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.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Enrollment
4,000
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
Fondazione Policlinico Universitario Agostino Gemelli, IRCCS
Roma, Roma, Italy
To validate the germline and somatic mutations with the Gersom panel.
The primary objective of the study will be to validate, using standard methodology, the germline and somatic mutations identified with the Gersom panel.
Time frame: Baseline
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