What Causes Cancer in Children

What Causes Cancer in Children

An overview of how genetic testing can mitigate risk for pediatric cancer.

Written by Maria Katz, MS, CGC
Reviewed by Xiaoli Du, PhD, FACMG, DABMGG, CGC,CGMBS

Dr. Du is an American Board of Medical Genetics and Genomics (ABMGG) certified geneticist. With a passion for precision medicine, she leverages cutting-edge molecular genetics and cytogenetics technology to improve outcomes for individuals affected by genetic conditions. Dr. Du has nine years of clinical genetic diagnosis experience in both the public and private sectors.

Cancer is a disease where the body's cells start to grow and multiply in an uncontrolled way. These abnormal cells can form a mass or tumor, and interfere with the normal functioning of the body. Cancer can occur in any organ but the most common cancers in children are related to the blood, lymphatic and central nervous system6.

According to the World Health Organization, pediatric cancer (under the age of 19) affects ~400,000 children each year. It is estimated that about 15,590 new cases of pediatric cancer will be diagnosed in the United States alone in 2023. The chances of survival for children diagnosed with cancer vary significantly depending on the country in which they reside. In high-income countries, the cure rate for pediatric cancer exceeds 80%, in many low- and middle-income countries the cure rates for pediatric cancer are often less than 30%6.

The development of cancer involves a complex interplay of genetic and environmental factors. While most cases of pediatric cancer occur by chance without a clear hereditary cause, approximately 8-10% of cases are associated with a genetic mutation that an individual was born with that predisposed them to cancer (Akhavanfard et al., 2020; Brodeur et al., 2017; Zhang et al., 2015). 

What is hereditary “genetic” cancer? 

Hereditary cancer refers to cancer cases in an individual that was predisposed to develop cancer because they have a specific mutation in a gene. In hereditary cancer, individuals are born with specific gene mutations that alter the growth and behavior of cells, making them more likely to develop certain types of cancer. It's important to note that not all cancers are hereditary.

~ 10% of pediatric cancer patients were born with a mutation in a gene related to cancer. While some of these children have a family history of cancer, many others do not (Brodeur et al., 2017). Li-Fraumeni Syndrome, for example, is a rare condition caused by changes in a gene called TP53. These changes lead to a higher lifetime risk of developing multiple types of cancers, up to 90% by the age of 70. The most common cancers associated with Li-Fraumeni Syndrome  in children are adrenal cortical carcinoma and soft tissue sarcomas. Li-Fraumeni Syndrome  is typically inherited from a parent, but in some cases, the gene mutation can occur spontaneously in an embryo9.

Can I test my embryo for Cancer?

While it is not possible to test an embryo for cancer, it is possible to screen an embryo for genes related to hereditary cancer and therefore an increased predisposition to cancer.

If you have a known hereditary cancer condition in your family, Orchid can screen your embryos directly. If you have a strong family history of cancer but no one in your family has had genetic testing themselves, it is recommended that you discuss your family history with a genetic counselor.

However, regardless of family history, some genetic errors occur by chance in an embryo. Orchid screens embryos for targeted genes related to increased predisposition to pediatric cancer.

Some of the most common pediatric cancers that Orchid screens for are:

  • Retinoblastoma. The most common eye cancer in children, usually diagnosed before the age of 5. ~40% of retinoblastomas are hereditary, caused by mutations in the RB1 gene, and are also associated with other cancers like osteosarcomas and melanoma.
  • Adrenocortical carcinomas (ACC). Rare malignant tumors that develop in the cortex (outer layer) of the adrenal glands.~50% of ACC’s are hereditary. Li-fraumeni syndrome is often associated with ACC. 
  • Wilms tumor. The most common childhood renal cancer, usually diagnosed before the age of 4. >10% of Wilms Tumor are hereditary. Orchid screens for the gene most commonly linked to Wilms Tumor, WT1.
  • Central nervous system (CNS) tumors. ~8% of all pediatric CNS tumors are hereditary.  Several genes are associated with pediatric CNS tumors such as TP53 (Li-fraumeni syndrome), APC (Turcot syndrome), NF1 (Neurofibromatosis Type 1), and VHL (Von Hippel-Lindau).

Can Genetic Testing Eliminate Pediatric Cancer?

No. While genetic testing is a powerful tool, it is essential to note that not all cases of pediatric cancer can be eliminated through genetic testing alone. Pediatric cancers typically occur sporadically, without an identifiable genetic cause.
However, only through Orchid’s embryo screening can you reduce risk of several common hereditary cancer conditions that can cause pediatric cancer.


  1. Akhavanfard, S., Padmanabhan, R., Yehia, L., Cheng, F., & Eng, C. (2020). Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors. Nature communications, 11(1), 2206. https://doi.org/10.1038/s41467-020-16067-1
  2. Brodeur, G. M., Nichols, K. E., Plon, S. E., Schiffman, J. D., & Malkin, D. (2017). Pediatric Cancer Predisposition and Surveillance: An Overview, and a Tribute to Alfred G. Knudson Jr. Clinical cancer research : an official journal of the American Association for Cancer Research, 23(11), e1–e5.
  3. Clinical Domain Working Groups. Retrieved from: https://clinicalgenome.org/working-groups/clinical-domain/
  4. Coury, S. A., Schneider, K. A., Schienda, J., & Tan, W. H. (2018). Recognizing and Managing Children with a Pediatric Cancer Predisposition Syndrome: A Guide for the Pediatrician. Pediatric annals, 47(5), e204–e216. https://doi.org/10.3928/19382359-20180424-02
  5. Frühwald, M. C., & Rutkowski, S. (2011). Tumors of the central nervous system in children and adolescents. Deutsches Arzteblatt international, 108(22), 390–397. https://doi.org/10.3238/arztebl.2011.0390
  6. Lam, C. G., Howard, S. C., Bouffet, E., & Pritchard-Jones, K. (2019). Science and health for all children with cancer. Science (New York, N.Y.), 363(6432), 1182–1186. https://doi.org/10.1126/science.aaw4892
  7. Mahamdallie, S., Yost, S., Poyastro-Pearson, E., Holt, E., Zachariou, A., Seal, S., Elliott, A., Clarke, M., Warren-Perry, M., Hanks, S., Anderson, J., Bomken, S., Cole, T., Farah, R., Furtwaengler, R., Glaser, A., Grundy, R., Hayden, J., Lowis, S., Millot, F., … Rahman, N. (2019). Identification of new Wilms tumour predisposition genes: an exome sequencing study. The Lancet. Child & adolescent health, 3(5), 322–331. https://doi.org/10.1016/S2352-4642(19)30018-5
  8. Pruteanu, D. P., Olteanu, D. E., Cosnarovici, R., Mihut, E., & Nagy, V. (2020). Genetic predisposition in pediatric oncology. Medicine and pharmacy reports, 93(4), 323–334. https://doi.org/10.15386/mpr-1576
  9. Renaux-Petel, M., Charbonnier, F., Théry, J. C., Fermey, P., Lienard, G., Bou, J., Coutant, S., Vezain, M., Kasper, E., Fourneaux, S., Manase, S., Blanluet, M., Leheup, B., Mansuy, L., Champigneulle, J., Chappé, C., Longy, M., Sévenet, N., Paillerets, B. B., Guerrini-Rousseau, L., … Bougeard, G. (2018). Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome. Journal of medical genetics, 55(3), 173–180. https://doi.org/10.1136/jmedgenet-2017-104976
  10. Zhang, J., Walsh, M. F., Wu, G., Edmonson, M. N., Gruber, T. A., Easton, J., Hedges, D., Ma, X., Zhou, X., Yergeau, D. A., Wilkinson, M. R., Vadodaria, B., Chen, X., McGee, R. B., Hines-Dowell, S., Nuccio, R., Quinn, E., Shurtleff, S. A., Rusch, M., Patel, A., … Downing, J. R. (2015). Germline Mutations in Predisposition Genes in Pediatric Cancer. The New England journal of medicine, 373(24), 2336–2346. https://doi.org/10.1056/NEJMoa1508054

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