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 comprehensively covers all protein coding regions, intron/exon boundaries, select introns, and UTR regions of the BRCA1 and BRCA2 genes. This panel enables the detection of germline/somatic SNVs/Indels as well as germline large rearrangements (LRs) from either whole blood or FFPE tissue samples.
Mutations( Hover over each mutational type to highlight genes covered )
All
BRCA1
BRCA1
LR
SNV/INDELS
BRCA2
BRCA2
LR
SNV/INDELS
Specifications
Target regions
All coding regions of BRCA1/2 genes, exon-intron boundaries, some intron and UTR regions
Alterations detected
SNV & Indel (somatic/germline), LR (germline)
Sample type
DNA from FFPE tissue, whole blood
DNA input
Optimal 50ng (minimum 30ng)
Data output per sample
0.06 Gb for germline variants
0.3 Gb for somatic variants
0.3 Gb for somatic variants
Sequencing type
PE150
Sequencer
Illumina MiSeqDx, NextSeq 500, NextSeq 550Dx
TAT for library preparation
5 hours (hands-on time <1 hour)
TAT from sample to report
3 days
Technology
It offers a time-saving and cost-effective protocol that can be completed within 5 hours, requiring just about 1 hour of hands-on time.
During the library construction process, each individual DNA molecule is tagged with a unique molecular index (UMI) at both ends. This feature enables high sensitivity in variant detection by eliminating any library amplification and sequencing bias.
The probe consists of an extension arm and a ligation arm, both complementary to the target gene region.
Target-specific probes simultaneously hybridize to the DNA/cDNA fragment, forming a circular structure with the intended target captured between the probes. Subsequently, remaining linear probes, single-strand, and double-strand DNA are digested, leaving only the target circular DNA for PCR amplification to form the final library.
The ANDAS server is installed within the same local network as the sequencer, providing the laboratory with complete control over data and security.
This ensures the protection of valuable sequencing data and downstream analysis results, including sensitive patient information. Accessible via a computer within the network, the ANDAS server and its preinstalled software offer an intuitive user interface for swift and straightforward analysis generation.
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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