Genetics of Appendix Cancer Study

Appendix cancer is a rare malignancy that most people have never heard of — but for the roughly 3,000 Americans diagnosed each year, it can be a life-altering and frightening diagnosis. Because it is so rare, genetic research on appendix cancer has been extremely limited, leaving patients with fewer treatment options informed by evidence. The Genetics of Appendix Cancer (GAP) Study is a national research effort to collect genetic material, clinical data, and family histories from patients with appendix cancer and their biological parents to identify the inherited and spontaneous genetic changes that drive this disease. The study has multiple enrollment pathways: U.S. residents with a known appendix cancer diagnosis who can consent and participate, patients diagnosed at or consulting with a participating physician, and biological parents of enrolled patients. All participants must be mentally and physically able to provide consent and complete study activities. Women who are pregnant at the time of consent, prisoners, and those unable to communicate in English are excluded. Participants will provide biological samples (typically blood or saliva) and complete questionnaires about their medical and family history. No experimental treatment is involved. This research is vital because understanding the genetic landscape of appendix cancer could reveal druggable targets for new treatments, identify families at elevated risk who could benefit from surveillance, and establish whether appendix cancer shares genetic drivers with other more common cancers where effective targeted therapies already exist.