Multicenter Prospective Cohort of Tumors With Pole/D1 Mutation
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 100
- 试验地点
- 1
- 主要终点
- Molecular characterization of the identified POLE/POLD1 mutations
研究概览
简要总结
Primary objective of this study is to identify and describe the clinico-biological and molecular characteristics of tumors with somatic POLE (Polymerase ɛ)/POLD1 mutation identified by molecular biology platforms for all stages and primary sites combined
详细描述
The identification of patients to be included will be done directly from the tumor genotyping platforms.
Indeed, they will be the direct source of the identification of all POLE (Polymerase ɛ) mutations.
The platforms will inform the project coordination unit of new cases of mutated cancers as well as the referent investigator, jointly they will be in charge of data entry.
The diagnostic and follow-up data of each patient will be collected prospectively.
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
- •Any tumor presenting a variant of the exonuclease domain of POLE (exons 9 to 14) classified as pathogenic by the project working group, including: the 4 hotspots of mutations described (codons 286 (P286R/H/L), 411 (V411L), 459 (S459F), 424 (L424/V/I), (2).
- •Any tumor presenting a variant of the exonuclease domain of PolD1 (exons 8-12), classified as pathogenic by the project working group, including : C319Y(10).
- •Diagnosis made from the date of launch of the cohort and in the previous year
- •Age ≥ 18 years
排除标准
- •Tumor without POLE or POLD1 mutation
- •Tumor with POLE mutation identified in research studies retrospective research
- •Opposition of the patient to the registration of his data in the cohort
结局指标
主要结局
Molecular characterization of the identified POLE/POLD1 mutations
时间窗: October 2027
Molecular characterization of the identified POLE/POLD1 mutations and of the mutational profile associated with these mutations
To identify and describe the clinico-biological and molecular characteristics of tumors with somatic POLE/POLD1 mutation identified by molecular biology platforms for all stages and primary sites
时间窗: October 2027
Collection and description of clinical and histo-pathological data of tumors with POLE/POLD1 mutation
Overall survival and response to treatments
时间窗: October 2027
Analysis of overall survival and response to treatments (chemotherapies, immunotherapies...)
次要结局
- database and block librabry(October 2027)