A high-throughput sequencing platform based product for detection of 565 solid tumor-related genes one-time, which covers all targeted drugs, chemotherapy drug toxicity and sensitivity, immune pathway and tumor genetic susceptibility related genes information. The information includes not only CFDA or FDA approved drug information, but also covers clinical trials II / III drug information. This product also evaluates the tumor mutation burden (TMB) to predict the efficacy of immunotherapy, providing comprehensive and meaningful information for precise medical care, combination therapy, and clinical trials.
Comprehensive detection of the entire exon region and part of the intron region of 565 tumor development related genes, covering the global clinical multi-line drug target information and clinical trials drugs information for doctors and patients to provide a comprehensive drug selection.
20 pairs of tumor-related signal pathway are analysis and enrichment, which guide the signal pathway vertical and horizontal inhibition selection. IFN-γ pathway analysis (study shows that IFN-γ pathway mutations are often the key to tumor resistance immunotherapy) predicts the efficacy of immunotherapy.
Tumor Mutation Burden refers to the number of somatic non-synonymous mutations in the unit length genome of the coding region. More and more studies have shown that tumor mutation burden (TMB) is significantly associated with the efficacy of PD1 / PD-L1 antibodies, so high-throughput sequencing techniques and bioinformatics can be used to assess tumor somatic mutation burden and predict immunotherapy Effect, thus avoiding the high cost of treatment and side effects.
Microsatellite instability happens frequently in TMB higher in samples. Most higher MSI samples showed higher TMB (83%), 97% samples of TMB acuity 10 mutations/Mb. With TMB increase substantially related gene on missense DNA repair pathways (MSH2 MSH6, MLH1, PMS2) and DNA polymerase.
The world's leading ultra-high-throughput illumina sequencing platform and strict quality management control system, to ensure the accuracy of the test results and reliability; international advanced algorithms and independent development of tumor gene mutation detection algorithm for the accurate analysis of tumor point mutation , Insertion / deletion, rearrangement, amplification of the variation type provides a strong guarantee.
274 cosmic high frequency mutations;
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Get tissue and blood samples
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Sequencing and analysis
1. Chalmers et al. Genome Medicine (2017) 9:34.
2. Mucci LA, et al. Familial Risk and Heritability of Cancer Among Twins in Nordic Countries. JAMA. 2016, 315(1): 68-76.
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