brca相关卵巢癌:当前文献综述

T. E. Tikhomirova, A. Tyulyandina, A. A. Rumyantsev, M. E. Abramov, A. Anokhin, A. Lud, S. Tjulandin
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引用次数: 0

摘要

癌症是一种异质性疾病,是所有妇科恶性肿瘤的主要死亡原因。该疾病的特征是BRCA1/2抑制基因的种系和体细胞突变频率很高,根据各种来源,这些突变发生在所有癌症卵巢病例中的10-27%。BRCA1/2基因突变的确定是一项强制性的诊断标准,包括进行下一代测序。了解疾病突变状态不仅在确定治疗计划的情况下很重要,而且在预防其他恶性肿瘤的情况下也很重要。本文旨在总结BRCA相关性卵巢癌症的疾病特征、诊断和治疗的最新资料。此外,本文还提供了一项非介入性多中心OvATAR研究的数据,以评估俄罗斯患者群体中BRCA1/2基因种系和体细胞突变的患病率。
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BRCA-associated ovarian cancer: a review of the current literature
Ovarian cancer is a heterogeneous disease and is the leading cause of mortality among all gynecological malignancies. The disease is characterized by a high frequency of germline and somatic mutations in BRCA1/2 suppressor genes, which, according to various sources, occur in 10–27 % of all ovarian cancer cases. Determination of mutations in BRCA1 / 2 genes is a mandatory diagnostic criteria and includes performing next generation sequencing. Knowledge of the disease mutational status is important not only in the case of determining treatment plan, but also in the case of prevention of the other malignant neoplasms. The purpose of this review is to summarize the current data on the disease characteristics, diagnosis and treatment of BRCA-associated ovarian cancer. Also, the article presents data from a non-interventional multicenter OvATAR study to assess the prevalence of germline and somatic mutations in BRCA1 / 2 genes in the Russian patient population.
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