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KMID : 1100820210110040283
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Laboratory Medicine Online
2021 Volume.11 No. 4 p.283 ~ p.289
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Evaluation of a Targeted Next-generation Sequencing Assay for BRCA Mutation Screening in Clinical Samples
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Kim Man-Jin
Song Byeong-Ju
Kim Si-Eun
Lee Chang-Seon
Im Ji-Eun
Oh En-Sel
Lee Keun-Sook
Cho Sung-Im
Kim Kwang-Joong
Park Sung-Sup
Seong Moon-Woo
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Abstract
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Background: While several factors contribute to breast cancer pathogenesis, hereditary breast cancer results from a genetic predisposition. Genes associated with hereditary breast cancer may be divided into high- and low-penetrance genes depending on their risk rates. BRCA1 and BRCA2 are typical high-penetrance genes that increase the risk of developing breast and ovarian cancers upon undergoing mutations. This study aimed to evaluate the clinical performance of BRCAaccuTestTM (NGeneBio, Korea).
Methods: BRCAaccuTestTM is a reagent used to produce libraries for analyzing BRCA1/2 genes using next-generation sequencing (NGS), which analyzes blood-derived genomic DNA. Libraries with adapters and barcodes compatible with the Illumina platform were produced. The clinical performance of NGS-based BRCAaccuTestTM in identifying BRCA1/2 mutations was compared with that of the traditional Sanger sequencing method. Both NGS and Sanger sequencing were performed in a single laboratory using archival DNA from blood samples of 212 patients with breast cancer.
Results: All target regions amplified were successfully sequenced to obtain a minimum coverage of 20, demonstrating 100% concordance with the pathogenic single-nucleotide variations and small insertions-deletions previously identified by Sanger sequencing.
Conclusions: This study demonstrates the feasibility of using BRCAaccuTestTM to detect the BRCA1/2 mutations with high accuracy.
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KEYWORD
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BRCA, Mutation, Next-generation sequencing, in vitro diagnosis, Hereditary breast and ovarian cancer (HBOC) syndrome
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