BRCA1 and BRCA2 Mutation in Romanian Population: a Study of Genotype - Phenotype Correlation at Diagnosis With Prospective Disease Outcome and Survival
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 250
- 试验地点
- 1
- 主要终点
- BRCA1 and BRCA2 variants prevalence and penetrance at Romanian women with breast/ovarian cancer selected for likeliness to harbor germline mutations
研究概览
简要总结
Primary objective To determine BRCA1 and BRCA2 variants in 250 Romanian women with breast/ovarian cancer selected for likeliness to harbor germline mutations in these genes by specific criteria for high-risk status including age at disease onset.
Secondary objective Considering the fact that BRCA testing is not a routine procedure in Romania and mutation prevalence varies in different populations, we intend to look for the founder mutation in our population, running full BRCA genes sequencing to a representative population sample. This would allow a more targeted approach to real-life practice and would ensure personalized solutions for every patient in need.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 75 Years（Adult, Older Adult）
- 性别
- Female
- 接受健康志愿者
- 否
入选标准
- •Categories of patients to be recruited for complete sequencing of all BRCA1 and BRCA2 exons are subjects who have been diagnosed with breast or ovarion cancer and who are:
- •40 years of age or younger 2)Triple negative breast cancer diagnosed before 50 years of age 3)Male with breast cancer 4)Bilateral breast cancer, first tumor diagnosed before 50 years of age 5)2) + 50 years of age or younger with at least one (first degree) relative diagnosed with breast cancer at 50 years of age or younger or a first degree relative with ovarian cancer 6)of any age with 2 or more relatives with breast cancer 7)of any age with 2 or more relatives with ovarian cancer 8)of any age with a personal history of ovarian cancer, tuba or peritoneal carcinoma 9)Two patients in same branch of the family, Prostate ca < 60 yr and 1st degree relative with BC < 50 yr 10)Two or more 1st and 2nd degree relatives of a patient with breast cancer, at least one of them <50 yr 11)of any age with a family history of male breast cancer or are at increased risk of having a BRCA mutation based on BRCAPRO or Tyrer-Cuzick models
排除标准
- 未提供
结局指标
主要结局
BRCA1 and BRCA2 variants prevalence and penetrance at Romanian women with breast/ovarian cancer selected for likeliness to harbor germline mutations
时间窗: 12 months
次要结局
未报告次要终点
研究者
Alexandru Eniu
MD PhD
Prof. Dr. I. Chiricuta Institute of Oncology