Inherited Cancer Susceptibility Gene Sequence Variations Among Patients With Appendix Cancer

Dr. Holowatyj recently led a study that discovered the first genetic link to appendix cancer. "In this cohort study of 131 patients with appendix cancer who underwent clinical multigene panel testing, 11.5% harbored a pathogenic sequence variation. Among 74 patients with appendix cancer as the first and only primary tumor, a similar proportion (10.8%) carried a pathogenic sequence variation." The findings suggest that appendiceal cancer may be a previously underrecognized indication for hereditary cancer genetic testing (or a hereditary cancer syndrome) and that genetic evaluation should be considered for all patients with appendix cancer.