BRCAsearch: A Population Based Prospective Study on Screening for BRCA1 and BRCA2 Germline Mutations in Patients With Newly Diagnosed Breast Cancer Treated in Southern Sweden.
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 542
- 试验地点
- 2
- 主要终点
- Prevalence of BRCA1/2 mutations in an unselected breast cancer cohort in southern Sweden
研究概览
简要总结
The overall purpose of the study is to evaluate a method for offering mutation analysis of BRCA1 and BRCA2 to all patients with newly diagnosed breast cancer, regardless of age at diagnosis and family history. Information about the study as well as pre-test genetic counseling will primarily be given in a written way. In addition to that, if a study participant wishes to, she can also receive pre-test telephone genetic counseling.
详细描述
Study population:
All patients with newly diagnosed breast cancer in southern Sweden are offered inclusion in the SCAN-B study at the time of diagnosis pre-surgery. If they consent to that, a part of the tumor is sent to a lab in Lund, Sweden, for research purposes (RNA sequencing etc.). Patients that are included in the SCAN-B study are eligible for inclusion in BRCAsearch, see inclusion and exclusion criteria.
Study procedure (summary):
- An envelope with written information is given to the patient at the visit to the surgeon the week after surgery. This envelope contains a written genetic counseling, information about the study, an informed consent form, psychosocial questionnaires and our contact information (telephone, e-mail). The patient can contact a genetic counselor for pre-test telephone genetic counseling if she wishes to.
- BRCA1 and BRCA2 are analyzed by full sequencing.
- Non-carriers are informed about the test result with a letter. Mutation carriers and VUS (variants of uncertain significance) are telephoned and given a time for an appointment at the Department of Clinical Genetics within a week.
- Psychosocial self-reported questionnaires (HAD scale, EORTC QLQ-C30, EORTC QLQ-BR23) are delivered at 3 times: At invitation to the study, one month after information about test result, and one year after information about test result.
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
- •The patient is included in the SCAN-B study.
- •The patient is recently diagnosed with an invasive breast cancer or a ductal cancer in situ.
- •The patient has signed an informed consent form.
排除标准
- •The patient is unable to understand the written information in Swedish.
- •The patient's psychological state, due to chronic och temporary reasons, is such that one could suspect that information about the study or genetic testing could be substantially detrimental to the psychological well-beeing.
结局指标
主要结局
Prevalence of BRCA1/2 mutations in an unselected breast cancer cohort in southern Sweden
时间窗: 3 years
Uptake of genetic testing
时间窗: 3 years
Proportion of the mutation carriers that do not fulfil current criteria for genetic testing
时间窗: 3 years
次要结局
- Psychosocial comparisons between mutation carriers and non-carriers(4 years)
- How many of the patients that contact us for questions(3 years)
- How uptake of genetic testing varies with the age at diagnosis(3 years)
- The patients' attitudes towards the method used for identifying mutation carriers(3 years)