Clinical classification of regulatory variants in breast cancer susceptibility genes

乳腺癌易感基因调控变异的临床分类

• 批准号: nhmrc : GNT1104808
• 负责人: Prof Amanda Spurdle
• 金额: $ 53.7万
• 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 无数据
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/clinical-classification-regulatory-susceptibility-genes/1346392
• 关键词: Clinical; classification; regulatory; variants; breast

Variations in our genes can confer a risk of diseases including breast cancer. Determining the clinical significance of these variations is a major and increasing challenge for genetic counselors and clinicians. This project will evaluate the clinical significance of variants in the control regions of breast cancer susceptibility genes. This research will inform the development of guidelines for interpreting such variants in a clinical setting.

我们基因的变异会增加患乳腺癌等疾病的风险。确定这些变异的临床意义是遗传咨询师和临床医生面临的一个重大且日益增加的挑战。本项目将评估乳腺癌易感基因控制区变异的临床意义。这项研究将为在临床环境中解释这些变异的指导方针的发展提供信息。