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BRCA1/2 somatic mutation detection in formalin-fixed paraffin embedded tissue by next-generation sequencing in Korean ovarian cancer patients

机译:韩国卵巢癌患者下一代测序中福尔马林固定的石蜡嵌入组织中的BRCA1 / 2躯体突变检测

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Introduction: The detection of BRCA1/2 mutations is important because PARP1 inhibitors are approved for germline and/or somatic BRCA-mutated advanced ovarian cancer. Next-generation sequencing (NGS) is increasingly used in clinical practice for BRCA1/2 mutations. The purpose of this study was to consider several conditions of NGS BRCA1/2 assay applicable to clinical laboratory tests, in particular for using formalin fixed paraffin embedded (FFPE) ovarian tissues.
机译:简介:BRCA1 / 2突变的检测很重要,因为PARP1抑制剂被批准用于种系和/或体细胞BRCA突变的晚期卵巢癌。 下一代测序(NGS)越来越多地用于BRCA1 / 2突变的临床实践中。 本研究的目的是考虑适用于临床实验室试验的NGS BRCA1 / 2测定的几种条件,特别是使用福尔马林固定的石蜡包埋(FFPE)卵巢组织。

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