Germline Genetic Testing of the TP53 Gene: Identification, Characterization, and Management of Patients and Families at High Risk of Cancer
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 1,940
- 试验地点
- 1
- 主要终点
- Overall detection rate of Pathological Variants (PVs) in the TP53 gene.
研究概览
简要总结
This is a retrospective, observational, single-center study designed as a cohort analysis. The study population will include consecutive patients referred for genetic counseling and TP53 germline genetic testing between 2004 and 2025 at the Division of Cancer Prevention and Genetics of the IEO. The primary endpoint is to determine the overall detection rate of Pathological Variants (PVs) in the TP53 gene among individuals referred to the institute and the differences between the groups.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 18 Years 至 90 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Have undergone at least one genetic counseling session at the Division of Cancer Prevention and Genetics of the IEO;
- •Have undergone germline TP53 genetic testing, regardless of the referral criteria for counseling and/or testing or the approach used;
- •Have provided written informed consent for participation in scientific research.
排除标准
- •Absence of signed informed consent for participation in scientific research.
研究组 & 干预措施
Group 1
Individuals fulfilling the 2015 Chompret criteria.
Group 2
Individuals fulfilling the Li-Fraumeni-Like (LFL) criteria according to Birch or Eeles.
Group 3
Individuals undergoing Multi-Gene Transcriptional Profiling in the absence of Li-Fraumeni Sindrome/Li-Fraumeni-Like criteria.
结局指标
主要结局
Overall detection rate of Pathological Variants (PVs) in the TP53 gene.
时间窗: Baseline
To determine the overall detection rate of PVs in the TP53 gene among individuals referred to the Division of Cancer Prevention and Genetics at the IEO for TP53 genetic testing. Detection rate calculated as the number of patients with mutation of the TP53 gene divided by the total numer of patients tested.
次要结局
- Detection rate of pathological variants in the TP53 gene across cohort(Baseline)
- Detection rate of Variant of Uncertain Significance in the TP53 gene.(Baseline)
- Detection rate of pathological variants and variants of Uncertain Significance in other cancer susceptibility genes.(Baseline)
- Disease Free Survival(5 years)
- Overall Survival (OS)(5 years)