Next-generation sequencing of BRCA1/2 in breast cancer patients: potential effects on clinical decision-making using rapid, high-accuracy genetic results.
10.4174/astr.2017.92.5.331
- Author:
Hyung Seok PARK
1
;
Seo Jin PARK
;
Jee Ye KIM
;
Sanghwa KIM
;
Jaegyu RYU
;
Joohyuk SOHN
;
Seho PARK
;
Gun Min KIM
;
In Sik HWANG
;
Jong Rak CHOI
;
Seung Il KIM
Author Information
1. Department of Surgery, Yonsei University College of Medicine, Seoul, Korea. hyungseokpark.md@gmail.com
- Publication Type:Original Article
- Keywords:
BRCA1;
BRCA2;
Breast neoplasms;
High-throughput nucleotide sequencing
- MeSH:
Breast Neoplasms*;
Breast*;
Clinical Decision-Making*;
Drug Therapy;
High-Throughput Nucleotide Sequencing;
Humans;
Methods;
Prospective Studies
- From:Annals of Surgical Treatment and Research
2017;92(5):331-339
- CountryRepublic of Korea
- Language:English
-
Abstract:
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.
