As many as 1 in 10 patients with appendix cancer may carry an inherited gene sequence variation associated with cancer susceptibility, according to research published in JAMA Oncology

“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,” the researchers wrote.

The researchers analyzed 131 patients with appendix cancer who underwent germline genetic testing of 14 cancer susceptibility genes. 

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Results revealed 16 deleterious sequence variations in 15 patients (11.5%). Six patients had a deleterious sequence variation in MUTYH, all 4 patients with Lynch syndrome had a variation in MLH1, 2 patients had a variation in CHEK2, 1 had a variation in APC, 1 had a variation in SMAD4, and 1 had a variation in TP53

When the researchers analyzed the 74 patients for whom appendix cancer was the first and only primary tumor, 8 patients (10.8%) had at least 1 deleterious sequence variation in a cancer susceptibility gene. 

“Given the high frequency and broad spectrum of germline gene sequence variations, these data suggest that genetic evaluation might be warranted for all patients diagnosed with this rare malignant tumor,” the researchers wrote. “A systemic sequencing effort for all patients with AC [appendix cancer] may also identify cancer vulnerabilities to exploit for therapeutic development in a cancer type for which clinical trials are limited.”

Disclosures: Some study authors declared affiliations with biotech, pharmaceutical, and/or device companies. Please see the original reference for a full list of disclosures.


Holowatyj AN, Washington MK, Tavtigian SV, Eng C, Horton C. Inherited cancer susceptibility gene sequence variations among patients with appendix cancer. JAMA Oncol. Published online November 11, 2022. doi:10.1001/jamaoncol.2022.5425