Carcinogen Metabolism, DNA Repair, Parental Exposures and Retinoblastoma
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 234
- 试验地点
- 52
- 主要终点
- Association of the probability of having a child with bilateral retinoblastoma (RB) with the paternal genotype for selected DNA repair and carcinogen metabolizing enzymes (CME) genes
研究概览
简要总结
This laboratory study is looking at genetic mutations and environmental exposure in young patients with retinoblastoma and in their parents and young healthy unrelated volunteers. Gathering information about gene mutations and environmental exposure may help doctors learn more about the causes of retinoblastoma in young patients.
详细描述
OBJECTIVES:
I. To investigate the role of genotypes for carcinogen metabolizing enzymes (CME) and DNA repair proteins(DRPs) of the father of children diagnosed with retinoblastoma (RB) and his environmental exposures prior to the child?s conception in the etiology of sporadic bilateral retinoblastoma.
II. To test if the prevalence of preconception environmental exposures and polymorphisms with known or predicted functional consequences in genes for CMEs and DRPs is different in fathers of children with sporadic bilateral RB compared with fathers of the control group.
III. To test if the prevalence of the father?s preconception environmental exposures and his polymorphisms in CMEs and DRPs differs between subsets of cases defined by the type of mutation at the RB1 gene locus.
IV. To investigate the role of genotypes for CMEs and DRPs of the mother and child and environmental exposures after the child?s conception in the etiology of sporadic unilateral RB.
研究设计
- 研究类型
- Observational
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Cases must meet the following criteria:
- •Diagnosed with sporadic retinoblastoma (RB) on or after 07/01/2006
- •No familial retinoblastoma
- •Have permission of physician to contact the parents
- •Diagnosed and/or treated at a Children's Oncology Group (COG) institution or *Wills Eye Hospital
- •Controls must meet 1 of the following criteria:
- •Mother of a child with unilateral RB
- •Father of a child with bilateral RB
- •Age-matched non-blood-related child if possible
- •Must reside in the U.S. or Canada
- •Must have telephone in the home
- •Biological parent speaks English or Spanish
- •Concurrent treatment on a therapeutic trial is NOT required
排除标准
- 未提供
结局指标
主要结局
Association of the probability of having a child with bilateral retinoblastoma (RB) with the paternal genotype for selected DNA repair and carcinogen metabolizing enzymes (CME) genes
时间窗: Not Provided
Probability that mothers of unilateral RB cases are more likely to have specific DNA-repair gene variants than the mothers of the control group
时间窗: Not Provided
Significant effect of specific DNA repair and CME genotypes on the risk of unilateral RB
时间窗: Not Provided
Probability that the bilateral RB1 mutation subtype will vary by DNA repair or CME genotype or preconception exposures of the fathers of bilateral RB cases
时间窗: Not Provided
Probability that the unilateral RB1 mutation subtype will vary by DNA repair or CME genotype of the mother, of the affected child, and with gestational exposures
时间窗: Not Provided
次要结局
未报告次要终点