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- 저자 : Scafe, Charles R. (검색결과 1 건)
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Lee, Ahwon,Kang, Jun,Lee, Hyoungnam,Lee, Youn Soo,Choi, Youn Jin,Lee, Keun Ho,Nistala, Goutam J,Scafe, Charles R.,Choi, Jongpill,Yoo, Jaeeun,Han M.D, Eunhee,Kim, Yonggoo,Kim, Myungshin Elsevier 2019 Pathology, research and practice Vol.215 No.11
<P><B>Abstract</B></P> <P><B>Introduction</B></P> <P>The detection of <I>BRCA1/2</I> mutations is important because PARP1 inhibitors are approved for germline and/or somatic <I>BRCA</I>-mutated advanced ovarian cancer. Next-generation sequencing (NGS) is increasingly used in clinical practice for <I>BRCA1</I>/2 mutations. The purpose of this study was to consider several conditions of NGS <I>BRCA1/2</I> assay applicable to clinical laboratory tests, in particular for using formalin fixed paraffin embedded (FFPE) ovarian tissues.</P> <P><B>Materials and methods</B></P> <P>We selected 64 ovarian cancer patients and performed Oncomine™ BRCA assay using FFPE tissue. Effect of FFPE sample quality was analyzed by NGS quality parameters including deamination metric. Somatic variants were selected by removing germline variants of peripheral blood and interpreted as pathogenic, variants of unknown significance, and false positive.</P> <P><B>Results</B></P> <P>We found a positive relationship between the number of variants over the deamination metric and FFPE age (<I>P</I> < 0.001) with a cutoff values of approximately 0.7 and 60 months, respectively. When comparing NGS results with Sanger sequencing, NGS misreported 3 of 15 variants using default parameters which were corrected after changing parameters. We detected somatic variants in eight patients and classified them into pathogenic (n = 3), VUS (n = 3) and false positive (n = 2).</P> <P><B>Conclusions</B></P> <P>This study is important for improving <I>BRCA1/2</I> mutation detection capabilities of NGS analytical pipelines and strategy to overcome their limitations using FFPE tissue in ovarian cancer patients.</P>
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