IDEntification of New Predisposition Genes in Differentiated THYroid Cancer (IDENTHY-K)

Nantes University Hospital (NUH)

Status: Terminated

Conditions: Thyroid Cancer, Nonmedullary; Differentiated Thyroid Cancer

Treatments: Genetic: WGS

Study type: Interventional

Funder types: Other

Identifiers

NCT05014698

RC19_0414

Details and patient eligibility

About

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

Full description

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.

Enrollment: 34 patients

Sex: All

Ages: 8+ years old

Volunteers: Accepts Healthy Volunteers

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)

Trial design

Primary purpose: Diagnostic

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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34 participants in 1 patient group

WGS

Experimental group

Description:

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

Treatment:

Genetic: WGS