A functional assay to classify genetic variants in Lynch syndrome

每1000人中至少有一人患有林奇综合症，这种疾病的DNA修复机制有缺陷，导致癌症的发病率很高。患有林奇综合症的人可以通过定期筛查大大降低患癌症的风险。然而，我们常常难以理解在特定基因中具有“非标准”DNA序列的人是否真的患有林奇综合征。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Lynch综合征有关。

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.