跳至主要内容
临床试验/NCT04141462
NCT04141462招募中不适用

EXOME Analysis Position in the Strategy of Genetic Predisposition Factors Identification in Early-onset Cancer

Centre Georges Francois Leclerc7 个研究点 分布在 1 个国家目标入组 613 人开始时间: 2019年10月7日最近更新:
适应症

试验速览

阶段
不适用
状态
招募中
入组人数
613
试验地点
7
主要终点
genetic mutations

研究概览

简要总结

5 to 10% of cancers are due to the presence of a constitutional genetic alteration. It can be inherited from parents (family form) or by accident, in the first moments of life after fertilization (sporadic form). In both cases, this genetic alteration is constitutional and transmissible to descendants. It is hereditary. When an hereditary early form is suspected, several well-known genes generally involved in genetic predispositions to cancer are found by a technique called " gene panel ". However, this analysis does not always identify the genetic predisposing factors for cancer. New techniques called "high-throughput exome sequencing (SHD-E)", allow more than the analysis of the the gene panel. These analysis allow to identify alterations in other genes that could contribute to the development of cancer. The objective of the Ex²trican study is to show, from patients with early cancer (sporadic or familial form), that this approach to exome sequencing can be effective to identify new genetic risk of cancer, when the first panel analysis of genes is negative.

详细描述

The main objective of this study is to evaluate the interest of the SHD-E approaches after a negative result of the analysis called " gene panel " tested in routine in order to identify a genetic factor of predisposition to the cancer.

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
18 Years 至 —(Adult, Older Adult)
性别
All
接受健康志愿者

入选标准

  • Index case:
  • Major or minor patient
  • Histological or cytological evidence of malignant tumor diagnosis
  • Patient with cancer before age 40 (or before age 30 for breast cancer).
  • Absence of anomaly found on the oncogenetic panel tested in the predisposition concerned
  • Patient affiliated to a social security scheme
  • Signature of Informed Consent EXTRICAN
  • Availability of a tumor sample if needed secondary functional studies
  • Availability of both parents when the trio approach will be necessary in the population 1 (or validation of the indication in CPR in case of non-availability of both parents)
  • Availability of affected relatives in population 2 (or validation of the indication in SPC in case of non-availability of the related person)
  • Major or minor patient
  • Histological or cytological evidence of the diagnosis of malignant tumor if
  • Patient affiliated to a social security scheme
  • Signing informed consent EXTRICAN

排除标准

  • Index and related case:
  • Refusal of the patient participation
  • Psychiatric illness and / or condition of the patient compromising the understanding of the information or the realization of the study
  • Patient under guardianship, curatorship or safeguard of justice
  • Pregnant woman

结局指标

主要结局

genetic mutations

时间窗: inclusion

SHD-E analysis

次要结局

未报告次要终点

研究者

申办方类型
Other
责任方
Sponsor

研究点 (7)

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