Abstract

The ERCC4/FANCQ gene is a potential candidate gene for susceptibility to hereditary breast cancer, being a participant of the Fanconi anemia (FA)/BRCA pathway required for DNA repair. ERCC4 encodes XPF endonuclease which mainly participates in nucleotide excision repair (NER) and interstrand crosslink (ICL) repair. Heterozygous mutations in ERCC4 have been identified in various cancers. In this study the heterozygous mutation c.2395C>T (p.Arg799Trp) in ERCC4 was found in a hereditary breast cancer patient using next-generation sequencing. Further screening for the ERCC4*p.Arg799Trp mutation in 966 breast cancer patients and 686 control individuals revealed heterozygous mutation carriers in both groups, but no statistically significant differences in the frequency of the mutant allele between the two samples were found. The results of our study suggest that the ERCC4*p.Arg799Trp mutation is not associated with high risk of breast cancer, although further studies are needed to evaluate the clinical significance of this mutation.

中文翻译：

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巴什科尔托斯坦斯坦乳腺癌患者ERCC4基因中罕见变异c.2395C> T（p.Arg799Trp）的分析

摘要

所述ERCC4 / FANCQ基因是易感遗传性乳腺癌的潜在候选基因，是所述范可尼贫血（FA），用于DNA修复所需的/ BRCA途径的参与者。ERCC4编码XPF核酸内切酶，该酶主要参与核苷酸切除修复（NER）和链间交联（ICL）修复。ERCC4中的杂合突变已在多种癌症中得到鉴定。在这项研究中，使用下一代测序技术在一名遗传性乳腺癌患者中发现了ERCC4中的杂合突变c.2395C> T（p.Arg799Trp）。进一步筛查ERCC4* 966名乳腺癌患者和686名对照个体中的* p.Arg799Trp突变显示两组均为杂合突变携带者，但在两个样品之间未发现突变等位基因频率的统计学显着差异。我们的研究结果表明，ERCC4 * p.Arg799Trp突变与乳腺癌的高风险无关，尽管还需要进一步的研究来评估这种突变的临床意义。