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BRCA1的三十年：机制洞察及其对突变携带者的影响

Thirty Years of BRCA1: Mechanistic Insights and Their Impact on Mutation Carriers.

作者信息

Moser Sarah C, Jonkers Jos

机构信息

Division of Molecular Pathology, Netherlands Cancer Institute, Amsterdam, the Netherlands.

Oncode Institute, Utrecht, the Netherlands.

出版信息

Cancer Discov. 2025 Mar 3;15(3):461-480. doi: 10.1158/2159-8290.CD-24-1326.

DOI:10.1158/2159-8290.CD-24-1326
PMID:40025950
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11893084/
Abstract

Here, we explore the impact of three decades of BRCA1 research on the lives of mutation carriers and propose strategies to improve the prevention and treatment of BRCA1-associated cancer.

摘要

在此，我们探讨了三十年来BRCA1研究对突变携带者生活的影响，并提出了改善BRCA1相关癌症预防和治疗的策略。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/380d/11893084/07253c7aedd2/nihms-2042833-f0005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/380d/11893084/c0fac633626d/nihms-2042833-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/380d/11893084/e0d9653fb9eb/nihms-2042833-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/380d/11893084/3a8c32816248/nihms-2042833-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/380d/11893084/ad86e7fa8fb2/nihms-2042833-f0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/380d/11893084/07253c7aedd2/nihms-2042833-f0005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/380d/11893084/c0fac633626d/nihms-2042833-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/380d/11893084/e0d9653fb9eb/nihms-2042833-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/380d/11893084/3a8c32816248/nihms-2042833-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/380d/11893084/ad86e7fa8fb2/nihms-2042833-f0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/380d/11893084/07253c7aedd2/nihms-2042833-f0005.jpg

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本文引用的文献

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Nat Genet. 2024 Dec;56(12):2753-2762. doi: 10.1038/s41588-024-01988-0. Epub 2024 Nov 20.
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Inactive Parp2 causes Tp53-dependent lethal anemia by blocking replication-associated nick ligation in erythroblasts.失活的 Parp2 通过阻断红细胞中复制相关的缺口连接，导致 Tp53 依赖性致死性贫血。
Mol Cell. 2024 Oct 17;84(20):3916-3931.e7. doi: 10.1016/j.molcel.2024.09.020. Epub 2024 Oct 8.
3
BRCA genetic testing and counseling in breast cancer: how do we meet our patients' needs?
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NPJ Breast Cancer. 2024 Sep 5;10(1):77. doi: 10.1038/s41523-024-00686-8.
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The PARP1 selective inhibitor saruparib (AZD5305) elicits potent and durable antitumor activity in patient-derived BRCA1/2-associated cancer models.PARP1 选择性抑制剂芦卡帕利（AZD5305）在源自患者的 BRCA1/2 相关癌症模型中引发了强大且持久的抗肿瘤活性。
Genome Med. 2024 Aug 26;16(1):107. doi: 10.1186/s13073-024-01370-z.
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