Cells throughout the body carry genes called CDKN2A and CDKN2B. These genes make proteins that guard the body’s DNA and prevent cancer. They do this by identifying and stopping cancer cells when they start. These genes can activate and stabilize certain cancer-fighting genes. They can also program a bad cell to die. The proteins are called tumor suppressor proteins.
CDKN2A is a commonly mutated tumor suppressor gene.
When one or both of the CDKN2 genes mutate, the protein they produce malfunctions and it can’t guard the genome. This can lead to an environment where cancer forms and spreads because the protein that usually stops damaged cells from multiplying is broken.
This mutation can be inherited, but usually in GI cancers, the mutation is caused by long-term cellular imbalance, inflammation, and external factors. Sometimes, there is no known cause for why CDKN2 mutates.
Biomarker testing can be run on tumor or blood samples to determine if there’s a mutation in the CDKN2A/B genes.
Currently, there are not any FDA-approved therapies for patients with a GI cancer and a CDKN2A/B mutation, however there are several ongoing clinical trials for patients showing dysfunction in either CDKN2A or CDKN2B.
Ask your doctor how your biomarker test results are informing your treatment plan and if you qualify for any clinical trials.
