Study shows inherited risk factors for appendicitis

One in 10 patients diagnosed with appendix cancer carries a germline genetic variant linked to a predisposition to cancer, according to a study conducted in gamma tumors This is the first to show inherited risk factors for this rare cancer.

Appendix cancer affects about one to two people per million annually. Historically, appendix cancer was believed to be not hereditary, but its rarity has posed challenges to understanding the characteristics of the disease and developing treatments. A research team led by Andrea Holwateg, MD, MSCI, associate professor of medicine and cancer biology at Vanderbilt University Medical Center, analyzed polygenic panel test data from a nationwide clinical testing lab in the United States for a total of 131 patients with appendix cancer. They found that 11.5% of patients had at least one hereditary type of germline in the cancer susceptibility gene. In addition, among the subgroup of patients with appendicitis as the first and only tumor, they observed a similar prevalence (10.8%), which increased the association of a familial component with this disease.

The results suggest that all patients with appendicial cancer should consider genetic evaluation as well as succession testing and genetic counseling for at-risk family members for cancer prevention and control. However, further studies are warranted to identify new genetic factors and use this evidence to personalize which genes are selected in genetic testing for appendix cancer, Holwati said.

Based on these data, we can recommend genetic counseling and polygenic panel testing for cancer susceptibility genes to all patients with appendicial cancer, regardless of age or family history of cancer. While there is still much to learn from our discovery, we have found the tip of an iceberg -; It could potentially be a really big iceberg.”

Andrea Holwategg, Ph.D., MSCI, Assistant Professor of Medicine and Cancer Biology, Vanderbilt University Medical Center

The study was simultaneously published as Holowatyj presented her findings at the annual meeting of the Americas Collaborative Group on Inherited Gastrointestinal Cancer (CGA-IGC) in Nashville for 2022.

Although appendix cancer is rare, it is becoming more common for unknown reasons. Last year, Holwatigue and colleagues conducted the first study of appendix cancer patterns and survival among patients under 50 (early-onset disease) in the United States, finding worse disease outcomes among non-Hispanic blacks than in non-Hispanic whites, and among men. . compared to women.

This study, which was published in Gastrointestinal Diseases, followed by another investigation led by Holowatyj that compared the molecular landscapes of early and late-onset appendicitis. The second study, published in JAMA Network is openrevealed distinct non-silent mutations in tumors of younger patients, paving the way for the development of potential therapeutic advances.

A third study published in Cancer epidemiology, biomarkers and prevention By Holowatyj . Grouprevealed that one in three cases of appendix cancer occurs in people younger than 50 years of age and that these early cases have clinical features distinct from those that occur in people 50 years of age or older.

Holowatyj and the research team received support from the Dalton Family Foundation, the Eunice Kennedy Shriver National Institute of Child Health and Human Development, and the National Institutes of Health.

Other Vanderbilt researchers who participated in the study were Mary K. Washington, MD, PhD, and Cathy Eng, MD.

Individuals diagnosed with appendicitis and wishing to participate in a clinical research study -; Genetics study of appendix cancer (GAP) -; are invited to visit

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