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Solid Tumors in RASopathies

RECRUITINGN/ASponsored by Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Actively Recruiting
PhaseN/A
SponsorFondazione Policlinico Universitario Agostino Gemelli IRCCS
Started2021-10-12
Est. completion2023-10-30
Eligibility
Healthy vol.Accepted
View on ClinicalTrials.gov →

NCT05761314

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.

Eligibility

Healthy volunteers accepted
Inclusion Criteria:

* Clinical and molecularly confirmed diagnosis of a RASopathy

Exclusion Criteria:

* Clinical diagnosis of RASopathy without molecular characterization

Conditions6

CancerCardio-Facio-Cutaneous SyndromeCostello SyndromeHeart DiseaseNoonan SyndromeRASopathy

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