Cancer genes contribute to emergence of congenital anomalies

Scientific news

Amsterdam, December 15th, 2014 –

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Cancer genes can also be the origin of congenital anomalies. A joint research group of the Hubrecht Institute and the University Medical Center Utrecht, The Netherlands, described this in the journal Cell Reports.

To understand the cause of congenital anomalies, the Dutch scientists investigated the DNA of one hundred children with severe mental and physical disorders. In nine children, they found that several cancer genes were affected by large alterations in the DNA. In several cases, these alterations activated the cancer genes, just as they would do in the emergence of cancer. In these children, the alterations did not yet lead to cancer.

“A lot of children with multiple disabilities carry a unique DNA alteration. That is why every child has a unique clinical picture”, says Sebastiaan van Heesch, PhD, who recently defended his dissertation on this subject. Currently, he is working at the renowned Max Delbrück Centrum in Berlin, Germany. “Understanding a congenital disease requires time-consuming research for every patient. Within the clinic, this is not yet possible”. The published results are the first step to a better understanding of a disease. For a treatment aimed at the individual patient, this is an important step.

It has been known that the prevalence of congenital disabilities is higher in children suffering from cancer. “The discovery that cancer and congenital diseases could have a common genetic cause could be a logical explanation for this phenomenon”, says Wigard Kloosterman, one of the study’s lead authors and affiliated to the UMC Utrecht.

Based on the results of the Dutch researchers, one might ponder the question if children with affected cancer genes have a higher risk of actually developing cancer. “We suspect that this requires more mutations in the DNA. In none of the examined children, this was the case”, says Kloosterman.

Sources: Cell Reports, UMC Utrecht

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