CTNNA1 Familial Expansion (CAFÉ) Study
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 100
- 试验地点
- 1
- 主要终点
- Number of CTNNA1 genotypes associated with a cancer phenotype
研究概览
简要总结
The goal of the CAFÉ Study is to determine the cancer risks associated with germline CTNNA1 loss-of-function variants.
详细描述
The CAFÉ Study aims to determine the degree to which loss-of-function variants in the CTNNA1 gene are associated with hereditary cancers, including gastric cancer, breast cancer, as well as other cancers that may be associated with this gene. By obtaining personal and family history information from individuals who carry a CTNNA1 loss-of-function variant and their family members, this study will aim to better define CTNNA1 associated cancer risks and determine whether there is a genotype/phenotype correlation for CTNNA1 loss-of-function variants. This information will be important for the future cancer risk management of individuals who carry a CTNNA1 loss-of-function variant.
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
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •18 years of age and older
- •Participants must be carrier, or a first degree relative of a carrier, of a CTNNA1 loss-of-function variant defined as: a variant predicted to lead to protein truncation (nonsense and frameshift variants), a large deletion of one or more exons, or a consensus splice site variant predicted to disrupt splicing in CTNNA
- •CTNNA1 loss-of-function variants do not need to be classified as pathogenic or likely pathogenic to be included.
- •Participants must be able to understand and read English
- •Participants must be able to provide informed verbal or written consent
排除标准
- •Less than 18 years of age
- •Individuals who do not carry a CTNNA1 loss-of-function variant and are not a first degree relative of a CTNNA1 loss-of-function variant carrier.
- •Individuals who cannot speak and read English
- •Major psychiatric illness or cognitive impairment that in the judgement of the study investigators or study staff would preclude study participation
- •Unable to comply with the study procedures as determined by the study investigators or study staff
结局指标
主要结局
Number of CTNNA1 genotypes associated with a cancer phenotype
时间窗: Through study completion, which will average 1 year
Using collected family pedigrees from enrolled participants, we will correlate estimated cancer risk for CTNNA1 loss-of-function variant carriers with their CTNNA1 genotype, to determine if there is a significant genotype-phenotype correlation observed.
Rate of cancer amongst carriers of CTNNA1 loss-of-function variants
时间窗: Through study completion, which will average 1 year
After collecting personal and family cancer history from enrolled participants, family pedigrees will be utilized to calculate cancer risk estimates for for CTNNA1 loss-of-function variant carriers including gastric cancer risk, breast cancer risk, as well as risk of other cancers currently not known to be associated with CTNNA1 variants gene.
次要结局
未报告次要终点
研究者
Bryson Katona
Assistant Professor of Medicine, Director - Gastrointestinal Cancer Genetics Program
Abramson Cancer Center at Penn Medicine