TMB
Tumor Mutation Burden
The tumor mutation load (TMB) represents the total number of mutations per coding area of a tumor genome calculated through the genomic sequencing of tumor tissue samples. It has been found that the value of TMB correlates with the efficacy of anti-PD-L1 / PD-1 immunotherapies in some types of tumors.
About
The tumor mutation load (TMB) represents the total number of mutations per coding area of a tumor genome calculated through the genomic sequencing of tumor tissue samples. It has been found that the value of TMB correlates with the efficacy of anti-PD-L1 / PD-1 immunotherapies in some types of tumors.
TMB algorithm
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The TMB is calculated based on the regions of the coding DNA sequence (CDS) included in the NovoPM panel (approximately 1.5Mb).
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In somatic mutations they are identified by VarScan2.
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In the following mutations are excluded from the TMB calculation:
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Germline mutations
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Low frequency mutations (threshold = 2%)
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Known driver mutations (EGFR, MET, BRAF, PIK3CA, NF1, KRAS and NOTCH family)
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Synonymous mutations
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Repeat regions
