What’s Autism Got to Do with It?

What does autism have to do with hereditary cancer? In most cases, nothing. But in honor of Autism Awareness Month we want to highlight the connection between mutations in a gene called PTEN and an increased likelihood of both cancer and autism spectrum disorder in families that carry these mutations.

Mutations in the PTEN gene can cause several syndromes, collectively known as the PTEN Hamaratoma Syndrome. This grouping includes some rare syndromes such as: Cowden Syndrome, Bannayan–Riley–Ruvalcaba Syndrome, and Proteus and Proteus-like syndromes. Each syndrome is different and there can be overlap between syndromes within a single person carrying a PTEN mutation, or between family members who all carry the same PTEN mutation. Those with Cowden syndrome are at increased risk to develop certain cancers, including breast, thyroid and uterine cancers. Autism spectrum disorder and macrocephaly (large head circumference) have been reported in people with PTEN mutations as well.

What is the take-home message here? A detailed personal and family history should include not only the cancers in your family, but also the presence of non-cancerous physical and developmental findings, like macrocephaly and autism spectrum disorder. Meeting with a genetic counselor to scope out your entire personal and family history will increase the likelihood that the right genetic test is ordered for your family.

Photo by Tatiana Vdb, via Flickr