One among every 10 patients with appendiceal cancer carries a germline genetic variant related to cancer predisposition, in accordance with a study in JAMA Oncology that’s the first to point out inherited risk aspects for this rare cancer.
Appendiceal cancer affects about one or two people per million annually. Historically it has been thought that appendiceal cancer isn’t hereditary, but its rarity has presented challenges for understanding the characteristics of the disease and developing therapies. A research team led by Andreana Holowatyj, PhD, MSCI, assistant professor of Medicine and Cancer Biology at Vanderbilt University Medical Center, analyzed multigene panel testing data from a nationwide clinical testing laboratory within the U.S. for a complete of 131 patients with appendiceal cancer. They found that 11.5% of patients had a minimum of one germline genetic variant in a cancer susceptibility gene. As well as, among the many subset of patients with appendix cancer as the primary and only primary tumor they observed the same prevalence (10.8%), further linking a familial component to this disease.
The findings suggest all patients with appendix cancer should consider genetic evaluation in addition to cascade testing and genetic counseling of at-risk relations for cancer prevention and surveillance. Nonetheless, further studies are warranted to discover novel genetic aspects and use this evidence to tailor which genes are chosen in genetic testing for appendiceal cancer, Holowatyj said.
Based on these data, we’re capable of recommend genetic counseling and multigene panel testing of cancer susceptibility genes for all appendix cancer patients, no matter age or family history of cancer. While there remains to be much to learn from our discovery, we’ve found the tip of an iceberg -; potentially a very big iceberg.”
Andreana Holowatyj, PhD, MSCI, Assistant Professor of Medicine and Cancer Biology, Vanderbilt University Medical Center
The study was published concurrently as Holowatyjpresented its findings on the 2022 Collaborative Group of the Americas Inherited Gastrointestinal Cancer (CGA-IGC) Annual Meeting in Nashville.
Although appendiceal cancer is rare, it’s becoming more common for reasons that usually are not known. Last 12 months, Holowatyj and colleagues conducted the primary study of appendiceal cancer patterns and survival amongst patients younger than 50 (early-onset disease) within the U.S. They found poorer disease outcomes amongst non-Hispanic Blacks in comparison with non-Hispanic whites, and amongst men compared with women.
That study, which was published in Gastroenterology, was followed by one other investigation led by Holowatyj that compared the molecular landscapes of early-onset and late-onset appendiceal cancer. The second study, published in JAMA Network Open, revealed distinct non-silent mutations within the tumors of younger patients, setting the stage for the event of potential therapeutic advances.
A 3rd study, published in Cancer Epidemiology, Biomarkers & Prevention by Holowatyj’s group, revealed that one in every three cases of appendiceal cancer occurs in people under age 50 and that these early-onset cases have distinct clinical features from those who occur in people age 50 and older.
Holowatyj and the research team received support from the Dalton Family Foundation and the Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health.
Other Vanderbilt researchers who’re co-authors on the study are Mary K. Washington, MD, PhD, and Cathy Eng, MD.
Individuals who’ve been diagnosed with appendix cancer and would love to take part in a clinical research study -; the Genetics of Appendix Cancer (GAP) Study -; are invited to go to www.gapcancerstudy.org.
Source:
Vanderbilt University Medical Center