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Solid Tumors in RASopathies
Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Summary
RASopathies are a group of syndromes, caused by variants of genes involved in the regulation of the Ras/MAP/ERK pathway. This intracellular transduction pathway profoundly affects embryogenic development, organogenesis, synaptic plasticity and neuronal growth. RASopathies are characterized by multi-organ involvement, growth delay, premature aging and haemato-oncological manifestations. Based on evidences provided by literature, cancer screening protocols are applied in some individuals affected by RASopathies, even though detailed information about prevalence and molecular pathogenesis of such tumors is still not clearly elucidate.
Official title: Incidence and Molecular Pathogenesis of Solid Tumors in RASopathies
Key Details
Gender
All
Age Range
Any - Any
Study Type
INTERVENTIONAL
Enrollment
100
Start Date
2021-10-12
Completion Date
2026-10-12
Last Updated
2024-04-04
Healthy Volunteers
Yes
Interventions
Molecular characterization of solid tumor in RASopathies
NGS analysis on tumor sample
Locations (1)
Department of Woman and Child Health and Public Health, Fondazione Policlinico A. Gemelli, IRCCS
Roma, Italy