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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| This national multicenter prospective study will use the ACC Gersom NGS gene panel (172 cancer risk | Experimental | 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 requi |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Genomic profile | Genetic | 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 |
| Measure | Description | Time Frame |
|---|---|---|
| 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. | Baseline |
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Inclusion Criteria:
Ovary
Newly diagnosed patients with epithelial ovarian, peritoneal, or fallopian tube tumors of any histology and stage, excluding borderline tumors, who are scheduled to undergo an invasive diagnostic or therapeutic procedure (surgery or biopsy). In the case of neoadjuvant therapy, availability of a pre-treatment biopsy sample is required.
Age > 18 years.
Written informed consent.
Patients with recurrent disease, either untreated or treated with no more than one prior line of therapy, who are scheduled to undergo an invasive diagnostic or therapeutic procedure (surgery or biopsy), provided that paraffin-embedded tissue from the untreated primary tumor is available, not older than 2 years, and that a new pre-enrollment biopsy is feasible.
Patients in remission (identified during follow-up) who have received no more than one prior line of therapy, provided that paraffin-embedded tissue from the untreated primary tumor is available and not older than 2 years.
Breast
Triple-negative breast cancer (ER and PgR <10% and HER2 negative: IHC 0, 1+, or 2+ with non-amplified ISH) or breast cancer diagnosed in patients younger than 40 years, who are scheduled to undergo an invasive diagnostic or therapeutic procedure (surgery or biopsy).
Eligible patients include:
Early-stage disease (neoadjuvant or adjuvant setting). In the case of neoadjuvant therapy, availability of a pre-treatment biopsy sample before chemotherapy is required.
Metastatic disease. In this setting, prior chemotherapy for early-stage breast cancer (neoadjuvant and/or adjuvant) is allowed, provided that paraffin-embedded tissue from the untreated primary tumor is available, not older than 2 years, and that a new pre-enrollment biopsy is feasible.
Patients in remission (identified during follow-up) who have received no more than one prior line of therapy (in any setting), provided that paraffin-embedded tissue from the untreated primary tumor is available and not older than 2 years.
Age > 18 years.
Written informed consent.
Colorectal
Newly diagnosed patients with colorectal cancer (including metastatic disease) who are scheduled to undergo an invasive diagnostic or therapeutic procedure (surgery or biopsy). In the case of neoadjuvant therapy, availability of a pre-treatment biopsy sample is required.
Age > 18 and < 50 years.
Written informed consent.
Patients with recurrent disease, either untreated or treated with no more than one prior line of therapy, who are scheduled to undergo an invasive diagnostic or therapeutic procedure (surgery or biopsy), provided that paraffin-embedded tissue from the untreated primary tumor is available, not older than 2 years, and that a new pre-enrollment biopsy is feasible.
Patients in remission (identified during follow-up) who have received no more than one prior line of therapy, provided that paraffin-embedded tissue from the untreated primary tumor is available and not older than 2 years.
Exclusion Criteria:
Inability or unwillingness to undergo oncogenetic counseling;
More than one prior line of chemotherapy (in any disease setting);
For patients enrolled in the absence of active disease and identified during follow-up, unavailability of untreated tumor tissue obtained within the previous 2 years;
For patients enrolled with active disease, tumor site not accessible for biopsy sampling.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Fondazione Policlinico Universitario Agostino Gemelli, IRCCS | Roma | Roma | 00136 | Italy |
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| ID | Term |
|---|---|
| D003110 | Colonic Neoplasms |
| D001943 | Breast Neoplasms |
| D010051 | Ovarian Neoplasms |
| ID | Term |
|---|---|
| D015179 | Colorectal Neoplasms |
| D007414 | Intestinal Neoplasms |
| D005770 | Gastrointestinal Neoplasms |
| D004067 | Digestive System Neoplasms |
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| ID | Term |
|---|---|
| D000076610 | Genetic Profile |
| ID | Term |
|---|---|
| D000068617 | Genetic Background |
| D055614 | Genetic Phenomena |
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|
| D009371 | Neoplasms by Site |
| D009369 | Neoplasms |
| D004066 | Digestive System Diseases |
| D005767 | Gastrointestinal Diseases |
| D003108 | Colonic Diseases |
| D007410 | Intestinal Diseases |
| D001941 | Breast Diseases |
| D012871 | Skin Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D004701 | Endocrine Gland Neoplasms |
| D010049 | Ovarian Diseases |
| D000291 | Adnexal Diseases |
| D005831 | Genital Diseases, Female |
| D052776 | Female Urogenital Diseases |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D005833 | Genital Neoplasms, Female |
| D014565 | Urogenital Neoplasms |
| D000091662 | Genital Diseases |
| D004700 | Endocrine System Diseases |
| D006058 | Gonadal Disorders |