BRCA基因与卵巢癌诊治相关的研究进展

doi:10.12280/gjfckx.20200655

摘要/Abstract

摘要：

卵巢癌是威胁女性生命健康最常见的恶性肿瘤之一,死亡率居妇科肿瘤之首。乳腺癌易感基因（breast cancer susceptibility gene,BRCA）是重要的肿瘤遗传易感基因,参与调节DNA的损伤修复、细胞生长及凋亡,在维持细胞遗传稳定性方面发挥着不可或缺的作用。BRCA基因突变导致约80%遗传相关性卵巢癌的发生,通过对BRCA基因突变进行筛查检测,能有效评估预测卵巢癌发病风险,干预降低发病率并指导精准治疗。BRCA基因突变存在明显的种族及地域特异性,且显著影响卵巢癌发病率及发病年龄,开展多中心研究、建立相关数据库、制定符合国人的诊治标准是必然趋势。

关键词: 卵巢肿瘤, 基因, BRCA1, 基因, BRCA2, 突变, 同源重组, 分子靶向治疗

Abstract:

Ovarian cancer is one of the most common malignant tumors threatening women′s life and health, and its mortality rate ranks first among gynecological tumors. Breast cancer susceptibility gene (BRCA) is an important cancer susceptibility gene. It takes part in the regulation of DNA damage repair, cell growth and apoptosis, and plays an indispensable role in maintaining cell genetic stability. The mutation of BRCA gene leads to the occurrence about 80% of genetic related ovarian cancer. Through the screening and detection of BRCA gene mutation, the risk of ovarian cancer can be effectively evaluated and predicted. The incidence of ovarian cancer can be reduced through intervention and accurate treatment can be guided. BRCA gene mutations have obvious ethnic and geographic specificity, and significantly affect the incidence rate and age of onset of ovarian cancer. It is an inevitable trend to carry out multi-center research, establish related databases, and formulate diagnostic and treatment standards that meet the Chinese people.

Key words: Ovarian neoplasms, Genes, BRCA1, Genes, BRCA2, Mutation, Homologous recombination, Molecular targeted therapy

陈振波, 孟元光. BRCA基因与卵巢癌诊治相关的研究进展[J]. 国际妇产科学杂志, 2021, 48(2): 144-148.

CHEN Zhen-bo, MENG Yuan-guang. Research Progress of BRCA Gene and Diagnosis and Treatment of Ovarian Cancer[J]. Journal of International Obstetrics and Gynecology, 2021, 48(2): 144-148.

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