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BAP1:在致癌作用中的角色及临床意义

BAP1: role in carcinogenesis and clinical implications.

作者信息

Kobrinski Daniel A, Yang Haining, Kittaneh Muaiad

机构信息

Department of Oncology, Loyola University Chicago, Maywood, IL, USA.

Department of Cancer Biology, University of Hawaii Cancer Center, Honolulu, HI, USA.

出版信息

Transl Lung Cancer Res. 2020 Feb;9(Suppl 1):S60-S66. doi: 10.21037/tlcr.2019.11.24.

DOI:10.21037/tlcr.2019.11.24
PMID:32206571
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7082261/
Abstract

BRCA-1 associated protein 1 () 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 mutations to aid with early detection and treatment of associated malignancies. We aim to give a concise review of and its role in carcinogenesis, the cancer predisposition syndrome and discuss clinical implications including suggested screening guidelines, and potential targeted therapeutic options.

摘要

BRCA-1相关蛋白1()是一种肿瘤抑制基因,已被认为与多种恶性肿瘤的发病机制有关,并且作为一种可能适合进行治疗性调控的关键基因而受到越来越多的关注。对于携带种系突变的患者,预防和制定癌症筛查指南以帮助早期发现和治疗相关恶性肿瘤的兴趣日益浓厚。我们旨在简要综述BRCA-1相关蛋白1及其在致癌作用中的作用、BRCA-1相关蛋白1癌症易感性综合征,并讨论临床意义,包括建议的筛查指南和潜在的靶向治疗选择。

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本文引用的文献

1
Mesothelioma: Scientific clues for prevention, diagnosis, and therapy.间皮瘤:预防、诊断和治疗的科学线索。
CA Cancer J Clin. 2019 Sep;69(5):402-429. doi: 10.3322/caac.21572. Epub 2019 Jul 8.
2
Inherited predisposition to malignant mesothelioma and overall survival following platinum chemotherapy.遗传性恶性间皮瘤倾向与铂类化疗后的总生存期。
Proc Natl Acad Sci U S A. 2019 Apr 30;116(18):9008-9013. doi: 10.1073/pnas.1821510116. Epub 2019 Apr 11.
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A Subset of Mesotheliomas With Improved Survival Occurring in Carriers of BAP1 and Other Germline Mutations.在携带BAP1和其他种系突变的患者中出现的一组生存期有所改善的间皮瘤。
J Clin Oncol. 2018 Oct 30;36(35):JCO2018790352. doi: 10.1200/JCO.2018.79.0352.
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Frequency of Germline Mutations in Cancer Susceptibility Genes in Malignant Mesothelioma.恶性间皮瘤中癌症易感性基因种系突变的频率。
J Clin Oncol. 2018 Oct 1;36(28):2863-2871. doi: 10.1200/JCO.2018.78.5204. Epub 2018 Aug 16.
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Detecting germline BAP1 mutations in patients with peritoneal mesothelioma: benefits to patient and family members.检测腹膜间皮瘤患者胚系 BAP1 突变:对患者及其家庭成员的获益。
J Transl Med. 2018 Jul 13;16(1):194. doi: 10.1186/s12967-018-1559-7.
6
Germline BAP1-positive patients: the dilemmas of cancer surveillance and a proposed interdisciplinary consensus monitoring strategy.胚系 BAP1 阳性患者:癌症监测的困境和拟议的跨学科共识监测策略。
Eur J Cancer. 2018 Mar;92:48-53. doi: 10.1016/j.ejca.2017.12.022. Epub 2018 Feb 3.
7
Genotypic and Phenotypic Features of BAP1 Cancer Syndrome: A Report of 8 New Families and Review of Cases in the Literature.BAP1癌症综合征的基因型和表型特征:8个新家族的报告及文献病例综述
JAMA Dermatol. 2017 Oct 1;153(10):999-1006. doi: 10.1001/jamadermatol.2017.2330.
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Targeting EZH2 in cancer therapy.癌症治疗中靶向EZH2
Curr Opin Oncol. 2017 Sep;29(5):375-381. doi: 10.1097/CCO.0000000000000390.
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Germline BAP1 mutations induce a Warburg effect.胚系 BAP1 突变可诱导瓦博格效应。
Cell Death Differ. 2017 Oct;24(10):1694-1704. doi: 10.1038/cdd.2017.95. Epub 2017 Jun 30.
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BAP1 regulates IP3R3-mediated Ca flux to mitochondria suppressing cell transformation.BAP1调节IP3R3介导的钙流入线粒体,从而抑制细胞转化。
Nature. 2017 Jun 22;546(7659):549-553. doi: 10.1038/nature22798. Epub 2017 Jun 14.