Gastrointestinal stromal tumors: a case-only analysis of single nucleotide polymorphisms and somatic mutations.

ABSTRACT:

Background

Gastrointestinal stromal tumors are rare soft tissue sarcomas that typically develop from mesenchymal cells with acquired gain-in-function mutations in KIT or PDGFRA oncogenes. These somatic mutations have been well-characterized, but little is known about inherited genetic risk factors. Given evidence that certain susceptibility loci and carcinogens are associated with characteristic mutations in other cancers, we hypothesized that these signature KIT or PDGFRA mutations may be similarly fundamental to understanding gastrointestinal stromal tumor etiology. Therefore, we examined associations between 522 single nucleotide polymorphisms and seven KIT or PDGFRA tumor mutations types. Candidate pathways included dioxin response, toxin metabolism, matrix metalloproteinase pr

SUBMITTER: O'Brien KM 

PROVIDER: S-EPMC3827940 | biostudies-literature | 2013 Oct

REPOSITORIES: biostudies-literature