Characterization of Mutational Signatures in Tumors from a Large Chinese Population.

ABSTRACT: The majority of mutational signatures have been characterized in tumors from American and European countries, and the degree to which mutational signatures are similar to or different from those in Chinese populations has not been fully explored. We leveraged a large-scale clinical sequencing cohort of tumors from the Chinese population developed by OrigiMed (OM). A total of 2,115 tumors from 25 major tumor types that had at least 10 single-base substitutions (SBS) were used for mutational signature analysis. Sixteen mutational signatures from the Catalogue of Somatic Mutations in Cancer (COSMIC) database were identified in the OM cohort using the musicatk package. The activity levels for most of the signatures were similar to those in a cohort from Memorial Sloan Kettering in the United S

SUBMITTER: Chevalier A 

PROVIDER: S-EPMC12395221 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature