BAP1型
癌变
生殖系
医学
癌症综合征
种系突变
癌症
癌症研究
基因
发病机制
生物信息学
抑癌基因
计算生物学
突变
遗传学
免疫学
生物
内科学
作者
D. A. Kobrinski,Haining Yang,Muaiad Kittaneh
出处
期刊:Translational lung cancer research
[AME Publishing Company]
日期:2020-02-01
卷期号:9 (S1): S60-S66
被引量:29
标识
DOI:10.21037/tlcr.2019.11.24
摘要
: BRCA-1 associated protein 1 (BAP1) is a tumor suppressor gene that has been implicated in the pathogenesis of several malignancies and is gaining more recognition as a crucial gene that could be amenable to therapeutic manipulation. There is a growing interest in prevention and establishing cancer screening guidelines in patients with germline BAP1 mutations to aid with early detection and treatment of associated malignancies. We aim to give a concise review of BAP1 and its role in carcinogenesis, the BAP1 cancer predisposition syndrome and discuss clinical implications including suggested screening guidelines, and potential targeted therapeutic options.
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