Tumor somatic mutations also existing as germline polymorphisms may help to identify functional SNPs from genome-wide association studies.

ABSTRACT: We hypothesized that a joint analysis of cancer risk-associated single-nucleotide polymorphism (SNP) and somatic mutations in tumor samples can predict functional and potentially causal SNPs from GWASs. We used mutations reported in the Catalog of Somatic Mutations in Cancer (COSMIC). Confirmed somatic mutations were subdivided into two groups: (1) mutations reported as SNPs, which we call mutational/SNPs and (2) somatic mutations that are not reported as SNPs, which we call mutational/noSNPs. It is generally accepted that the number of times a somatic mutation is reported in COSMIC correlates with its selective advantage to tumors, with more frequently reported mutations being more functional and providing a stronger selective advantage to the tumor cell. We found that mutations reported

SUBMITTER: Gorlov IP 

PROVIDER: S-EPMC7566444 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature