Cascade Testing in Families With Newly Diagnosed Hereditary Breast and Ovarian Cancer Syndrome
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 118
- 试验地点
- 1
- 主要终点
- Establishing the CASCADE Cohort
研究概览
简要总结
Identification of BRCA mutations in ovarian cancer patients may help guide cancer therapies, prognosis, post-operative screening, and other preventative treatments beyond the initial diagnosis. Likewise, genetic testing of ovarian cancer patients for these germline mutations provides invaluable information for families regarding cancer risk, genetic testing, and subsequently indication for risk-reducing surgery. Cascade testing provides a unique opportunity to identify carriers of a deleterious BRCA mutation which can allow for surgical and chemoprevention of prevention of ovarian cancer. There is currently no literature on the rates of referral for the family members.
详细描述
The objective of this study is to perform a pilot study, offering referral to a genetic counseling and genetic testing for family members of a probands known to have a mutation in BRCA1 or BRCA2. In addition to BRCA1 and BRCA2, the NCCN suggests consideration of risk-reducing surgery for mutations in BRIP1, MSH2, MLH1, MSH6, PMS2, EPCAM, RAD51C, RAD51D, investigators will include these subjects as well in the study.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 99 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •All subjects must have a diagnosis of epithelial ovarian cancer, Fallopian tube caner or primary peritoneal cancer with a known pathogenic genetic mutation.
- •All subjects must agree to participate.
- •All subjects must have first or second degree relatives who have not been diagnosed with the same genetic mutation.
- •A previous diagnosis of cancer in the subject's first or second degree relative is allowed.
排除标准
- •Subjects whose first and/or second degree relatives have already been tested with the subject's known mutations, and no other viable family members are available for testing.
结局指标
主要结局
Establishing the CASCADE Cohort
时间窗: 1 Year
Number of relatives with successful cascade testing
次要结局
未报告次要终点