Recruiting

Genetic Testing

Sponsor:

Dana-Farber Cancer Institute

Code:

NCT02747888

Conditions

Thyroid Cancer

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

Interventions

•Referral to Genetic Counselor, if indicated

Study Details

Brief summary:

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.

Conditions

Thyroid Cancer

Study ID

NCT02747888

Start date

Mar 1, 2016

Status verified date

Jun, 2026

Completion date

Mar 1, 2029

Anticipated

Primary completion date

Mar 1, 2029

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

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 Design

Enrollment

250 participants

Anticipated

Allocation

Non randomized

Intervention Model

Single group

Primary purpose

Screening

Interventions and Outcome Measures

Arms

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

Interventions

•Referral to Genetic Counselor, if indicated

Primary outcome measure

  • Number of participants who have childhood or suspected familial thyroid nodules/cancer [ Time Frame: 2 years ]
  • Number of germline mutations identified associated with thyroid cancer predisposition [ Time Frame: 2 years ]
  • Prevalence of suspected familial thyroid cancer among those with childhood thyroid nodules/cancer [ Time Frame: 2 years ]

Central Contacts and Locations

Central contacts

Junne Kamihara, MD, PhD

617.632.3044junne_kamihara@dfci.harvard.edu

Sarah Hunt, MPH

sarah_hunt@dfci.harvard.edu

Locations

Dana Farber Cancer Institute

Recruiting

Boston, Massachusetts, United States, 02115

Contacts

Junne Kamihara, MD, PhD

617.632.3044

Principal Investigator:

Junne Kamihara, MD, PhD

More Information

Sponsor

Dana-Farber Cancer Institute

Last update posted

Jun 11, 2026

Last verified

Jun, 2026

Keywords

  • Thyroid

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Dana-Farber Cancer Institute on 2026-06-11.