Is cancer of the appendix genetic? Photograph of appendix cancer microscope slide. 200×200 A recent study in JAMA Oncology revealed that around 10% of individuals diagnosed with appendiceal cancer have an inherited genetic variant that increases their risk for cancer predisposition. This is the first study to identify inherited risk factors for this uncommon type of cancer.[/caption]
A question we see in our support groups and worries those of us with children is whether appendix cancer is hereditary or a predisposition to developing appendix cancer is hereditary.
Around 10% of individuals diagnosed with appendiceal cancer have an inherited genetic variant that increases their risk for cancer predisposition, according to a study in JAMA Oncology. This is the first study to show inherited risk factors for this rare cancer.
Certain genetic syndromes are associated with a higher risk of appendiceal cancer, suggesting a possible genetic component. For example, people with Lynch syndrome (hereditary nonpolyposis colorectal cancer) have a 2-12% lifetime risk of appendiceal cancer. But these syndromes still only explain a minority of cases.
Appendiceal cancers are rare tumours, accounting for less than 1% of all gastrointestinal cancers. This suggests that genetic mutations alone may not be sufficient to cause appendiceal cancer in most cases. Environmental or other non-genetic factors likely also play a role.
So, while genetic factors like syndromes, mutations and variants may play some role in appendiceal cancer development and a minority of cases could be considered genetic in nature, there is no evidence that appendiceal cancer is primarily a genetic cancer. Environmental influences and non-genetic mechanisms likely also contribute substantially to risk and the development of cancerous cells. More research is still needed to fully understand the complex causes or origins of these rare tumours.
More of our frequently asked questions
What is HIPEC surgery?
HIPEC is a cancer treatment that involves surgery and heated chemotherapy. It’s used for advanced abdominal cancers like pseudomyxoma peritonei.
Will exercising cause pseudomyxoma peritonei (PMP) to spread?
Engaging in exercise is generally beneficial for overall health and well-being, even for individuals with pseudomyxoma peritonei (PMP). Exercise can help improve cardiovascular fitness, strengthen muscles, boost immune function, enhance mood, and promote a sense of...
Why is HIPEC controversial?
Some doctors still view HIPEC (hyperthermic intraperitoneal chemotherapy) as a controversial procedure for multiple reasons.
Inherited Cancer Susceptibility Gene Sequence Variations Among Patients With Appendix Cancer
Holowatyj AN, Washington MK, Tavtigian SV, Eng C, Horton C. Inherited Cancer Susceptibility Gene Sequence Variations Among Patients With Appendix Cancer. JAMA Oncol. 2023;9(1):95–101. doi:10.1001/jamaoncol.2022.5425
Primary appendiceal mucinous adenocarcinoma in two first-degree relatives...
Racek AR, Rabe KG, Wick MJ, Psychogios A, Lindor NM. Primary appendiceal mucinous adenocarcinoma in two first-degree relatives: Case report and review. Hereditary Cancer in Clinical Practice. 2011;9(1). doi:10.1186/1897-4287-9-1
Written by: Pseudomyxoma Survivor editorial team
Updated: May 7, 2023