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遗传性乳腺癌和卵巢癌 (HBOC):其分子特征、筛查、治疗和预后的综述。

Hereditary breast and ovarian cancer (HBOC): review of its molecular characteristics, screening, treatment, and prognosis.

机构信息

Showa University Advanced Cancer Translational Research Institute, 1-5-8 Hatanodai, Shinagawa-ku, Tokyo, 142-8555, Japan.

出版信息

Breast Cancer. 2021 Nov;28(6):1167-1180. doi: 10.1007/s12282-020-01148-2. Epub 2020 Aug 29.

DOI:10.1007/s12282-020-01148-2
PMID:32862296
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8514387/
Abstract

Breast cancer is a common cancer affecting a large number of patients. Notably, 5-10% of all breast cancer patients are genetically predisposed to cancers. Although the most common breast cancer susceptibility genes are BRCA1 and BRCA2, which are also associated with the risk of developing ovarian and pancreatic cancer, advances in next-generation sequencing (NGS) analysis technology enabled the discovery of several non-BRCA genes responsible for breast and ovarian cancers. Studies on hereditary breast and ovarian cancer (HBOC) involve not only determining the predisposition to developing cancer, but also considering the current treatment for breast cancer, prevention of next cancer, risk diagnosis, and adoption of protective measures for relatives. We present a comprehensive review of HBOC, which will be a useful resource in the clinical setting. Many hereditary tumors, including HBOC, are syndromes characterized by the development of different types of cancer in succession. Taking advantage of knowing predisposition of susceptibility to cancer, it is important to continue and update cancer management protocols, which includes the adoption of preventive measures, countermeasures, and treatments, to accurately assess and prevent the impact of cancer on the quality of life of the next generation of patients.

摘要

乳腺癌是一种常见的癌症,影响了大量的患者。值得注意的是,所有乳腺癌患者中有 5-10%是遗传易感性癌症患者。尽管最常见的乳腺癌易感基因是 BRCA1 和 BRCA2,它们也与卵巢癌和胰腺癌的风险相关,但下一代测序(NGS)分析技术的进步使人们发现了几个负责乳腺癌和卵巢癌的非 BRCA 基因。遗传性乳腺癌和卵巢癌(HBOC)的研究不仅涉及确定患癌症的倾向,还涉及考虑当前的乳腺癌治疗、预防下一次癌症、风险诊断以及为亲属采取保护措施。我们对 HBOC 进行了全面的综述,这将是临床环境中的有用资源。许多遗传性肿瘤,包括 HBOC,都是以连续发生不同类型癌症为特征的综合征。利用对癌症易感性的了解,继续和更新癌症管理方案非常重要,其中包括采取预防措施、对策和治疗措施,以准确评估和预防癌症对下一代患者生活质量的影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/08c8/8514387/b6d47105ce7b/12282_2020_1148_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/08c8/8514387/b032106cd9d6/12282_2020_1148_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/08c8/8514387/6841b9a9e871/12282_2020_1148_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/08c8/8514387/fe10cfd5c575/12282_2020_1148_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/08c8/8514387/b6d47105ce7b/12282_2020_1148_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/08c8/8514387/b032106cd9d6/12282_2020_1148_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/08c8/8514387/6841b9a9e871/12282_2020_1148_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/08c8/8514387/fe10cfd5c575/12282_2020_1148_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/08c8/8514387/b6d47105ce7b/12282_2020_1148_Fig4_HTML.jpg

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2
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DNA Repair (Amst). 2019 Sep;81:102668. doi: 10.1016/j.dnarep.2019.102668. Epub 2019 Jul 8.
3
The first Japanese nationwide multicenter study of mutation testing in ovarian cancer: CHARacterizing the cross-sectionaL approach to Ovarian cancer geneTic TEsting of (CHARLOTTE).
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Psychooncology. 2025 Sep;34(9):e70261. doi: 10.1002/pon.70261.
4
Integrated computational and preclinical evaluation of novel synthetic pyrazole pyrazoline thiazole derivative for breast cancer therapeutics.新型合成吡唑并吡唑啉噻唑衍生物用于乳腺癌治疗的综合计算和临床前评估
Sci Rep. 2025 Aug 26;15(1):31412. doi: 10.1038/s41598-024-83046-7.
5
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