Number of Appendiceal Cancer Patients Harbor Cancer Predisposition Gene Variants

A portion of appendiceal cancer patients harbor germline cancer predisposition variants, suggesting that patients presenting with the disease should undergo testing for hereditary cancer, a study appearing in JAMA Oncology says. Researchers from Vanderbilt University Medical Center, Ambry Genetics, and elsewhere tested 131 appendiceal cancer patients for germline variants in 14 cancer susceptibility genes to find that 15 patients, or 11.5 percent, had a deleterious variant. The researchers additionally found that about 3 percent of their appendiceal cancer patient cohort had Lynch syndrome, all of whom had MLH1 gene variants. Further, of those with a deleterious variant, 60 percent were over the age of 50 at appendiceal cancer diagnosis. "Taken together, these findings support the consideration of genetic testing for all patients with appendix cancer irrespective of age or family history," the researchers write, adding that the "consideration of a more systemic sequencing effort for all patients with appendiceal cancer may provide important evidence toward tailoring genes selected for germline genetic testing for appendiceal cancer across specific patient groups."