An integrated analytical pipeline to overcome the missing heritability issue in familial non-medullary thyroid cancer.
Abstract
Approximately 5-10% of differentiated non-medullary thyroid carcinoma is classified as familial (FNMTC). To date, no high-risk predisposing genetic alterations have been defined. Aim of the project is to set up a robust analytical pipeline meant to identify a list of FNMTC-predisposing variants. Patients’ DNA will be analyzed by whole genome SNP-genotyping and WGS to identify familial segregation and candidate germline variants. Besides, the effects of the aforementioned variants will be evaluated by in vitro investigations. Indeed, identification of novel candidate variants could provide new molecular markers for diagnosis and support both genetic counseling and clinical management.
Partenariato
- Università degli studi di Roma “La Sapienza”
- Università degli studi di Udine
- Università degli studi di Padova
- Università degli studi del Sannio di Benevento
Importo del progetto
Importo totale del progetto Euro 289.000,00
Importo del progetto Uniud Euro 65.000,00
Finanziamento Uniud Euro 0
Durata
- Dal 30/11/2023
- Al 29/11/2025
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