Mutually exclusive mutation profiles define functionally related genes in muscle invasive bladder cancer.

ABSTRACT: Muscle Invasive bladder cancer is known to have an abundance of mutations, particularly in DNA damage response and chromatin modification genes. The role of these mutations in the development and progression of the disease is not well understood. However, a mutually exclusive mutation pattern between gene pairs could suggest gene mutations of significance. For example, a mutually exclusive mutation pattern could suggest an epistatic relationship where the outcome of a mutation in one gene would have the same outcome as a mutation in a different gene. The significance of a mutually exclusive relationship was determined by establishing a normal distribution of the conditional probabilities for having a mutation in one gene and not the other as well as the reverse relationship for each gene p

SUBMITTER: Sangster AG 

PROVIDER: S-EPMC8786205 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature