2023 临床实践指南:BAP1肿瘤易感综合征的诊断和监测

2023-08-22 国外肿瘤科相关专家小组(统称) Eur J Hum Genet 发表于上海

本文主要针对BAP1肿瘤易感综合征的诊断和监测提供指导建议。

中文标题:

2023 临床实践指南:BAP1肿瘤易感综合征的诊断和监测

英文标题:

Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome

发布日期:

2023-08-22

简要介绍:

BRCA1相关蛋白1 (BAP1)是一种公认的肿瘤抑制基因,生殖系BAP1致病/可能致病变异与多种肿瘤易感性相关,包括葡萄膜黑色素瘤、恶性胸膜和腹膜间皮瘤、肾细胞癌和特异性非恶性皮肤肿瘤,作为常染色体显性BAP1肿瘤易感性综合征的一部分。本文主要针对BAP1肿瘤易感综合征的诊断和监测提供指导建议。
 

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