Ostrowska Malgorzata, Olszewska-Bozek Karolina, Podlodowska Justyna, Sierocinska-Sawa Jadwiga, Wojcierowski Jacek
Department of Biotechnology, Microbiology and Human Nutrition, University of Life Sciences in Lublin, 8 Skromna St., 20-704 Lublin, Poland.
Laboratory of Genetic Investigations, B. Dobrzanskiego 7 St., 20-262 Lublin.
J Genomics. 2022 Feb 14;10:33-38. doi: 10.7150/jgen.68220. eCollection 2022.
Determination of the mutation status in patients with breast and/or ovarian cancer is commonly performed using various molecular techniques. The use of targeted PCR-based tests only may not be sufficient, as not all possible variants are investigated. In the present study, we used next-generation sequencing (NGS) techniques to identify novel pathogenic variants in and . In this study, material (blood and FFPE) collected from a 67-year-old patient with ovarian cancer was used. The presence of hereditary mutations characteristic for the Polish population was examined using Sanger sequencing. and gene exons were amplified using the Devyser BRCA kit and sequenced on the Miniseq. No germline mutations characteristic for the Polish population were detected. However, 12 single nucleotide variants and 2 indels were identified. We found a new deleterious mutation of gene (c.829_832delAATA). To our knowledge, this mutation has not been reported yet in the Polish population and elsewhere. The use of the NGS technique increases the possibility of detecting mutational changes in patients with ovarian and/or breast cancer. Quick determination of pathogenic variants is important to facilitate specific therapy, in addition to the identification of familial predisposition to cancer.
乳腺癌和/或卵巢癌患者的突变状态通常使用各种分子技术来确定。仅使用基于靶向PCR的检测可能并不充分，因为并非所有可能的变异都被研究。在本研究中，我们使用下一代测序（NGS）技术来鉴定[具体癌症类型]中的新型致病变异。在本研究中，使用了从一名67岁卵巢癌患者收集的材料（血液和福尔马林固定石蜡包埋组织）。使用桑格测序法检测波兰人群特有的遗传性突变的存在。使用Devyser BRCA试剂盒扩增[具体基因]基因外显子，并在Miniseq上进行测序。未检测到波兰人群特有的种系突变。然而，鉴定出12个单核苷酸变异和2个插入缺失。我们发现了[具体基因]基因的一个新的有害突变（c.829_832delAATA）。据我们所知，这种突变在波兰人群和其他地方尚未见报道。NGS技术的使用增加了检测卵巢癌和/或乳腺癌患者突变变化的可能性。快速确定致病变异对于促进特定治疗以及识别癌症家族易感性都很重要。
