A Gene Hunting Study for Familial Papillary Thyroid Cancer

October 1, 2025 updated by: Matthew Ringel, Ohio State University Comprehensive Cancer Center

A Strategy to Search for Genes Predisposing to Papillary Carcinoma of the Thyroid When Mutated

The aim of this project is to identify genetic risk factors associated with familial papillary thyroid carcinoma (PTC). Papillary thyroid cancer is a type of cancer that shows high heritability. However, the specific genetic factors that cause an increased risk have been elusive.

Study Overview

Status

Active, not recruiting

Conditions

Thyroid

Detailed Description

The aim of this project is to identify genetic risk factors associated with familial papillary thyroid carcinoma (PTC). This can be accomplished in several ways, including loss of heterozygosity studies as well as comparative gene expression analysis. When possible, linkage analysis on families with multiple individuals affected with PTC may also help identify the putative gene(s).

Study participants will be asked to:

Complete family history and medical history questionnaires
Sign a medical record release so that thyroid cancer pathology reports can be obtained
Supply a blood or saliva sample for genetic studies
Provide study related information to family members who are needed for family studies

Study Type

Observational

Enrollment (Estimated)

1200

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

United States
- Ohio
  - Columbus, Ohio, United States, 43210
    - Ohio State University Comprehensive Cancer Center

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

14 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

Sampling Method

Non-Probability Sample

Study Population

Families with at least 4 living individuals with a diagnosis of papillary thyroid carcinoma

Description

Inclusion Criteria:

Patients with a diagnosis of PTC and a family history of PTC in 3 or more living relatives
Affected and unaffected family members of the proband*
- For familial cases (families with 4 or more cases of PTC), participation will be offered to all living family members with PTC or benign thyroid disease as well as selected unaffected first and second degree relatives. Participation may also be offered to spouses when needed for analyzing parent/offspring samples.

Exclusion Criteria:

Known germline predisposition (ex: pathogenic PTEN variant)
Non-English speaking

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Observational Models: Cohort
Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Genetic variants associated with familial papillary thyroid cancer as assessed by multiple genetic testing methodologies Time Frame: Up to 5 years	Variants will be assessed for segregation within families, expression in the normal thyroid and/or thyroid cancer, and functional significance	Up to 5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Ohio State University Comprehensive Cancer Center

Investigators

Principal Investigator: Matthew Ringel, MD, Ohio State University Comprehensive Cancer Center

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

The Jamesline

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

August 5, 1998

Primary Completion (Estimated)

December 1, 2026

Study Completion (Estimated)

December 1, 2026

Study Registration Dates

First Submitted

May 12, 2016

First Submitted That Met QC Criteria

May 17, 2016

First Posted (Estimated)

May 19, 2016

Study Record Updates

Last Update Posted (Estimated)

October 3, 2025

Last Update Submitted That Met QC Criteria

October 1, 2025

Last Verified