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Next-generation sequencing of BRCA1/2 in breast cancer patients: potential effects on clinical decision-making using rapid, high-accuracy genetic results

PURPOSE: We evaluated the clinical role of rapid next-generation sequencing (NGS) for identifying BRCA1/2 mutations compared to traditional Sanger sequencing. METHODS: Twenty-four paired samples from 12 patients were analyzed in this prospective study to compare the performance of NGS to the Sanger...

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Autores principales: Park, Hyung Seok, Park, Seo-Jin, Kim, Jee Ye, Kim, Sanghwa, Ryu, Jaegyu, Sohn, Joohyuk, Park, Seho, Kim, Gun Min, Hwang, In Sik, Choi, Jong-Rak, Kim, Seung Il
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Surgical Society 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5416916/
https://www.ncbi.nlm.nih.gov/pubmed/28480178
http://dx.doi.org/10.4174/astr.2017.92.5.331
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author Park, Hyung Seok
Park, Seo-Jin
Kim, Jee Ye
Kim, Sanghwa
Ryu, Jaegyu
Sohn, Joohyuk
Park, Seho
Kim, Gun Min
Hwang, In Sik
Choi, Jong-Rak
Kim, Seung Il
author_facet Park, Hyung Seok
Park, Seo-Jin
Kim, Jee Ye
Kim, Sanghwa
Ryu, Jaegyu
Sohn, Joohyuk
Park, Seho
Kim, Gun Min
Hwang, In Sik
Choi, Jong-Rak
Kim, Seung Il
author_sort Park, Hyung Seok
collection PubMed
description PURPOSE: We evaluated the clinical role of rapid next-generation sequencing (NGS) for identifying BRCA1/2 mutations compared to traditional Sanger sequencing. METHODS: Twenty-four paired samples from 12 patients were analyzed in this prospective study to compare the performance of NGS to the Sanger method. Both NGS and Sanger sequencing were performed in 2 different laboratories using blood samples from patients with breast cancer. We then analyzed the accuracy of NGS in terms of variant calling and determining concordance rates of BRCA1/2 mutation detection. RESULTS: The overall concordance rate of BRCA1/2 mutation identification was 100%. Variants of unknown significance (VUS) were reported in two cases of BRCA1 and 3 cases of BRCA2 after Sanger sequencing, whereas NGS reported only 1 case of BRCA1 VUS, likely due to differences in reference databases used for mutation identification. The median turnaround time of Sanger sequencing was 22 days (range, 14–26 days), while the median time of NGS was only 6 days (range, 3–21 days). CONCLUSION: NGS yielded comparably accurate results to Sanger sequencing and in a much shorter time with respect to BRCA1/2 mutation identification. The shorter turnaround time and higher accuracy of NGS may help clinicians make more timely and informed decisions regarding surgery or neoadjuvant chemotherapy in patients with breast cancer.
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spelling pubmed-54169162017-05-06 Next-generation sequencing of BRCA1/2 in breast cancer patients: potential effects on clinical decision-making using rapid, high-accuracy genetic results Park, Hyung Seok Park, Seo-Jin Kim, Jee Ye Kim, Sanghwa Ryu, Jaegyu Sohn, Joohyuk Park, Seho Kim, Gun Min Hwang, In Sik Choi, Jong-Rak Kim, Seung Il Ann Surg Treat Res Original Article PURPOSE: We evaluated the clinical role of rapid next-generation sequencing (NGS) for identifying BRCA1/2 mutations compared to traditional Sanger sequencing. METHODS: Twenty-four paired samples from 12 patients were analyzed in this prospective study to compare the performance of NGS to the Sanger method. Both NGS and Sanger sequencing were performed in 2 different laboratories using blood samples from patients with breast cancer. We then analyzed the accuracy of NGS in terms of variant calling and determining concordance rates of BRCA1/2 mutation detection. RESULTS: The overall concordance rate of BRCA1/2 mutation identification was 100%. Variants of unknown significance (VUS) were reported in two cases of BRCA1 and 3 cases of BRCA2 after Sanger sequencing, whereas NGS reported only 1 case of BRCA1 VUS, likely due to differences in reference databases used for mutation identification. The median turnaround time of Sanger sequencing was 22 days (range, 14–26 days), while the median time of NGS was only 6 days (range, 3–21 days). CONCLUSION: NGS yielded comparably accurate results to Sanger sequencing and in a much shorter time with respect to BRCA1/2 mutation identification. The shorter turnaround time and higher accuracy of NGS may help clinicians make more timely and informed decisions regarding surgery or neoadjuvant chemotherapy in patients with breast cancer. The Korean Surgical Society 2017-05 2017-04-27 /pmc/articles/PMC5416916/ /pubmed/28480178 http://dx.doi.org/10.4174/astr.2017.92.5.331 Text en Copyright © 2017, the Korean Surgical Society http://creativecommons.org/licenses/by-nc/4.0/ Annals of Surgical Treatment and Research is an Open Access Journal. All articles are distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Park, Hyung Seok
Park, Seo-Jin
Kim, Jee Ye
Kim, Sanghwa
Ryu, Jaegyu
Sohn, Joohyuk
Park, Seho
Kim, Gun Min
Hwang, In Sik
Choi, Jong-Rak
Kim, Seung Il
Next-generation sequencing of BRCA1/2 in breast cancer patients: potential effects on clinical decision-making using rapid, high-accuracy genetic results
title Next-generation sequencing of BRCA1/2 in breast cancer patients: potential effects on clinical decision-making using rapid, high-accuracy genetic results
title_full Next-generation sequencing of BRCA1/2 in breast cancer patients: potential effects on clinical decision-making using rapid, high-accuracy genetic results
title_fullStr Next-generation sequencing of BRCA1/2 in breast cancer patients: potential effects on clinical decision-making using rapid, high-accuracy genetic results
title_full_unstemmed Next-generation sequencing of BRCA1/2 in breast cancer patients: potential effects on clinical decision-making using rapid, high-accuracy genetic results
title_short Next-generation sequencing of BRCA1/2 in breast cancer patients: potential effects on clinical decision-making using rapid, high-accuracy genetic results
title_sort next-generation sequencing of brca1/2 in breast cancer patients: potential effects on clinical decision-making using rapid, high-accuracy genetic results
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5416916/
https://www.ncbi.nlm.nih.gov/pubmed/28480178
http://dx.doi.org/10.4174/astr.2017.92.5.331
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