Link between Autism and Cancer Discovered

By United States: National Institutes of Health [Public domain], via Wikimedia Commons

People who have autism have a higher risk of gene mutations that drive cancer, but actually have lower cancer rates. Although individuals who have been diagnosed with autism spectrum disorder have a higher burden of cell mutations in cancer-promoting oncogenes, they have lower rates of cancer.

The Study

A group of researchers from the University of Iowa, led by Benjamin Darbro, MD and assistant professor of medical genetics in the Stead Family Department of Pediatrics, analyzed large, publicly available genomic databases of people with autism. It was found that when compared to a control set, autistic individuals have a significantly higher rate of DNA variations in oncogenes. The team followed up this result by studying patient records from the University of Iowa Hospital. They discovered that patients with an autism diagnosis are also significantly less likely to have a co-occurring diagnosis of cancer.

Dr. Darbro says, “It’s very provocative result that makes sense on one level and it is extremely perplexing on another.”

The results of the study were published in a recent edition of the journal PLOS ONE.

Darbro and his team used exome sequencing information from the ARRA Autism Sequencing Collaboration and compared it to a control cohort from the Exome Variant Server database. They found that uncommon, coding variants within oncogenes were highly augmented in the ARRA ASD cohort. By comparison, the variants were not significantly enriched in tumor suppressor genes.

To ensure that the genetic differences were not simply technical artifacts, but actually genuine differences in genetic architecture in autism, the researchers ran countless controls.

As was expected, they found that people with autism had a lot more DNA variations in genes previously associated with the disorder and intellectual disability compared to control subjects. There was no difference between autism and control groups when they examined genes involved in other, unrelated conditions such as non-syndromic hearing loss, skeletal dysplasia, dilated cardiomyopathy and retinitis pigmentosa.

Autism is a general term for a group of disorders that affect brain development. The disorder is categorized by impairment of social interaction, verbal and nonverbal communication skills and repetitive behaviors. As Dr. Darbro notes, autism is also one symptom of many inherited cancer syndromes caused by mutations in a single cell gene.


The findings of the study raises questions that may have implications for new ways of treating both autism spectrum disorder and cancer. For example, could the genetic variants that seem to provide protection against cancer in people with autism, be exploited to develop new cancer treatments?

Or could current cancer medications that target the genetic paths found to overlap with autism also be useful for treating autism? More research is needed in order to determine how medical science can utilize this new information and how to culminate new, better treatment options for autism and cancer.

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