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Cancer genes contribute to congenital disorders

may also be responsible for the development of . This was concluded this week by researchers of the Hubrecht Institute and in the scientific journal Cell Reports.

To gain a better understanding of the causes of congenital disorders, the Utrecht researchers examined the DNA of one hundred children with severe mental and physical disabilities. The cancer genes of nine of these children were found to be severely affected by crude changes in their DNA. In a few cases, those changes caused the cancer genes to become active, which also happens in the development of cancer. Thankfully, this has not resulted in cancer in any of these children as yet.

Unique illness

“The DNA of many children with multiple disabilities displays unique changes, as a result of which every child comes with a unique clinical picture,” explains Dr. Sebastiaan van Heesch, who recently obtained his doctorate with this research and is currently working at the reputable Max Delbrück Center in Berlin. “Understanding the requires time-consuming research for each patient and that is not yet possible in clinical practice.” The published findings are a start to a better understanding of congenital disorders, which is required for treatment that is tailored to the individual patient.

Congenital handicaps and cancer

Is has been known for some time that children with cancer are at slightly higher risk of congenital disorders. “The discovery that cancer and congenital disorders can have a similar genetic cause would be a logical explanation for this phenomenon,” says Dr. Wigard Kloosterman, one of the head researchers of the study and affiliated with UMC Utrecht.

Based on the results of the Utrecht researchers, one may ask himself whether the children with affected cancer genes actually have cancer as well, or may be at an increased risk of developing it. “We do suspect that, in order for these children to develop cancer, more DNA changes are required. This was not the case in any of the children examined,” says Kloosterman.

Severe congenital disorders are found in approximately one in every two hundred newborns. This is often caused by genetic changes, but other influences during pregnancy and birth can also cause disorders.


Heesch S van, Simonis M, Roosmalen MJ van, Pillalamarri V, Brand H, Kuijk EW, et al. Genomic and functional overlap between somatic and germline chromosomal rearrangements. Cell Reports 2014;9:1-10, DOI: 10.1016/j.celrep.2014.11.022

University Medical Center Utrecht