Responses to Genetic Risk Modifier Testing Among Women With BRCA1/2 Mutations
概览
- 阶段
- 不适用
- 干预措施
- Salvia sample
- 疾病 / 适应症
- Genetic Testing
- 发起方
- Memorial Sloan Kettering Cancer Center
- 入组人数
- 400
- 试验地点
- 7
- 主要终点
- number of patients that opt for preventive mastectomy or to pursue surveillance
- 状态
- 招募中
- 最后更新
- 2个月前
概览
简要总结
The purpose of this study is to describe how women with BRCA1/2 mutations react to genetic risk modifier testing, and to examine how they make decisions about their healthcare.
研究者
入排标准
入选标准
- •Female patient, age 25 years or older (given that women under this age are not generally recommended to receive BRCA1/2 genetic testing)
- •Completed full sequence or targeted genetic testing with a clinically confirmed BRCA1 or BRCA2 deleterious mutation identified
- •No personal history of breast cancer
- •English-fluent; the surveys were designed and validated in English and are not currently available in other languages. Translation of questionnaires into other languages would require reestablishing the reliability and validity of these measures. Therefore, participants must be able to communicate in English to complete the surveys.
排除标准
- •Previous receipt of any prophylactic mastectomy.
- •Major psychiatric illness or cognitive impairment that in the judgment of the study investigators or study staff would preclude study participation.
- •Any patients who are unable to comply with the study procedures as determined by the study investigators or study staff.
研究组 & 干预措施
patients receiving a positive BRCA1/2 mutation result
All interested participants will provide a saliva sample for genetic risk modifier testing, and will complete Assessment #1 questionnaires. Participants will be contacted 1 week later (+/- 1 week) to complete Assessment #2 questionnaires. Participants will be contacted 6 months (+/- 3 weeks) following the receipt of their genetic risk modifier results to complete Assessment #3 questionnaires. Participants will be encouraged to complete Assessments #2 and #3 via email using the secure, approved REDCap system
干预措施: Salvia sample
patients receiving a positive BRCA1/2 mutation result
All interested participants will provide a saliva sample for genetic risk modifier testing, and will complete Assessment #1 questionnaires. Participants will be contacted 1 week later (+/- 1 week) to complete Assessment #2 questionnaires. Participants will be contacted 6 months (+/- 3 weeks) following the receipt of their genetic risk modifier results to complete Assessment #3 questionnaires. Participants will be encouraged to complete Assessments #2 and #3 via email using the secure, approved REDCap system
干预措施: Questionnaires
结局指标
主要结局
number of patients that opt for preventive mastectomy or to pursue surveillance
时间窗: 3 years
Hierarchical level modeling (HLM) will be implemented to assess the effect of genetic risk modifier testing on Decisional Conflict Scale score (DCS), allowing for baseline effects via a random intercept.