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An Integrated Genomic Approach to Assess Genetic Risk and Drug Sensitivity
Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Summary
National multicenter prospective study, involving the enrollment of approximately 1,500 patients with ovarian cancer, 1,500 patients with breast cancer, and 1,000 patients with colorectal cancer.
Official title: Feasibility Study for Combined Genomic Diagnosis of Genetic Risk and Drug Sensitivity in Breast, Ovarian, and Colorectal Cancers
Key Details
Gender
All
Age Range
18 Years - Any
Study Type
INTERVENTIONAL
Enrollment
4000
Start Date
2019-11-21
Completion Date
2032-12-31
Last Updated
2026-04-29
Healthy Volunteers
No
Interventions
Genomic profile
This national multicenter prospective study will use the ACC Gersom NGS gene panel (172 cancer risk genes, 295 tumor-altered genes, 196 pharmacogenomic variants) to perform parallel somatic (tumor) and germline (blood) testing in enrolled patients. After informed consent and pre-test genetic counseling, patients will undergo molecular analysis of tumor tissue (fresh or FFPE, ≥30% tumor content) and peripheral blood. All pathogenic variants, VUS, and actionable mutations identified will be validated using standard methods and, when necessary, discussed by the Molecular Tumor Board. Results will be returned through post-test genetic counseling, and treatment or surveillance decisions will be based on validated findings. Blood samples (EDTA and Streck tubes) and tissue samples will be locally processed and biobanked, with centralized analyses performed in Candiolo for selected assays (RNA sequencing, microarray genotyping, CUTseq, and additional genomic analyses). The Gersom panel requir
Locations (1)
Fondazione Policlinico Universitario Agostino Gemelli, IRCCS
Roma, Roma, Italy