An Integrated Genomic Approach to Assess Genetic Risk and Drug Sensitivity

NCT07555639 | Active Not Recruiting

• 1 other identifier: 2877
• Study Type: interventional
• Target: 4,000
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Breast Cancer; Ovarian Cancer; Genetic Risk Factors; Colon Cancer

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (1)

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

Genetic: Genomic profile

Interventions

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

This national multicenter prospective study will use the ACC Gersom NGS gene panel (172 cancer risk

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• 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.

Sponsors & Collaborators

• Fondazione Policlinico Universitario Agostino Gemelli IRCCS: lead

Study Sites (1)

Fondazione Policlinico Universitario Agostino Gemelli, IRCCS

Roma, Roma, 00136, Italy

Location

MeSH Terms

Conditions

Colonic Neoplasms; Breast Neoplasms; Ovarian Neoplasms

Interventions

Genetic Profile

Condition Hierarchy (Ancestors)

Colorectal Neoplasms; Intestinal Neoplasms; Gastrointestinal Neoplasms; Digestive System Neoplasms; Neoplasms by Site; Neoplasms; Digestive System Diseases; Gastrointestinal Diseases; Colonic Diseases; Intestinal Diseases; Breast Diseases; Skin Diseases; Skin and Connective Tissue Diseases; Endocrine Gland Neoplasms; Ovarian Diseases; Adnexal Diseases; Genital Diseases, Female; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Genital Neoplasms, Female; Urogenital Neoplasms; Genital Diseases; Endocrine System Diseases; Gonadal Disorders

Intervention Hierarchy (Ancestors)

Genetic Background; Genetic Phenomena

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: MD, PhD

Study Record Dates

• First Submitted: February 23, 2026
• First Posted: April 29, 2026
• Study Start: November 21, 2019
• Primary Completion: December 31, 2022
• Study Completion (Estimated): December 31, 2032
• Last Updated: April 29, 2026

Record last verified: 2026-04

Locations

IT (1)