encoding for the glycyl tRNA synthetase 1, cause Charcot-Marie-Tooth disease, type 2D (CMT2D). Here we describe a 14-year-old boy affected by neuropathy with prominent weakness upper extremities carrying two cis missense gene: c.803C > T, p.Thr268Ile and c.842T A, p.Met281Lys. The mutated allele segregates member of family, thus supporting its pathogenic role. Although combined role these cannot be excluded, suggest strong association variant A (p.Met281Lys),...
Noonan syndrome (NS) is an autosomal dominant disorder, characterized by variable expressivity of clinical features such as: postnatal growth reduction, congenital heart disease, characteristic facial dysmorphisms and development delay. In ~75% all NS cases, germline mutations involving RAS-MAPK signaling pathway genes (PTPN11, SOS1, RAF1, KRAS, NRAS, BRAF, SHOC2, MEK1, CBL) are causative. We reported a case 13-year-old girl [born at 36w CS (BW 3250 g (~95?), BL 48 cm (~75?)] referred for...