A functional assay to classify genetic variants in Lynch syndrome

林奇综合征遗传变异分类的功能分析

• 批准号: nhmrc : 1108179
• 负责人: A/Pr Daniel Park
• 金额: $ 25.05万
• 依托单位: The University of Melbourne
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2016
• 资助国家: 澳大利亚
• 起止时间: 2016-01-01 至 2017-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/functional-assay-classify-lynch-syndrome/663030
• 关键词: functional; assay; classify; genetic; variants

At least one person in every 1000 is affected by Lynch syndrome, in which faulty DNA repair machinery causes high rates of cancer. People with Lynch syndrome can have their risk of cancer cut substantially with regular screening. However, we often struggle to understand whether people with 'non-standard' DNA sequences in particular genes actually have Lynch syndrome. This project develops a simple test that will tell clinicians whether a given sequence change relates to Lynch syndrome or not.

每1000人中至少有一人受到林奇综合征的影响，即DNA修复机制故障会导致高癌症发生率。通过定期筛查，患有林奇综合征的人患癌症的风险可以大幅降低。然而，我们常常很难理解，具有特定基因的非标准DNA序列的人是否真的患有林奇综合症。该项目开发了一种简单的测试，可以告诉临床医生给定的序列变化是否与林奇综合征有关。