Hereditary Risk Factors for Thyroid Cancer

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.

Study Overview

• Status: Recruiting
• Conditions: Thyroid Cancer
• Intervention / Treatment: Genetic: •Referral to Genetic Counselor, if indicated

Detailed Description

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.

• Study Type: Interventional
• Enrollment (Estimated): 250
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Junne Kamihara, MD, PhD; Phone Number: 617.632.3044; Email: junne_kamihara@dfci.harvard.edu
• Study Contact Backup: Name: Sarah Hunt, MPH; Email: sarah_hunt@dfci.harvard.edu

Study Locations

• United States
  • Massachusetts
    • Boston, Massachusetts, United States, 02115
      • Recruiting
      • Dana Farber Cancer Institute
      • Contact: Junne Kamihara, MD, PhD; Phone Number: 617-632-3044
      • Principal Investigator: Junne Kamihara, MD, PhD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes

Description

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.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Screening
• Allocation: Non-Randomized
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
No Intervention: Lower Suspected Familial Predisposition; 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; 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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	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

Collaborators and Investigators

• Sponsor: Dana-Farber Cancer Institute
• Investigators: Principal Investigator: Junne Kamihara, MD, PhD, Dana-Farber Cancer Institute

Study record dates

Study Major Dates

• Study Start (Actual): March 1, 2016
• Primary Completion (Estimated): March 1, 2029
• Study Completion (Estimated): March 1, 2029

Study Registration Dates

• First Submitted: March 31, 2016
• First Submitted That Met QC Criteria: April 19, 2016
• First Posted (Estimated): April 22, 2016

Study Record Updates

• Last Update Posted (Actual): April 3, 2024
• Last Update Submitted That Met QC Criteria: April 1, 2024
• Last Verified: April 1, 2024

More Information

Terms related to this study

• Keywords: Thyroid
• Additional Relevant MeSH Terms: Neoplasms; Neoplasms by Site; Endocrine System Diseases; Endocrine Gland Neoplasms; Head and Neck Neoplasms; Thyroid Diseases; Thyroid Neoplasms
• Other Study ID Numbers: 15-159

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO