A Gene Hunting Study for Familial Papillary Thyroid Cancer

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

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT02776969

Enrollment

1200

Registered

2016-05-19

Start date

1998-08-05

Completion date

2026-12-31

Last updated

2025-10-03

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Thyroid

Keywords

Papillary Carcinoma, Gene Hunting, Familial

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.

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: 1. Complete family history and medical history questionnaires 2. Sign a medical record release so that thyroid cancer pathology reports can be obtained 3. Supply a blood or saliva sample for genetic studies 4. Provide study related information to family members who are needed for family studies

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

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

Design outcomes

Primary

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

Countries

United States

Outcome results