Evaluation of Polygenic Risk Score for Epithelial OVarian cancEr Risk Prediction and Clinical Outcomes in an Italian Population: the PROVE Study
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 1,300
- 试验地点
- 1
- 主要终点
- Odds of developing EOC by different PRS percentiles
研究概览
简要总结
The goal of this observational study is to evaluate whether polygenic risk score (PRS) assessment can help predict the onset of epithelial ovarian cancer in women aged over 18, comparing those with a histologically confirmed diagnosis of epithelial ovarian or fallopian tube cancer (cases) to women with no personal history of ovarian cancer (controls). The main questions it aims to answer are:
- Is there an association between PRS and the presence of epithelial ovarian cancer?
- Can PRS improve the prediction of ovarian cancer risk when adjusted for other clinical factors?
Researchers will compare PRS values between cases and controls to see if higher PRS percentiles are associated with an increased risk of ovarian cancer.
Participants will:
- Complete a questionnaire on socio-economic status, lifestyle, and dietary habits.
- Undergo blood sampling, for the analysis of BRCA1-2, PALB2, RAD51C, RAD51D pathogenic variants.
- Undergo PRS analysis.
详细描述
This study aims to investigate epithelial ovarian cancer (EOC) through a combined case-control and prospective cohort design, focusing on genetic, clinical, and lifestyle risk factors.
The recruitment phase will last 12 months, conducted at Fondazione Policlinico Universitario A. Gemelli IRCCS in Rome. Cases will include women with histologically confirmed EOC, while controls will be women without a history of ovarian cancer, consecutively recruited from the Rheumatology Unit. Eligible participants must be ≥18 years old and provide informed consent. Women with concurrent malignancies other than OC will be excluded.
Study Procedures Baseline Visit
After signing informed consent, participants will undergo the following assessments:
- Structured Questionnaire: Collection of socio-demographic data, medical and family history, obstetric history, lifestyle factors, comorbidities, and potential ovarian cancer risk factors.
- Blood Sampling: Blood will be collected for molecular analysis, including BRCA1/2 mutational status and Polygenic Risk Score (PRS) evaluation. PRS results will be available to participants upon request, while pathogenic BRCA results will be referred to a geneticist and managed according to clinical practice.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- Female
- 接受健康志愿者
- 是
入选标准
- •For cases: women with a first-time diagnosis of histologically confirmed epithelial ovarian or fallopian tube cancer.
- •For Controls women with no concomitant or past OC diagnosis.
排除标准
- •For both cases and controls: the presence of concurrent malignancies other from OC.
研究组 & 干预措施
CASES: women with ovarian cancer
Patients with histologically proven epithelial ovarian and fallopian tube cancer (referred to as cases), consecutively enrolled in the Ovarian Carcinoma Complex Operative Unit of Policlinico Gemelli.
干预措施: Polygenic Risk Score (Genetic)
CASES: women with ovarian cancer
Patients with histologically proven epithelial ovarian and fallopian tube cancer (referred to as cases), consecutively enrolled in the Ovarian Carcinoma Complex Operative Unit of Policlinico Gemelli.
干预措施: Biopsy on normal contralateral ovary (Diagnostic Test)
CASES: women with ovarian cancer
Patients with histologically proven epithelial ovarian and fallopian tube cancer (referred to as cases), consecutively enrolled in the Ovarian Carcinoma Complex Operative Unit of Policlinico Gemelli.
干预措施: Pharmacogenetic profiles (Genetic)
CASES: women with ovarian cancer
Patients with histologically proven epithelial ovarian and fallopian tube cancer (referred to as cases), consecutively enrolled in the Ovarian Carcinoma Complex Operative Unit of Policlinico Gemelli.
干预措施: Full-Field Optical Coherence Tomography (FF-OCT), combined with Dynamic Cell Imaging (Van Gogh System) on detecting ovarian cancer lesions from tissue samples (Diagnostic Test)
CONTROLS: Healthy women
Women with no previous or concomitant personal history of OC (referred as controls), consecutively enrolled in the Rheumatology Complex Operative Unit of Policlinico Gemelli.
干预措施: Polygenic Risk Score (Genetic)
结局指标
主要结局
Odds of developing EOC by different PRS percentiles
时间窗: At enrollment
Correlation between PRS percentiles and EOC risk
次要结局
- Correlation of PRS percentiles and covariates(At enrollment)
- Diagnostic accuracy of Full-Field Optical Coherence Tomography (FF-OCT), combined with Dynamic Cell Imaging (Van Gogh System)(At enrollment)
- Frequency of functional genotypes in drug-metabolizing enzymes and transporters(At enrollment)
研究者
Stefania Boccia
Full Professor of Hygiene and Preventive Medicine
Catholic University of the Sacred Heart