Abstract

Genetic predisposition is one of the main risk factors for developing breast cancer (BC) and ovarian cancer (OC). We conducted an analysis of the epidemiology of BRCA1 and BRCA2 gene mutations in the Russian population and analyzed domestic and international clinical practice of molecular genetic testing of patients with breast and/or ovarian cancer for mutations in the BRCA1 and BRCA2 genes. The efficiency of mutation detection largely depends on the chosen technology of molecular genetic testing (MGT). 5382insC, 4153delA, 185delAG, 300T>G (in the BRCA1 gene) and 6174delT (in the BRCA2 gene) are the most common BRCA mutations in the Russian population. Comparison of domestic and foreign clinical recommendations showed that the scope of MGT results on BRCA mutations is wider in international clinical practice than in Russian practice. The choice of MGT technology is an important issue for clinical practice. The main advantage of NGS technology is the ability to detect mutations in any part of the BRCA1/2 genes.

中文翻译：

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评估卵巢癌和乳腺癌患者BRCA基因突变的分子遗传学检测的相关性

摘要

遗传易感性是发展乳腺癌（BC）和卵巢癌（OC）的主要危险因素之一。我们进行的流行病学的分析BRCA1和BRCA2俄罗斯人口基因突变分析乳腺癌患者和/或卵巢癌在突变的分子遗传学检测的国内外临床实践BRCA1和BRCA2基因。突变检测的效率在很大程度上取决于所选的分子遗传测试（MGT）技术。最常见的BRCA是5382insC，4153delA，185delAG，300T> G（在BRCA1基因中）和6174delT（在BRCA2基因中）俄罗斯人口的突变。国内外临床建议的比较表明，BRCA突变的MGT结果的范围在国际临床实践中比在俄罗斯实践中更广泛。MGT技术的选择是临床实践中的重要问题。NGS技术的主要优势是能够检测BRCA1 / 2基因任何部分的突变。