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• W2146347330 abstract "BACKGROUND: Specific hereditary cancer syndromes and syndromic neurodevelopmental disorders are known to have overlap in causative genes. Well known examples include mutations within PTEN, TSC1/2, and NF1, which can lead to either hereditary cancer syndromes and/or neurodevelopmental disorders. With the advent of next generation sequencing, thousands of genomes have been sequenced from patients with cancer or neurodevelopmental disorders. Anecdotal reports have suggested there may be greater overlap than previously appreciated between genes involved in cancer development and neurodevelopmental disorders, specifically autism spectrum disorder (ASD). Our observations from exome sequencing of both patients with autism, as well as various tumors, suggest several of the same genes may be contributing to both conditions. HYPOTHESIS: There is a statistically significant association between neurodevelopmental disorders and cancer at the genetic and phenotypic level. METHODS: We examined for enrichment of rare, functional DNA variants in established cancer genes within exome sequencing data of patients with ASD as well as the Exome Variant Server (EVS) database. We also conducted an EMR-based epidemiologic analysis of patients with autistic disorder and rates of cancer, comparing them to 5x the control patients matched by age and gender. RESULTS: We found statistically significant differences in the enrichment of variants in tumor suppressor genes and oncogenes of patients with ASD. Paradoxically, we found a significantly lower rate of neoplasms in patients with autistic disorder compared to controls. Furthermore, almost half of the neoplasms in ASD patients were benign. CONCLUSIONS: The discovery of an underlying genetic relationship between cancer and neurodevelopmental conditions such as ASD can be tremendously impactful. Targeted therapeutics previously developed for neoplastic conditions could benefit patients with neurodevelopmental disorders. Further study of patients with ASD who do not develop cancer may provide important clues about compensatory anti-tumor cellular mechanisms that could lead to new cancer therapies for all patients." @default.
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• W2146347330 date "2015-04-23" @default.
• W2146347330 modified "2023-09-25" @default.
• W2146347330 title "GE-02 * PARADOXICAL GENETIC AND EPIDEMIOLOGIC RELATIONSHIPS BETWEEN CANCER AND AUTISM" @default.
• W2146347330 doi "https://doi.org/10.1093/neuonc/nov061.26" @default.
• W2146347330 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4482962" @default.
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