Approaches to integrating germline and tumor genomic data in cancer research.

ABSTRACT: Cancer is characterized by a diversity of genetic and epigenetic alterations occurring in both the germline and somatic (tumor) genomes. Hundreds of germline variants associated with cancer risk have been identified, and large amounts of data identifying mutations in the tumor genome that participate in tumorigenesis have been generated. Increasingly, these two genomes are being explored jointly to better understand how cancer risk alleles contribute to carcinogenesis and whether they influence development of specific tumor types or mutation profiles. To understand how data from germline risk studies and tumor genome profiling is being integrated, we reviewed 160 articles describing research that incorporated data from both genomes, published between January 2009 and December 2012, and sum

SUBMITTER: Feigelson HS 

PROVIDER: S-EPMC4178473 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature