Method for detecting tumor deletion mutation load of molecular marker
A molecular marker and deletion mutation technology, applied in the field of biomedicine, can solve the problem of low response rate of immunotherapy and achieve the effect of predicting the efficacy of immunotherapy
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Embodiment 1
[0038] This example discloses the use of MSI detection to prove whether TDB can be used to predict the efficacy of immunotherapy; the sample set is tissue samples from 113 patients with gastric cancer; the sequencing method is exome sequencing; the selected analysis method is using MSIsensor The bioinformatics analysis tool calculates the MSI score; calculates the number of mutation sites for insertion (insertion) and deletion (deletion) in the exon region; calculates the tumor mutation burden (TMB) in the exon region, and the calculation formula is TMB=T / S, where S is the size of the exon region calculated to meet the high-depth sequencing standard, and T is the number of somatic mutations in the region, where somatic mutations include all non-synonymous mutations in the coding region, but exclude tumor gene driver mutations .
[0039] Depend on figure 1 It can be seen that the values of Insertion, deletion and InDel are consistent with MSI score; figure 2 It can be see...
Embodiment 2
[0041] This example discloses expanding cancer types and assessing whether TDB has a better predictive effect of immunotherapy than TMB. Sample set: Select 1561 sample data from the TCGA database, including 431 cases of colon cancer (COAD), 157 cases of rectal adenocarcinoma (READ), 532 cases of endometrial cancer (UCEC), and 441 cases of gastric cancer (STAD); sequencing method: Exome sequencing; analysis method: use MSIsensor bioinformatics analysis tool to calculate MSI score; calculate the number of mutation sites for insertion and deletion in the exon region; use standard bioinformatics process to calculate TMB.
[0042] Depend on Figure 5 It can be seen that the degree of deletion deletion mutation (included in the somatic variant) is significantly different in the microsatellite stable site set MSS and the microsatellite unstable site set MSI-H, and in the microsatellite unstable MSI-H In the site concentration of H, the degree of deletion mutation is higher; the non-...
Embodiment 3
[0044] This example discloses the sequencing method for target region capture, and evaluates whether TDB can be used as an indicator for predicting the effect of immunotherapy; sample set: select 180 tumor samples; sequencing method: target region capture sequencing (ChosenOne599Ⓡ); analysis method: use The MSI sensor bioinformatics analysis tool calculates the MSI score; the number of mutation sites for deletion deletion is calculated for the target capture region; conclusion: using the target region capture sequencing method, the consistency analysis results with MSI show that TDB may be a good immune Treatment efficacy predictive index; Among them, a molecular marker tumor deletion mutation load detection method and its flow chart in predicting the efficacy of immunotherapy are shown in Figure 7 .
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