Identifying genetic factors that determine responsiveness to therapeutic HIF2a pathway inactivation in Birt-Hogg-Dubé syndrome-associated renal cell carcinoma

确定 Birt-Hogg-Dubé 综合征相关肾细胞癌中 HIF2a 通路失活治疗反应性的遗传因素

• 批准号: 473563
• 负责人: Johnson Fraser
• 金额: $ 10.93万
• 依托单位: Amsterdam UMC - Academic Medical Center (Netherlands)
• 依托单位国家: 加拿大
• 项目类别: Fellowship Programs
• 财政年份: 2022
• 资助国家: 加拿大
• 起止时间: 2022-10-01 至 2025-10-01
• 项目状态: 未结题
• 来源: https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=473563&lang=en
• 关键词: Belzutifan; Birt-Hogg-Dubé Syndrome; Functional Genomics; Hereditary Disease; Hypoxia Inducible Factor; Personalized Targeted Therapies; Pooled Genome-Wide Lentiviral Crispr Screens; Target Discovery

Birt-Hogg-Dubé syndrome (BHD) is a predisposition to renal cell carcinoma (RCC) caused by inherited mutations of the Folliculin (FLCN) gene. The lifetime risk for BHD patients to develop RCC is approximately 20%. Timely diagnosis of BHD by DNA analysis he

Birt-Hogg-Dubé综合征（BHD）是由滤泡蛋白（FLCN）基因的遗传突变引起的肾细胞癌（RCC）的易感性。BHD患者发生RCC的终生风险约为20%。通过DNA分析及时诊断BHD