BRCA1/2 (BReast CAncer gene1/2), commonly referred to as tumor suppressor genes, play a pivotal role in regulating DNA damage repair via homologous recombination. Pathogenic mutations, whether germline or somatic, in BRCA1/2 can lead to tumors characterized by significant genomic instability. Individuals harboring pathogenic variants in BRCA1 or BRCA2 genes are at heightened risk for various cancer types, including breast, ovarian, prostate, pancreatic, and melanoma.
The AmoyDx® BRCA Pro Panel is a next-generation sequencing (NGS) based in vitro diagnostic assay intended for qualitative detection and classification of single nucleotide variants (SNVs), insertions and deletions (InDels), and large rearrangements (LRs) in protein coding regions, intron/exon boundaries, some introns and UTR regions of the BRCA1 and BRCA2 genes, using DNA isolated from peripheral whole blood or formalin-fixed paraffin embedded (FFPE) tumour tissue specimens. The detection of large rearrangement deletions and duplications is available for blood-derived DNA only. The assay is intended to aid in identifying breast cancer or ovarian cancer patients with pathogenic, or likely pathogenic BRCA variants.
White Paper
The study confirms that the AmoyDx® BRCA Pro Panel performs exceptionally well on both MGI G50 and NextSeq 550 platforms. The MGI G50 demonstrated superior sequencing quality and depth while maintaining comparable accuracy, mutation frequency detection, and detection performance. These findings validate MGI G50 as a robust and reliable platform for BRCA mutation screening in both clinical and research applications.
White Paper
1. Comparative Analysis of BRCA Pro Data on MGI DNBSEQ-G50 and NextSeq 550
The study confirms that the AmoyDx® BRCA Pro Panel performs exceptionally well on both MGI G50 and NextSeq 550 platforms. The MGI G50 demonstrated superior sequencing quality and depth while maintaining comparable accuracy, mutation frequency detection, and detection performance. These findings validate MGI G50 as a robust and reliable platform for BRCA mutation screening in both clinical and research applications.Mutations( Hover over each mutational type to highlight genes covered )
All
BRCA1
BRCA1
LR
SNV/INDELS
BRCA2
BRCA2
LR
SNV/INDELS
Specifications
Alterations detected
SNV & Indel (somatic/germline), LR (germline)
Sample type
DNA from FFPE tissue, whole blood
Sequencer
Illumina NovaSeq 6000, NextSeq 500/550, NextSeq 550Dx, MiSeq, MiSeqDx, MiniSeq, iSeq 100, Saluseq Nimbo, Salus Pro
TAT for library preparation
5 hours (hands-on time <1 hour)
TAT from sample to report
3 days
Publications
1. Dong, Z., Wang, Y., Zhang, J. et al. Analyzing the effects of BRCA1/2 variants on mRNA splicing by minigene assay. J Hum Genet 68, 65–71 (2023).
2. Zhang, R., Gao, P., Han, Y. et al. Reliable assessment of BRCA1 and BRCA2 germline variants by next-generation sequencing: a multicenter study. Breast Cancer 28, 672–683 (2021).
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