Analyse of Tumour and Constitutional DNA for the Study of the Determinism in Child Neoplasia

  • STATUS
    Recruiting
  • participants needed
    40
  • sponsor
    University Hospital, Montpellier
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Updated on 5 August 2020
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cancer
pediatric

Summary

Background. Cancer is the leading cause of death by disease in children. Most pediatric tumors differ from adult tumors in terms of biological and clinical characteristics. In children, the part of genetic determinism could be higher since the role of environmental factors may be less pronounced than in adults and that a young age at onset is a main feature of genetic cancer predisposition. Recent studies suggested that a number of genetic predisposition remains to be characterized.

Methods. Trio-Based whole exome sequencing of germline DNA from children and parents will be performed prospectively in a multicentric study including 40 unselected cases of malignant tumor. Participating hospitals will include the CHU of Montpellier, the CHU de Nice and the AP-HP. Tumor analysis will include whole exome analysis and transcriptome for the identification of therapeutic target and contribute to confirm potential link between constitutive mutations and tumor phenotype (such as loss of expression, loss of heterozygosity).

Perspectives. This pediatric oncology study proposing a global approach integrating trio-based whole exome sequencing, somatic DNA and RNA analysis will improve the recognition of genetic predisposition and the characterization of target therapies in children with cancer.

Details
Condition Hematologic Malignancy, hematologic neoplasms, hematologic neoplasms, Pediatric Tumor, Familial Cancer, Solid Tumor, Childhood
Age 17years or below
Treatment Exome sequencing in pediatrics cancers
Clinical Study IdentifierNCT04471961
SponsorUniversity Hospital, Montpellier
Last Modified on5 August 2020

Eligibility

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Inclusion Criteria

The patient has a solid or hematological malignant tumour
The patient and both biological parents are available to participate in the study

Exclusion Criteria

The patient's parents are under guardianship or trusteeship or under legal protection Yes No
Failure to obtain written informed consent from parents (for themselves and their minor child) after a period of reflection Yes No
No affiliation to or beneficiary of a French social security scheme (for biological parents and the patient)
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