Hereditary Risk Factors for Thyroid Cancer
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 250
- 试验地点
- 2
- 主要终点
- Number of participants who have childhood or suspected familial thyroid nodules/cancer
研究概览
简要总结
Thyroid cancers can occur sporadically, but can also be found as tumors that cluster in families with other cancers or genetic syndromes. Researchers are studying thyroid cancer in children and families, with a particular interest in understanding genes and other factors that may put individuals at risk for developing thyroid cancer and thyroid nodules.
- In this study, family and medical history information is collected alongside a blood or saliva sample for genetic studies.
- Individuals with a past or present childhood thyroid cancer/nodule or a thyroid cancer suspected to be inherited in their family are invited to participate.
详细描述
The purpose of this research study is to learn more about risk factors for inherited thyroid cancer.
The investigators would like to use the participant DNA to look for alterations in genes. The investigator will perform DNA sequencing and other genetic studies to identify errors in the genes that may contribute to the formation of thyroid nodules and cancer.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Single Group
- 主要目的
- Screening
- 盲法
- None
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Individual pediatric patient with current or previous known or suspected thyroid cancer or nodule(s).
- •Individual adult patient with current or previous known or suspected thyroid cancer or nodule(s) if they come from a family with a high suspicion of hereditary cancer (as below).
- •Individuals from families with a high suspicion of hereditary thyroid cancer:
- •Families with a current or previous diagnosis of a thyroid cancer/nodule occurring in childhood (<18 years old).
- •Families with a high suspicion of hereditary thyroid cancer/nodules other than above to include:
- •Families with thyroid cancer in multiple individuals
- •Families with thyroid cancer and a known genetic syndrome
- •Families with thyroid cancer and a suspected genetic syndrome (e.g. multiple childhood cancers in the family, multiple primary cancers, multiple endocrinopathies, etc.)
排除标准
- •Individuals who are unable to give informed consent.
- •Individuals who are unable to complete study materials.
研究组 & 干预措施
Lower Suspected Familial Predisposition
Lower Suspected Familial Predisposition
Screening and Enrollment:
Consent, Family HX, Medical HX, Blood/Saliva which will categorize by suspected hereditary predisposition: Based on family and medical history.
- Sample stored in Biorepository
Higher Suspected Familial Predisposition
Higher Suspected Familial Predisposition
Screening and Enrollment:
Consent, Family HX, Medical HX, Blood/Saliva which will categorize by suspected hereditary predisposition: Based on family and medical history.
- Specimen Testing and Analysis
•Referral to Genetic Counselor, if indicated
干预措施: •Referral to Genetic Counselor, if indicated (Genetic)
结局指标
主要结局
Number of participants who have childhood or suspected familial thyroid nodules/cancer
时间窗: 2 years
Number of germline mutations identified associated with thyroid cancer predisposition
时间窗: 2 years
Prevalence of suspected familial thyroid cancer among those with childhood thyroid nodules/cancer
时间窗: 2 years
次要结局
未报告次要终点
研究者
Junne Kamihara, MD
MD, PhD
Dana-Farber Cancer Institute