| Literature DB >> 31128889 |
Johnny R Ramroop1, Madelyn M Gerber2, Amanda Ewart Toland3.
Abstract
Cancer is characterized by diverse genetic alterations in both germline and somatic genomes that disrupt normal biology and provide a selective advantage to cells during tumorigenesis. Germline and somatic genomes have been extensively studied independently, leading to numerous biological insights. Analyses integrating data from both genomes have identified genetic variants impacting somatic events in tumors, including hotspot driver mutations. Interactions among specific germline variants and somatic events influence cancer subtypes, treatment response, and clinical outcomes. Investigation of these complex interactions is increasing our understanding of aberrant pathways in tumors that may uncover novel therapeutic targets. Here, we review the literature describing the role of germline genetic variants in promoting the selection and generation of specific mutations during tumorigenesis.Entities:
Keywords: GWAS; allele-specific imbalance; germline variant; pathogenic variant; somatic mutation
Mesh：
Year: 2019 PMID： 31128889 PMCID： PMC6571050 DOI： 10.1016/j.tig.2019.04.005
Source DB: PubMed Journal: Trends Genet ISSN： 0168-9525 Impact factor: 11.639