ArticlePloS one2016
Autism Linked to Increased Oncogene Mutations but Decreased Cancer Rate.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- Transcriptomic metaanalyses of autistic brains reveals shared gene expression and biological pathway abnormalities with cancer.Molecular autism · 2019Pooled it
- Functional Profiling ofCirculation. Genomic and precision medicine · 2025Article
- Unveiling complex patterns: An information-theoretic approach to high-order behaviors in microarray data.PloS one · 2025Article
- Neurodevelopmental disorders and cancer networks share pathways, but differ in mechanisms, signaling strength, and outcome.NPJ genomic medicine · 2023Article
- Neurodevelopmental disorders and cancer networks share pathways; but differ in mechanisms, signaling strength, and outcome.bioRxiv : the preprint server for biology · 2023Article
- Article
- Quality of Life, Neurosensory Disorders and Co-Occurring Medical Conditions in Individuals on the Spectrum, with a Special Focus on Females Diagnosed with Autism: A Systematic Review.Journal of clinical medicine · 2023Review
- Blood RNA Sequencing Indicates UpregulatedInternational journal of molecular sciences · 2022Article
- Stem Cell Theory of Cancer: Implications for Translational Research from Bedside to Bench.Cancers · 2022Article
- PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation.Molecular genetics and metabolism · 2022Article
- Increased prevalence of non-communicable physical health conditions among autistic adults.Autism : the international journal of research and practice · 2021Article
- De novo mutation of cancer-related genes associates with particular neurodevelopmental disorders.Journal of molecular medicine (Berlin, Germany) · 2020Article
- The putative etiology and prevention of autism.Progress in molecular biology and translational science · 2020Review
- GeneAnalytics Pathways and Profiling of Shared Autism and Cancer Genes.International journal of molecular sciences · 2019Article
- Autism spectrum disorder and Li-Fraumeni syndrome: purely coincidental or mechanistically associated?Molecular and cellular pediatrics · 2017Article
- Deep Genetic Connection Between Cancer and Developmental Disorders.Human mutation · 2016Article
- Genetic Syndromes, Maternal Diseases and Antenatal Factors Associated with Autism Spectrum Disorders (ASD).Frontiers in neuroscience · 2016Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
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<1.0 x 10(-8)). In contrast, variants were not significantly enriched in tumor suppressor genes. Phenotypically, children and adults with ASD exhibited a protective effect against cancer, with a frequency of 1.3% vs. 3.9% (p<0.001), but the protective effect decreased with age. The odds ratio of neoplasm for those with ASD relative to controls was 0.06 (95% CI: 0.02, 0.19; p<0.0001) in the 0 to 14 age group; 0.35 (95% CI: 0.14, 0.87; p = 0.024) in the 15 to 29 age group; 0.41 (95% CI: 0.15, 1.17; p = 0.095) in the 30 to 54 age group; and 0.49 (95% CI: 0.14, 1.74; p = 0.267) in those 55 and older. Both males and females demonstrated the protective effect. These findings suggest that defects in cellular proliferation, and potentially senescence, might influence both autism and neoplasm, and already approved drugs targeting oncogenic pathways might also have therapeutic value for treating autism.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.