CDH1 Germline Mutations in the Prevalence of Gastric Cancer in Historically Underrepresented Racial and Ethnic Groups in Healthcare
Abstract
Gastric cancer (GC) is a disease that has high incidence and mortality for Hispanic Americans at disproportionate levels. Previous studies have indicated that Hispanic gastric cancer patients may have high frequencies of CDH1 germline mutations affecting cell adherence and contact inhibition protein expression. The All of Us (AoU) Research Program is a National Institutes of Health initative to develop a million-patient cohort of Americans from all racial and ethnic backgrounds to further precision medicine. In this thesis, the AoU Whole Genome Sequencing (WGS) dataset was utilized to assess the frequency and pathogenicity of CDH1 mutations in both Hispanic and non-Hispanic gastric cancer patients and determine the presence of a different mutational landscape within their CDH1 genes.