Li-Fraumeni & TP53: Understanding and Progress (LiFT UP)
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 1,500
- 试验地点
- 3
- 主要终点
- Repository of specimens and data
研究概览
简要总结
The purpose of this research study is to learn more about variants in the TP53 gene both associated with Li-Fraumeni Syndrome (LFS), a hereditary cancer risk condition, and TP53 variants found in the blood for other reasons (e.g. ACE/CHIP and mosaicism).
详细描述
This research study looks to enroll as many people with LFS or TP53 gene variants as possible in order to:
- Better estimate cancer risks in individuals with TP53 variants or LFS, which is a rare condition.
- Learn the range of cancer risks linked to TP53 variants to help individuals and families to improve our ability to counsel patients and families about cancer risks more accurately.
- Improve opportunities for cancer prevention, early detection, and treatment.
- Learn more about the meaning of TP53 variants in the blood that are not inherited (e.g. ACE/CHIP and mosaicism).
Study procedures will include:
- Collecting information from the participant's medical record and short questionnaires.
- Collecting blood, saliva, eyebrow hair and tumor tissue samples (optional).
- Sharing study information with family members (optional).
It is expected that about 1500 people will take part in this research study. Participants will be in this study until it closes or the participant withdraws consent.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Other
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Individuals with a TP53 pathogenic or likely pathogenic variant identified in blood or saliva,
- •Individuals with variants of uncertain significance in TP53 may be eligible at the PI's discretion,
- •Blood relatives of individuals with a TP53 variant, who may be presumed obligate carriers or healthy controls,
- •Individuals who meet Classic or Chompret LFS criteria whether or not they have a TP53 gene variant,
- •Individuals may enroll their deceased relatives in the study.
- •Individuals with a known TP53 variant that is not LFS, but rather ACE, CHIP, or mosaicism.
- •Individuals participating in other LFS studies can still enroll in LiFT UP. Investigators may be collaborators.
排除标准
- •Individuals who decline to sign consent
- •Individuals who are unable to give consent or assent and are without a designated healthcare proxy
结局指标
主要结局
Repository of specimens and data
时间窗: 5 years or Study closure
Examine accuracy of family history and the extent to which families meet various published Li-Fraumeni family criteria or assess for de-novo mutations using descriptive statistics. Exact binomial confidence limits for percents will be calculated at 95% coverage. Tests of difference between \>2 groups for binary variables will use the Fisher exact test.
次要结局
- Estimation of Cancer Risks in TP53 mutation carriers(5 years or Study closure)
- Modified segregation analysis(5 years or Study closure)
- Estimation of risk for the more commonly occurring cancers associated with inherited TP53 mutations(5 years or Study closure)
研究者
Judy E. Garber, MD
Principal Investigator
Dana-Farber Cancer Institute