Implementation of a Model for Personalised Risk-Based Breast Cancer Prevention and Screening
试验速览
- 阶段
- 不适用
- 入组人数
- 28,389
- 试验地点
- 4
- 主要终点
- Proportion of women in the population with genetically higher risk for breast cancer
研究概览
简要总结
This is a cohort study, applied research and T3 translational genomics to estimate the impact of genetic risk for breast cancer detection in the screening program. The study group base consists of 28 389 female participants, currently in the age-group 22-79, in the Biobank of Estonian Genome Centre. The study is aimed to demonstrate the usability of personalised approach for adjusting and stratifying screening recommendations, based on predicted genetic risk estimates for breast cancer in the situation, where the genome data could be available from all women who have given informed consent for that. The project includes both the detection of moderate and high hereditary breast cancer risk carriers as well as high risk polygenic risk-score (consisting several single nucleotide polymorphisms) carriers among healthy individuals for application of personalised prevention and screening strategies.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Screening
- 盲法
- None
入排标准
- 年龄范围
- 25 Years 至 —（Adult, Older Adult）
- 性别
- Female
- 接受健康志愿者
- 否
入选标准
- •Available NGS (WGS or WES) data for detection of breast cancer moderate to high genetic risk variants in BRCA1, BRCA2, TP53, STK11, PTEN, CDH1, ATM, PALB2, CHEK2, NBN, NF1 genes;
- •Available genetic (WGS, genotyping) data for PRS calculation, participants in age 40-74 will be further selected;
- •Available genotyping data;
- •No available NGS data for BRCA1, BRCA2, TP53, STK11, PTEN, CDH1, ATM, PALB2, CHEK2, NBN, NF1 genes;
- •Participants in the age group 40-74 with available genetic data for PRS calculation;
- •Cohort StMG:
- •Female participants in Estonian Biobank in the age group 50-69 participating at least once in the current Estonian population-based screening program during 2016-2020.
排除标准
- •Cohort 1: breast cancer in the medical history; Cohort 2: breast cancer in the medical history. Cohort StMG: none.
研究组 & 干预措施
Cohort 1
High monogenic breast cancer risk
干预措施: Mammography outside official screening (Diagnostic Test)
Cohort 2
High polygenic breast cancer risk
干预措施: Mammography outside official screening (Diagnostic Test)
Cohort StMG
Standard mammography screening in age 50-69
结局指标
主要结局
Proportion of women in the population with genetically higher risk for breast cancer
时间窗: 3 years
次要结局
- Number of screen-detected breast cancers in different risk groups(3-years)
研究者
Peeter Padrik
Director of the Cancer Center
Tartu University Hospital