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临床试验/NCT01904630
NCT01904630已完成不适用

Exom-sekvensering for å Identifisere høyrisiko Genvarianter i en Familie Predisponert for Colorectal Cancer

Norwegian University of Science and Technology1 个研究点 分布在 1 个国家目标入组 14 人开始时间: 2012年12月最近更新:
适应症

试验速览

阶段
不适用
状态
已完成
入组人数
14
试验地点
1
主要终点
Data on association between sequence variants in exons and CRC risk

研究概览

简要总结

The project will use exome sequencing to search for genetic predispositions for familial colorectal cancer (CRC). Except for certain syndromes there is today no good method for identifying individuals with a hereditary high risk for CRC (about 25% of the cases). There is currently no routine screening of the population in Norway for CRC today. Coloscopy, which is the most reliable method, is demanding with respect to resources, it can be painful, and may have complications. This project will attempt to find genetic determinants for identification of individuals with increased risk for familial CRC. Such methods will reduce unnecessary medical examination of unaffected family members, and will make it easier to focus health services on individuals with increased risk. This will represent a significant contribution towards improved health reduced death rate caused by CRC. The project includes research on the ethical aspects, in particular challenges related to how feedback to donors is handled.

详细描述

Participants will be from a specific family, and will be selected by invitation to volunteer.

研究设计

研究类型
Observational
观察模型
Family Based
时间视角
Cross Sectional

入排标准

年龄范围
20 Years 至 —(Adult, Older Adult)
性别
All
接受健康志愿者

入选标准

  • Member of a specific family with increased risk of CRC, including individuals both with and without CRC

排除标准

  • Young age

结局指标

主要结局

Data on association between sequence variants in exons and CRC risk

时间窗: Data available within 18 months after recruitment completed

For each participant the genome will be analyzed by exome capture and high throughput sequencing. The exome data will be compared between participants and to reference data for identification of unique variants that can be associated with disease risk.

次要结局

未报告次要终点

研究者

申办方类型
Other
责任方
Sponsor

研究点 (1)

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