Genetics of Appendix Cancer: The GAP Study

What this Trial Is About

Researchers are investigating genetic differences that might contribute to the development of appendix cancer in adults aged 18 years and older. The Genetics of Appendix Cancer (GAP) Study focuses on hereditary factors, tumor characteristics, and clinical outcomes among patients diagnosed with appendix cancer and their biological parents. This prospective cohort study aims to better understand the genetic landscape of appendix cancer through detailed biospecimen and data collection. The study includes adults diagnosed with appendix cancer from the United States, patients seen at Vanderbilt, and the biological parents of these patients. Participants undergo genetic profiling using whole exome sequencing and retrospective collection of archived tumor tissues. Patients can join the study at any time after diagnosis and will be followed for up to six years to monitor genetic and clinical features. Participants will provide biospecimens and clinical data over the study period, allowing researchers to assess genetic variants and their associations with tumor and clinical characteristics. The main outcome measured is the prevalence and types of harmful germline genetic variants in patients and their parents. Secondary outcomes include links between genetic variants and tumor features. The study involves questionnaires and consent discussions, with no intervention treatments. Participants may be followed for up to six years to collect ongoing data.

Genetics of Appendix Cancer Study