Identification of Driver Epistatic Gene Pairs Combining Germline and Somatic Mutations in Cancer.

ABSTRACT: Cancer arises from the complex interplay of various factors. Traditionally, the identification of driver genes focuses primarily on the analysis of somatic mutations. We describe a new method for the detection of driver gene pairs based on an epistasis analysis that considers both germline and somatic variations. Specifically, the identification of significantly mutated gene pairs entails the calculation of a contingency table, wherein one of the co-mutated genes can exhibit a germline variant. By adopting this approach, it is possible to select gene pairs in which the individual genes do not exhibit significant associations with cancer. Finally, a survival analysis is used to select clinically relevant gene pairs. To test the efficacy of the new algorithm, we analyzed the colon adenocarci

SUBMITTER: Rocha J 

PROVIDER: S-EPMC10253732 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature