Link Between Autism and Cancer Discovered

A new study finds that patients diagnosed with autism spectrum disorder (ASD) have more mutations in cancer-promoting oncogenes, but also have lower rates of cancer.

Researchers used exome sequencing data from the AARA Autism Sequencing Collaboration and compared it with a control group from the Exome Variant Server database.

For a study published in PLOS ONE, researchers found that variants did not have a significantly elevated amount of tumor suppressing genes.

Researchers discovered that patients with autism had numerous DNA variations in genes associated with autism, epilepsy, and intellectual disabilities compared with the control cohort.

There were no differences between the 2 groups in regards to other genes related to conditions such as skeletal dysplasia, retinitis pigmentosa, dilated cardiomyopathy, and non-syndromic hearing loss.

Researchers then conducted a retrospective case-control analysis that compared 1837 patients with ASD and 9336 patients with any other diagnosis to determine how many patients from each group received a cancer diagnosis.

Data was taken from electronic medical records from UI Hospitals and Clinics. Of the patients with ASD, 1.3% also had a diagnosis of cancer. Of the control patients, 3.9% had a diagnosis of cancer.

Patients with ASD under the age of 14 saw a decrease in the likelihood of cancer diagnosis by 94%. Researchers describe these results as patients with ASD having a “protective effect.”

Researchers also ran the data through stringent control analyses, in which the genetic variations associated with other diseases were examined.

"The overlap in genes between those known to promote cancer and those implicated in syndromic neurodevelopmental disorders is not new, but what we've shown is that this overlap is much broader at the genetic level than previously known and that somehow it may translate into a lower risk of cancer," Benjamin Darbro, MD, PhD, said in a press release.

Researchers wonder if genetic variants that seem to protect against cancer could be used to develop new anti-cancer treatments, or if current cancer drugs that target genetic pathways that overlap with ASD be a potential treatment for ASD.