Frequency, Clinical Phenotype and Genetic Analysis of Heritable Kidney Cancer Syndromes
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 500
- 试验地点
- 1
- 主要终点
- Clinical phenotypes of patients of heritable kidney cancer syndromes
研究概览
简要总结
This study will investigate the frequency, clinical phenotype, management and molecular genetic defects of heritable kidney cancer syndromes. Families with kidney cancer with known or suspected genetic basis will be enrolled. Affected individuals or individuals suspected of having a germline kidney cancer will undergo periodic clinical assessment and genetic analyses for the purpose of: 1) definition and characterization of phenotype, 2) determination of the natural history of the disorder, and 3) genotype/phenotype correlation. Genetic linkage studies may be performed in situations in which the genetic basis of the disorder has not been elucidated. This research will have a significant impact on the overall management of heritable kidney cancer syndromes patients and family members who are at risk for heritable kidney cancer syndromes. The study will ultimately facilitate the development of novel screening, prevention and treatment strategies for these individuals with the syndrome. In addition this study could have impact on the management of patients with personal and/or family history of heritable kidney cancer syndromes.
详细描述
Background:
• The genetic etiology of heritable kidney cancer syndromes remains to be determined.
Objectives:
- Define the risk of developing renal cance in heritable kidney cancer syndromes
- Define the types and characteristics (including patterns of growth) of heritable kidney cancer syndromes.
- Determine genotype/phenotype correlations.
- To characterize the natural and clinical histories of heritable kidney cancer syndromes.
- To determine the genetic etiology of heritable kidney cancer syndromes.
Design:
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
- 2 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Participants must be greater than or equal to 2 years of age. All patients and guardians (for children younger than 18 years of age) must sign an informed consent document indicating their understanding of the investigational nature and the risks of this study before any protocol related studies are performed. Patients under the age of 18 but who are age 13 or older will be asked to sign an assent document prior to participation.
- •Individuals and biologic family members with a suspected or an established diagnosis of a heritable kidney cancer syndrome in which the disease gene is known, including von Hippel-Lindau (VHL) and hereditary papillary renal carcinoma (HPRC).
- •Individuals and biologic family members with a suspected or an established diagnosis of a heritable kidney cancer syndrome in which the disease gene is not yet known, specifically hereditary forms of Type II papillary renal cancer, clear cell renal carcinoma, renal oncocytoma, chromophobe renal carcinoma or Birt Hogg Dube.
- •Individuals and biologic family members who have heritable kidney cancer syndromes of suspected, but not proven genetic etiology, including families with more than one individual affected by the same or related cancers.
- •Subject Enrollment Categories (to include both affected and unaffected biologic relatives).
排除标准
- •Pregnant women are excluded from enrollment onto this study because there is no direct benefit for participating in the study.
结局指标
主要结局
Clinical phenotypes of patients of heritable kidney cancer syndromes
时间窗: 5 years
Chart review of disease outcome
Genotypes of patients of heritable kidney cancer syndromes
时间窗: 5 years
Genotyping for genetic variants that could modify the risk of cancer in subjects.
次要结局
- Prevalence of germline variants in the unselected general population of renal cancer patients(5 years)
- Clinical phenotypes of family members of the patients(5 years)