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Article

Local Laboratory Testing of Germline BRCA Mutations vs. Myriad: A Single-Institution Experience in Korea

1
Division of Hematology-Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Korea
2
Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Korea
*
Author to whom correspondence should be addressed.
Academic Editor: Mauro G. Mastropasqua
Diagnostics 2021, 11(2), 370; https://doi.org/10.3390/diagnostics11020370
Received: 20 January 2021 / Revised: 17 February 2021 / Accepted: 20 February 2021 / Published: 22 February 2021
(This article belongs to the Section Pathology and Molecular Diagnostics)
Genetic diagnosis for human epidermal growth factor receptor 2-negative metastatic breast cancer patients with the germline BRCA (gBRCA) mutation has been emphasized since the development of polyadenosine diphosphate-ribose polymerase inhibitors. Myriad Genetics, Inc.’s (Salt Lake City, UT, USA) companion diagnostics service is almost exclusively used for genetic testing. The aim of this study was to compare the results of germline BRCA mutation tests returned by a local laboratory and those performed by Myriad. Between April 2014 and February 2018, 31 patients with gBRCA 1/2 mutation test results from both Samsung Medical Center (Seoul, Korea) and Myriad were enrolled. “Discordant: Opposite classification” was observed for only one among 27 (3.7%). This discrepancy was due to the detection of a deleterious large genomic rearrangement of BRCA 1 by Myriad. Samsung Medical Center performed multiple ligation-dependent probe amplifications (MLPA) to detect large genomic rearrangements only in high-risk patients. This one case was not suspected as high risk and MLPA was not performed. The concordant rate was 74.1% for all 27 patients. “Discordant: Laboratory’s uncertain classification” was found in 22.2% of the sample (six patients). All discrepancies were generated during interpretation of BRCA 2 gene sequencing. Further studies and standardization of genetic testing for BRCA 1/2 genes are required. View Full-Text
Keywords: breast carcinoma; genes; mutation breast carcinoma; genes; mutation
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MDPI and ACS Style

Hong, J.; Lee, J.; Kwon, M.; Kim, J.-Y.; Kim, J.-W.; Ahn, J.S.; Im, Y.-H.; Park, Y.H. Local Laboratory Testing of Germline BRCA Mutations vs. Myriad: A Single-Institution Experience in Korea. Diagnostics 2021, 11, 370. https://doi.org/10.3390/diagnostics11020370

AMA Style

Hong J, Lee J, Kwon M, Kim J-Y, Kim J-W, Ahn JS, Im Y-H, Park YH. Local Laboratory Testing of Germline BRCA Mutations vs. Myriad: A Single-Institution Experience in Korea. Diagnostics. 2021; 11(2):370. https://doi.org/10.3390/diagnostics11020370

Chicago/Turabian Style

Hong, Joohyun, Jiyun Lee, Minsuk Kwon, Ji-Yeon Kim, Jong-Won Kim, Jin S. Ahn, Young-Hyuck Im, and Yeon H. Park 2021. "Local Laboratory Testing of Germline BRCA Mutations vs. Myriad: A Single-Institution Experience in Korea" Diagnostics 11, no. 2: 370. https://doi.org/10.3390/diagnostics11020370

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