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首页> 外文期刊>Journal of genetics >Mutational analysis of the BRCA1 gene in 30 Czech ovarian cancer patients
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Mutational analysis of the BRCA1 gene in 30 Czech ovarian cancer patients

机译：捷克卵巢癌30例患者BRCA1基因的突变分析

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摘要

Ovarian cancer is one of the most severe of oncological diseases. Inherited mutations in cancer susceptibility genes play a causal role in 5-10% of newly diagnosed tumours. BRCA1 and BRCA2 gene alterations are found in the majority of these cases. The aim of this study was to analyse the BRCA1 gene in the ovarian cancer risk group to characterize the spectrum of its mutations in the Czech Republic. Five overlapping fragments amplified on both genomic DNA and cDNA were used to screen for the whole protein-coding sequence of the BRCA1 gene. These fragments were analysed by the protein truncation test (PTT) and direct sequencing. Three inactivating mutations were identified in the group of 30 Czech ovarian cancer patients: the 5382insC mutation in two unrelated patients and a deletion of exons 21 and 22 in another patient. In addition, we have found an alternatively spliced product lacking exon 5 in two other unrelated patients. The 5382insC is the most frequent alteration of the BRCA1 gene in Central and Eastern Europe. The deletion of exons 21 and 22 affects the BRCT functional domain of the BRCA1 protein. Although large genomic rearragements are known to be relatively frequent in Western European populations, no analyses have been performed in our region yet.
机译：卵巢癌是最严重的肿瘤疾病之一。癌症易感基因中的遗传突变在5-10％的新诊断肿瘤中起因果作用。在大多数这些病例中都发现了BRCA1和BRCA2基因的改变。这项研究的目的是分析卵巢癌危险人群中的BRCA1基因，以表征其在捷克共和国的突变谱。在基因组DNA和cDNA上扩增的五个重叠片段用于筛选BRCA1基因的完整蛋白质编码序列。这些片段通过蛋白质截短测试（PTT）和直接测序进行了分析。在30名捷克卵巢癌患者的组中鉴定出三个失活突变：两名无关患者中的5382insC突变，另一名患者中第21和22外显子的缺失。此外，我们在另外两名不相关的患者中发现了另一种剪接产物，缺少第5外显子。 5382insC是中欧和东欧最常见的BRCA1基因变异。外显子21和22的缺失影响BRCA1蛋白的BRCT功能结构域。尽管众所周知，大型基因组重排在西欧人口中相对频繁，但尚未在我们地区进行任何分析。

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