M. B. Bolieva, O. Brovkina, D. S. Khodyrev, A. G. Nikitin, A. A. Epkhiev, L. M. Voronkova, M. Gordiev
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引用次数: 0
摘要
遗传性前列腺癌通常是由 DNA 修复系统相关基因的致病变异引起的。通过识别基因畸变,可以对患者进行分层,从而实现个性化治疗,提高治疗效果。本文介绍了一例 BRCA2 基因 c.6341del (р.Pro2114fs) 遗传致病性变异携带者患转移性耐阉割前列腺癌的病例。研究结果表明,有必要使用能够检测罕见基因变异的最新方法进行基因检测。
Pathogenic BRCA2 c.6341del gene variant in a patient with prostatic cancer from the North Ossetia
Hereditary form of prostate cancer is often caused by pathogenic variants in genes associated with the DNA repair system. Identification of genetic aberrations allows to stratify patients into groups for personalization and improvement of therapy effectiveness. With this approach, it is important to take into account that the frequency of pathogenic variants can vary significantly in different ethnic populations.The article presents a case of metastatic castration-resistant prostate cancer in a carrier of hereditary pathogenic variant in the BRCA2 gene c.6341del (р.Pro2114fs). The results support the need for genetic testing using up-to-date methods capable of detecting rare genetic variants.