GENetic Risk Estimation of Breast Cancer Prior to Decisions on Preventive Therapy Uptake, Risk Reducing Surgery or Intensive Imaging Surveillance: A Study to Determine if a Polygenic Risk Score Influences the Decision Making Options Amongst High Risk Women (GENRE 2)
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 发起方
- Mayo Clinic
- 入组人数
- 737
- 试验地点
- 5
- 主要终点
- Patient self-reported intention to take a breast cancer preventing medication
研究概览
简要总结
The primary aim of this study is to determine if the addition of an individual polygenic risk score (PRS) in addition to the Breast Cancer Risk Assessment Tool (BCRAT) or Tyrer-Cuzick (IBIS) score will aid women at risk of breast cancer in making a decision to take (or not take) medications to prevent breast cancer.
详细描述
This is a minimal risk prospective multisite study with a single arm incorporating the PRS into a standard breast cancer risk reduction consultation, followed by annual surveys over 10 years to determine if and how the availability of the PRS influenced patient decisions regarding preventive medicine and medication compliance. Because women know beforehand that the PRS is pending, study participants will be advised that a final decision to take preventive medicine must be deferred until after the PRS results are made available. Nevertheless, a survey of understanding of risk and benefit and assessment of willingness to take preventive medicine will be done prior to receiving the PRS results and then another survey will be completed after receiving the PRS score.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 35 Years 至 75 Years（Adult, Older Adult）
- 性别
- Female
- 接受健康志愿者
- 是
入选标准
- •Women >= 35 years old and =< 75 years old with at least one of the following:
- •A National Cancer Institute (NCI)-BCRAT 5 year risk of >= 3% which corresponds to the level in which there is moderate evidence of treatment benefit outweighing risk according to the United States (US) Preventative Services Task Force
- •IBIS (Tyrer-Cuzik) score for the 10 year risk of breast cancer of >= 5%
- •History atypical ductal hyperplasia or atypical lobular hyperplasia with a BCRAT >= 3% or IBIS >= 5%
- •History of lobular carcinoma in situ with a BCRAT >= 3% or IBIS >= 5% OR
- •Women >= 18 years old or =< 75 years old with a BRCA 1 or 2 mutation, CHEK 2, PALB 2, ATM, or other hereditary breast mutation carrier per investigator
- •Willing and able to provide an email address to receive study surveys
- •Able to participate in all aspects of the study
- •Understand and sign the study informed consent
排除标准
- •Women whose BCRAT falls below the threshold (<3 % 5 year risk) of moderate benefit according to the US Preventative Task Force AND Women whose IBIS score is <8% for the 10 year risk
- •Women with known contra-indications to Tamoxifen, raloxifene ,exemestane, or anastrazole
- •Current or prior use of Tamoxifen, raloxifene, exemestane or anastrazole
- •Unable to give informed consent
- •Prior history of invasive breast cancer, ductal carcinoma in situ or other breast cancers
- •At high risk due to prior radiation therapy to the chest
- •Women who are pregnant or breastfeeding
- •Prior risk reducing or prophylactic mastectomy
- •Unwilling or unable to provide an email address for study surveys to be sent to
- •Subject has a known history or any condition or factor judged by the investigator to preclude participation in the study or which might hinder adherence
研究组 & 干预措施
PRS
Providing polygenic risk score (PRS)
干预措施: Polygenic Risk Score (Genetic)
结局指标
主要结局
Patient self-reported intention to take a breast cancer preventing medication
时间窗: up to 6 months after initial consultation
次要结局
- Proportion of patients who are taking preventative medications each year for 10 years(Each year for up to 10 years)
- Endocrine related quality of life scores each year for 10 years(Each year for up to 10 years)
- Proportion of patient who are pursuing supplemental screening for 10 years(Each year for up to 10 years)