IDEntification of New Predisposition Genes in Differentiated THYroid Cancer
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 入组人数
- 34
- 试验地点
- 2
- 主要终点
- Type and Number of genetic variants associated with or causing the development of differentiated thyroid cancer
研究概览
简要总结
The purpose of this research is to find new predisposition genes for differentiated thyroid cancer (DTC).
详细描述
The purpose of this research is to find new predisposition genes for differentiated thyroid cancer (DTC). Therefore, in the absence of a BAP1 and DICER1 abnormality, we offer to sequence your whole genome (WGS) or partial genome (genotyping) for a previously unknown genetic abnormality.
Furthermore, the discovery of new genes would be a major medical advance that could contribute to the identification of new therapeutic targets.
This research will be conducted at the University Hospital of Nantes and the Hospital of Vendée and 95 people should participate.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 8 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Probant subjects
- •Minor or adult subject
- •Adult subject or legal guardian for minor subjects agreeing to sign the study consent and biospecimen consent
- •Subject with differentiated thyroid cancer without an identified causative mutation in the BAP1 and DICER 1 predisposition genes
- •Patient affiliated to a valid social security plan
- •Relative subjects
- •Adult subjects
- •Subject agreeing to sign the study consent and the biocollection consent
- •Subject with differentiated thyroid cancer or from a family with several cases of differentiated thyroid cancer without a causal mutation identified in the BAP1 and DICER 1 predisposition genes
- •Patient affiliated to a social security plan
排除标准
- •Subject refusing to participate
- •Subjects with a causal mutation identified in the predisposition genes: BAP1 and DICER 1
- •Subjects under guardianship, curatorship or safeguard of justice or not socially insured
- •Subjects with another syndromic predisposition to thyroid cancer (Cowden, Werner, PAF)
研究组 & 干预措施
WGS
at inclusion visit :
- Blood collection for whole Genome sequencing will be performed
At final visit :
the results of the WGS will be delivered to patients
干预措施: WGS (Genetic)
结局指标
主要结局
Type and Number of genetic variants associated with or causing the development of differentiated thyroid cancer
时间窗: within 2 years
To be achieved by a whole genome sequencing (WGS) approach in a familial analysis of patients with differentiated thyroid cancer. In addition, high-throughput genotyping of multiple individuals in each family will allow complementary detection of genomic regions that are shared only by affected subjects
次要结局
- Number of phenotypes associated to genotypes of CDT(within 2 years)
- Analysis of birthplace/family origin information(within 2 years)