Feasibility Study for Combined Genomic Diagnosis of Genetic Risk and Drug Sensitivity in Breast, Ovarian, and Colorectal Cancers
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 4,000
- 试验地点
- 1
- 主要终点
- To validate the germline and somatic mutations with the Gersom panel.
研究概览
简要总结
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.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
- •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.
- •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.
排除标准
- •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.
研究组 & 干预措施
This national multicenter prospective study will use the ACC Gersom NGS gene panel (172 cancer risk
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
干预措施: Genomic profile (Genetic)
结局指标
主要结局
To validate the germline and somatic mutations with the Gersom panel.
时间窗: Baseline
The primary objective of the study will be to validate, using standard methodology, the germline and somatic mutations identified with the Gersom panel.
次要结局
未报告次要终点
研究者
NERO CAMILLA
MD, PhD
Fondazione Policlinico Universitario Agostino Gemelli IRCCS