A Gene Hunting Study for Familial Papillary Thyroid Cancer

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.

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

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