When double-strand DNA breakages occur in the normal cells, they will be repaired by a mechanism of Homologous Recombination Repair (HRR) to maintain genome stability, and mutations of HRR-related genes can cause the occurrence of homologous recombination repair defects (HRD), which are presented as "Genomic Scar" (GS). With the detection of HRD, the risk of cancer incidence can be assessed, including breast cancer, ovarian cancer, pancreatic cancer, etc.; meanwhile, since most HRD tumors are highly sensitive to PARP inhibitors (PARPi) and platinum drugs, the efficacy can be predicted using the detection results of HRD to guide clinical use of these drugs.
The dark probe technology makes differential capture visible and easy.
The comprehensive HRD assessments include detection of variations in HRR-related genes and SNP-based identification of genomic scars. For the purpose of accuracy of clinical detection, the HRR gene detection and SNP-based identification of genomic scar generally require effective sequencing depth of no less than 500x and 100x respectively, to detect mutations with a frequency of no less than 1% and SNPs sites with a frequency of about 50% in Chinese healthy population. To meet the needs of differential capture, the dark probe approach, developed independently by Dynegene Technologies resolves the result instability caused by the traditional strategy of adding different ratios of probes, and subtly linearizes the capturing steps, to achieve differential capture.
Gene listing
ATM
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BRCA1
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BRCA2
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BRIP1
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BARD1
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CDK12
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CHEK1
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CHEK2
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FANCL
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PALB2
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PPP2R2A
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RAD51B
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RAD51C
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RAD51D
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RAD54L
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TP53
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PIK3CA
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ERBB2
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FOXA1
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ESR1
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Key Features of the product
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More comprehensive detection
20 HRR-related core genes were selected according to NCCN guidelines and experience from clinical trial. At the same time, about 50,000 SNPs were screened, which can be used for identification of genomic scars.
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A shorter custom optimization period
To meet the needs of differential capture, the "dark probe" approach significantly shortens the optimization period and allows easy scaling based on the customer's different needs of differential capture.
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Higher stability
The "dark probe" approach optimizes the result instability caused by the traditional strategy of adding different ratios of probes, and has higher intra-batch repeatability and inter-batch reproducibility.
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More cost-effective
Differential capture directly leads to a significant reduction in sequencing cost.
The schematic diagram of how “dark probe” work