Prevalence of mutations in DNA repair genes in Russian patients with metastatic castration-resistant prostate cancer

O. Mailyan, A. Kalpinskiy, I. Reshetov, Yu. V. Anzhiganova, K. Nyushko, А. Kaprin, M. Golovashchenko, S. P. Kokin, V. A. Stakanov, B. Alekseev
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引用次数: 1

Abstract

Background. Prostate cancer is one of the most common malignant tumors in men. Tailored treatment approaches to metastatic castration-resistant prostate cancer based on identification of specific biomarkers have been introduced only recently. So far, the Food and Drug Administration has approved two drugs (olaparib and rucaparib) targeting the DNA repair genes.Aim. To assess the frequency of mutations in the DNA repair genes in the Russian population.Materials and methods. The article uses data from two centers (National Medical Research Radiological Center and A.I. Kryzhanovsky Krasnoyarsk Regional Clinical Oncological Dispensary) which included the largest numbers of patients in the largest Russian multicenter prospective trial ADAM. We performed genotyping of all valid tumor samples from 113 patients with metastatic castration-resistant prostate cancer to identify clinically significant mutations in the DNA repair genes.Results. Next-generation sequencing demonstrated that 27 patients (23.9 %) had clinically significant mutations in DNA repair genes were, including ATM in 6 (5.3 %), BRCA1 in 5 (4.4 %), BRCA2 in 4 (3.5 %), CDK12 in 3 (2.6 %), CHEK2 in 2 (1.8 %), PALB2 in 2 (1.8 %), BRIP1 in 2 (1.8 %), BARD1 in 1 (0.9 %), RAD51B in 1 (0.9 %), and RAD51C in 1 patient (0.9 %).Conclusion. Identification of mutations in the DNA repair genes should become a routine procedure, since a new treatment approach to metastatic castration-resistant prostate cancer is now being introduced.
俄罗斯转移性去势抵抗性前列腺癌患者DNA修复基因突变的流行
背景。前列腺癌是男性最常见的恶性肿瘤之一。针对转移性去势抵抗性前列腺癌的特异性生物标志物鉴定的定制治疗方法直到最近才被引入。到目前为止,美国食品和药物管理局已经批准了两种靶向DNA修复基因的药物(olaparib和rucaparib)。评估俄罗斯人群中DNA修复基因突变的频率。材料和方法。本文使用了来自两个中心(国家医学研究放射学中心和A.I. Kryzhanovsky克拉斯诺亚尔斯克地区临床肿瘤药房)的数据,其中包括俄罗斯最大的多中心前瞻性试验ADAM中最多的患者。我们对113例转移性去势抵抗性前列腺癌患者的所有有效肿瘤样本进行了基因分型,以确定DNA修复基因的临床显著突变。新一代测序显示27例(23.9%)患者存在具有临床意义的DNA修复基因突变,其中ATM 6例(5.3%),BRCA1 5例(4.4%),BRCA2 4例(3.5%),CDK12 3例(2.6%),CHEK2 2例(1.8%),PALB2 2例(1.8%),BRIP1 2例(1.8%),BARD1 1例(0.9%),RAD51B 1例(0.9%),RAD51C 1例(0.9%)。鉴定DNA修复基因的突变应该成为一项常规程序,因为一种新的治疗转移性去势抵抗性前列腺癌的方法正在引入。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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