Association between Autism Spectrum Disorder and Cancer - a Review from the Literature

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autism spectrum disorder, cancer, genetics, prevention, treatment


Introduction: Autism spectrum disorder (ASD) is neurodevelopmental polygenic disorder with strong genetic component. In adult period, it is associated with many chronic diseases including diabetes, hypertension, cardiovascular disease, and cancer.

The aim of this article is to show possible connection between autism spectrum disorder and some kinds of cancers, and to show possible pathways for prevention and treatment.

Methodology: The PubMed and Google Scholar databases were searched using the keywords: autism spectrum disorder, genetics, cancer, prevention and treatment.

Results: Autism spectrum disorder is associated with high rates of genomic aberrations, including chromosomal rearrangements and de novo copy-number variations. Autism and cancer share 43 risk genes, suggesting that common mechanisms underlying the functions of some of these genes could conceivably be leveraged to develop therapies not just for cancer but for autism as well. Pleiotropy, whereby gene variants exert effects on multiple phenotypes, has been the source of increasing research attention with ASD and cancer.

Germline loss-of-function PTEN mutations increase the rate of benign and malignant tumors and also manifest as ASD and macrocephaly. Mutations in TSC1 and TSC2 genes cause tuberous sclerosis complex which is characterized by cortical tubers, and neurocognitive phenotypes including epilepsy, ASD, and intellectual disability (ID).

Conclusion: There is may be an association between autism and specific forms of cancer. Further epidemiologic research in large populations is needed to elucidate the association between autism and cancer and identify explanatory factors. Approved drugs targeting oncogenic pathways might also have therapeutic value for treating autism spectrum disorder.


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Author Biography

Vladimir Trajkovski, Institute of Special Education and Rehabilitation, Faculty of Philosophy, University “Ss. Cyril and Methodius, Skopje, Macedonia

Dr. Vladimir Trajkovski is a full professor at the Institute of Special Education and Rehabilitation, Faculty of Philosophy at the University "St. Cyril and Methodius” in Skopje, Macedonia. He is the president and one of the founders of the Macedonian Scientific Association for Autism (MSSA) ( For 23 years his preoccupation has been the autistic spectrum disorders. From 2008-2017 he was the editor-in-chief of the Journal of Special Education and Rehabilitation, and since April 2018 he has been the editor-in-chief of the international Journal for ReAttach Therapy and Developmental Diversity ( In 2004 he introduced the subject "Autism" to the postgraduate studies at the Faculty of Philosophy.

He participates in more than 120 seminars, congresses, symposia and conferences in the country and abroad. In the last 2 pandemic years, he organizes and teaches at about 30 webinars organized by the MSSA. Actively participates in the preparation and implementation of 19 professional-scientific national and international projects. He has made study visits to nine European countries. He is the author of 8 textbooks, practicums and monographs, 110 papers in domestic and foreign periodicals, 13 of which are in journals with an impact factor.

He is currently a visiting professor at the Alma Mater Europa University in Slovenia, a member of the Macedonian Society for Human Genetics, a member of the editorial boards of 5 international journals, and also contributes to the work of various bodies of international associations and societies (Autism Europe, EASPD, IASSID) that treat autism, intellectual disability and disability.

He is winner of the award for the best scientist at Ss. Cyril and Methodius University in Skopje in the field of biomedical and health sciences for 2017.


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How to Cite

Trajkovski, V. (2024). Association between Autism Spectrum Disorder and Cancer - a Review from the Literature. Journal of Health and Rehabilitation Sciences, 3(1), 1–7.



Autism Research