TP53 variant classification models to improve clinical care of patients

TP53变异分类模型可改善患者的临床护理

• 批准号: nhmrc : GNT1161589
• 金额: $ 53.33万
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2019
• 资助国家: 澳大利亚
• 起止时间: 2019-01-01 至 无数据
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/tp53-variant-classification-care-patients/1379183
• 关键词: TP53; variant; classification; models; improve

New gene testing methods are finding sequence changes in the multi-cancer gene TP53 in many cancer patients, but the consequences and cancer risk is uncertain for most variants. This hinders genetic counselling and appropriate clinical management of patients and their at-risk relatives. Using national and international expertise, this study aims to improve and standardise TP53 gene variant classification and communication to clinicians for better patient management and outcomes.

新的基因检测方法正在许多癌症患者中发现多癌基因TP53的序列变化，但大多数变异的后果和癌症风险尚不确定。这妨碍了对患者及其高危亲属进行遗传咨询和适当的临床管理。利用国家和国际专业知识，这项研究旨在改善和简化TP53基因变异分类和与临床医生的沟通，以更好地管理患者和改善预后。