A Strategy to Search for Genes Predisposing to Papillary Carcinoma of the Thyroid When Mutated
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 1,200
- 试验地点
- 1
- 主要终点
- Genetic variants associated with familial papillary thyroid cancer as assessed by multiple genetic testing methodologies
研究概览
简要总结
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.
详细描述
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
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •Known germline predisposition (ex: pathogenic PTEN variant)
- •Non-English speaking
结局指标
主要结局
Genetic variants associated with familial papillary thyroid cancer as assessed by multiple genetic testing methodologies
时间窗: Up to 5 years
Variants will be assessed for segregation within families, expression in the normal thyroid and/or thyroid cancer, and functional significance
次要结局
未报告次要终点
研究者
Matthew Ringel
Principal Investigator
Ohio State University Comprehensive Cancer Center