Development and Validation of an Ovarian Cancer Risk Prediction Model for Family Members of Ovarian Cancer Probands With BRCA1/2 Germline Mutations
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 10,000
- 试验地点
- 1
- 主要终点
- The age at which pathologically diagnosed with ovarian malignant tumors (ICD-10 C56)
研究概览
简要总结
Ovarian cancer is the gynecological malignancy with the highest fatality rate, seriously threatening the life and health of women. One of the main reasons for its high fatality rate is that approximately 70% of patients are diagnosed at an advanced stage. Fortunately, about 1/5 of ovarian cancers are associated with genetic factors, providing us with an opportunity to screen high-risk populations and thereby prevent and diagnose the disease at an early stage and reduce the disease burden.
Currently, research related to hereditary ovarian cancer in China is still very scarce, and clinical practice relies on data from foreign studies. However, hereditary tumors have distinct regional and ethnic characteristics, making it urgent to conduct clinical research based on the Chinese population to guide clinical practice in China. Current research suggests that approximately 50% - 60% of hereditary ovarian cancers are closely related to the BRCA1/2 genes. Therefore, accurately assessing the risk of ovarian cancer in BRCA1/2 germline mutation carriers is of great significance for the prevention and treatment of hereditary ovarian cancer.
详细描述
This study will adopt a multicenter ambispective cohort study design to comprehensively collect and analyze the clinical characteristics, family characteristics, gene mutation characteristics, and lifestyle data of BRCA1/2 germline mutation carriers. For family members who have not yet developed ovarian cancer at the time of enrollment, telephone follow-ups will be conducted once a year to longitudinally monitor ovarian cancer incidence and to collect diagnostic evidence.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- Female
- 接受健康志愿者
- 否
入选标准
- •Pathologically diagnosed with ovarian malignant tumor.
- •Identified as carriers of BRCA1/2 germline pathogenic or likely pathogenic mutations through genetic testing, in accordance with the "Standards and Guidelines for the Interpretation of Sequence Variants" (2015 Edition) of the American College of Medical Genetics and Genomics (ACMG).
- •Age of 18 years or older. ④ Voluntary participation in this research and signing of the informed consent form.
排除标准
- •① Patients who refuse to provide necessary information.
结局指标
主要结局
The age at which pathologically diagnosed with ovarian malignant tumors (ICD-10 C56)
时间窗: From enrollment to the end of follow-up at 5 years
The age at which pathologically diagnosed with ovarian malignant tumors (ICD-10 C56)
次要结局
- Acceptance rate of risk-reducing salpingo-oophorectomy (RRSO) among BRCA1/2 mutation carriers(From enrollment to the end of follow-up at 5 years)