A Gene Hunting Study for Familial Papillary Thyroid Cancer

NCT02776969 | Active Not Recruiting

• 1 other identifier: OSU-9812
• Study Type: observational
• Target: 1,200
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Thyroid

Keywords

Papillary Carcinoma; Gene Hunting; Familial

Outcome Measures

Primary Outcomes (1)

• Genetic variants associated with familial papillary thyroid cancer as assessed by multiple genetic testing methodologies

  Variants will be assessed for segregation within families, expression in the normal thyroid and/or thyroid cancer, and functional significance

  Up to 5 years

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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.

You may not qualify if:

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

Sponsors & Collaborators

• Ohio State University Comprehensive Cancer Center: lead

Study Sites (1)

Ohio State University Comprehensive Cancer Center

Columbus, Ohio, 43210, United States

Location

Related Links

• The Jamesline

Biospecimen

Retention: SAMPLES WITH DNA

DNA, RNA, and (in some cases) lymphoblastoid cell lines will be maintained in the Ohio State University (OSU) Division of Human Genetics Sample Bank for the duration of the study.

MeSH Terms

Conditions

Thyroid Diseases; Carcinoma, Papillary

Condition Hierarchy (Ancestors)

Endocrine System Diseases; Carcinoma; Neoplasms, Glandular and Epithelial; Neoplasms by Histologic Type; Neoplasms; Neoplasms, Squamous Cell

Study Officials

• Matthew Ringel, MD

  Ohio State University Comprehensive Cancer Center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: May 12, 2016
• First Posted: May 19, 2016
• Study Start: August 5, 1998
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): December 1, 2026
• Last Updated: October 3, 2025

Record last verified: 2025-10

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)