BRCA 1/2 are tumor suppressor genes that play a key role in the process of DNA homologous recombination. The stability of DNA structure will be influenced if BRCA 1/2 are mutated and lost their activity. Both BRCA 1/2 germline and somatic mutations can be related to many kinds of cancer, mainly breast and ovarian cancers.
Clinical studies have shown that patients with BRCA 1/2 mutations can benefit from the treatment of PARP inhibitors.
Assay Highlights
Innovative HANDLE PCR system
Perform liquid handling within one tube, no need to transfer
Hands-on time <45 min
Samples: FFPE, fresh tissues and blood
Coverage: intron-exon boundaries, promoter range, UTR range
Target length: 120~160bp
CE-IVD
Sensitivity: 1%
Suitable for ALL Illumina platform
ANDAS data analysis system included
Technological Principles
The test kit is based on Halo-shape Annealing and Defer-Ligation Enrichment system (HANDLE system) technology which is improved Molecular Inversion Probe (MIP) technology to capture the target gene, then through performing sequencing on Illumina platform to realize the mutation detection in target gene region.
The probe contains extension arm and ligation arm which are complementary to the target gene region. When the extension arm and ligation arm anchor to the target gene, with the help of DNA polymerase, the DNA is extended from extension arm to ligation arm. The ligase joins the incision to obtain a circular product. Exonuclease is used to digest probe, sing-strand and double-strand nucleic acid, only the circular product remains. Then the PCR amplification is performed with the common sequence on probes to obtain the enriched and target library.