IDEntification of New Predisposition Genes in Differentiated THYroid Cancer

Study Overview
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Brief Summary
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The purpose of this research is to find new predisposition genes for differentiated thyroid cancer (DTC).

Detailed Description
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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.

Official Title
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IDEntification of New Predisposition Genes in Differentiated THYroid Cancer

Conditions
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Differentiated Thyroid Cancer, Thyroid Cancer, Nonmedullary

Intervention / Treatment
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* Genetic: WGS


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: 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 Exclusion Criteria: 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)

Ages Eligible for Study
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Minimum Age: 8 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Diagnostic
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: WGS<br>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 | Genetic: WGS<br>* Whole Genome sequencing<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Type and Number of genetic variants associated with or causing the development of differentiated thyroid cancer | 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 | within 2 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Number of phenotypes associated to genotypes of CDT | By studying the association between the clinical characteristics of patients and the identified genetic variants | within 2 years | 
| Analysis of birthplace/family origin information | Definition of the spatial location of family forms of CDT and to identify possible founding effects | within 2 years |