Skip to content Skip to navigation

Autism Linked to Increased Oncogene Mutations but Decreased Cancer Rate.

TitleAutism Linked to Increased Oncogene Mutations but Decreased Cancer Rate.
Publication TypeJournal Article
Year of Publication2016
AuthorsDarbro, Benjamin W., Singh Rohini, M Zimmerman Bridget, Mahajan Vinit B., and Bassuk Alexander G.
JournalPLoS One
Date Published2016
KeywordsAdolescent, Adult, Autism Spectrum Disorder, Child, Child, Preschool, Female, Genes, Tumor Suppressor, Genetic Predisposition to Disease, Humans, Infant, Male, Middle Aged, Mutation, Neoplasms, Oncogenes, Prevalence, Young Adult

Autism spectrum disorder (ASD) is one phenotypic aspect of many monogenic, hereditary cancer syndromes. Pleiotropic effects of cancer genes on the autism phenotype could lead to repurposing of oncology medications to treat this increasingly prevalent neurodevelopmental condition for which there is currently no treatment. To explore this hypothesis we sought to discover whether autistic patients more often have rare coding, single-nucleotide variants within tumor suppressor and oncogenes and whether autistic patients are more often diagnosed with neoplasms. Exome-sequencing data from the ARRA Autism Sequencing Collaboration was compared to that of a control cohort from the Exome Variant Server database revealing that rare, coding variants within oncogenes were enriched for in the ARRA ASD cohort (p

Alternate JournalPLoS ONE
PubMed ID26934580
PubMed Central IDPMC4774916
Grant ListT32 HL080070-01 / HL / NHLBI NIH HHS / United States