ESMO Virtual Congress 2020: Tumour-Only Sequencing Led to Inflated Tumour Mutational Burden Estimation Especially in Under-Represented Ethnic Groups

(UroToday.com) Tumor-only sequencing panels can capture many relevant pathogenic somatic mutations in patient tumors but also detect germline variants that are not represented in population-level germline variant databases and likely over-estimate tumor mutational burden (TMB)¹. As many ethnic groups are under-represented in these population-level germline databases, the authors of this presentation hypothesized that TMB estimates in these patients would also be inflated.