Hereditary Risk Factors for Thyroid Cancer

Study Overview
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Brief Summary
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Thyroid cancers can occur sporadically, but can also be found as tumors that cluster in families with other cancers or genetic syndromes. Researchers are studying thyroid cancer in children and families, with a particular interest in understanding genes and other factors that may put individuals at risk for developing thyroid cancer and thyroid nodules. In this study, family and medical history information is collected alongside a blood or saliva sample for genetic studies. Individuals with a past or present childhood thyroid cancer/nodule or a thyroid cancer suspected to be inherited in their family are invited to participate.

Detailed Description
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The purpose of this research study is to learn more about risk factors for inherited thyroid cancer. The investigators would like to use the participant DNA to look for alterations in genes. The investigator will perform DNA sequencing and other genetic studies to identify errors in the genes that may contribute to the formation of thyroid nodules and cancer.

Official Title
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Hereditary Risk Factors for Thyroid Cancer

Conditions
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Thyroid Cancer

Intervention / Treatment
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* Genetic: •Referral to Genetic Counselor, if indicated


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Individual pediatric patient with current or previous known or suspected thyroid cancer or nodule(s). Individual adult patient with current or previous known or suspected thyroid cancer or nodule(s) if they come from a family with a high suspicion of hereditary cancer (as below). Individuals from families with a high suspicion of hereditary thyroid cancer: Families with a current or previous diagnosis of a thyroid cancer/nodule occurring in childhood (<18 years old). Families with a high suspicion of hereditary thyroid cancer/nodules other than above to include: Families with thyroid cancer in multiple individuals Families with thyroid cancer and a known genetic syndrome Families with thyroid cancer and a suspected genetic syndrome (e.g. multiple childhood cancers in the family, multiple primary cancers, multiple endocrinopathies, etc.) Exclusion Criteria: Individuals who are unable to give informed consent. Individuals who are unable to complete study materials.
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: Screening
Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| No Intervention: Lower Suspected Familial Predisposition<br>Lower Suspected Familial Predisposition Screening and Enrollment: Consent, Family HX, Medical HX, Blood/Saliva which will categorize by suspected hereditary predisposition: Based on family and medical history. - Sample stored in Biorepository | |
| Experimental: Higher Suspected Familial Predisposition<br>Higher Suspected Familial Predisposition Screening and Enrollment: Consent, Family HX, Medical HX, Blood/Saliva which will categorize by suspected hereditary predisposition: Based on family and medical history. - Specimen Testing and Analysis •Referral to Genetic Counselor, if indicated | Genetic: •Referral to Genetic Counselor, if indicated<br> <br> |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Number of participants who have childhood or suspected familial thyroid nodules/cancer |  | 2 years | 
| Number of germline mutations identified associated with thyroid cancer predisposition |  | 2 years | 
| Prevalence of suspected familial thyroid cancer among those with childhood thyroid nodules/cancer |  | 2 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Thyroid