The Gastric Cancer Registry: A Genomic Translational Resource for Multidisciplinary Research in Stomach Malignancies

Abstract

Background: Gastric cancer (GC) is a leading cause of global cancer morbidity and mortality. Developing information systems which integrate clinical and genomic data may accelerate discoveries to improve cancer prevention, detection, and treatment. To support translational research in GC, we developed the GC Registry (GCR), a North American repository of clinical and cancer genomics data. Methods: GCR is a national registry with online self-enrollment. Entry criteria into the GCR included the following: (1) diagnosis of GC, (2) history of GC in a first- or second-degree family member or (3) known pathogenic or likely pathogenic germline mutation in the gene CDH1. Participants provided demographic and clinical information through a detailed (412-item) online survey. A subset of participants provided specimens of saliva and tumor samples. These tumor samples underwent exome sequencing, whole genome sequencing and transcriptome sequencing. Results: From 2011-2021, 567 individuals registered for the GCR and returned the clinical questionnaire. For this cohort 65% had a personal history of GC, 36% reported a family history of GC and 14% had a germline CDH1 mutation. Eighty-nine GC patients provided tumor tissue samples. For the initial pilot study, 41 tumors were sequenced using next generation sequencing. The data was analyzed for cancer mutations, copy number variations, gene expression, microbiome presence, neoantigens, immune infiltrates, and other features. We developed a searchable, web-based interface (the GCR Genome Explorer) to enable researchers access to these datasets. Conclusions: The GCR is a unique, North American GC registry which integrates both clinical and genomic annotation. Impact: Available for researchers through an open access, web-based explorer, we hope the GCR Genome Explorer accelerates collaborative GC research across the United States.