Genetic Mutations Linked To Childhood Kidney Cancer

According to a study published in Nature Genetics, an international team of researchers have identified mutations in two regions of the genome that increase the risk of developing Wilms tumor.

Wilms tumor is the most prevalent type of kidney cancer in children and usually develops before the age of five. The disease affects around 1 in 10,000 children and has a 90% cure rate. In the majority of children researchers are unsure as to what causes the tumor although they know that genes play a role.

In this study, the researchers report on the first scan of common mutations in the genomes of Wilms tumor patients.

The researchers used a genome wide association study in order to compare common DNA mutations in the genetic code of nearly 1,500 Wilms tumor patients with variants in 3,850 healthy individuals in the UK and the United States.

The team identified two chromosomes (2 and 11) that contained mutations that were considerably more prevalent among individuals affected by the disease.

Lead author of the study, Professor Nazneen from The Institute of Cancer Research (ICR) and The Royal Marsden NHS Foundation Trust, explained:




"Our previous studies show that there are undiscovered genetic factors that cause Wilms tumor, and this study brings us an important step closer to finding them.

The next step is to determine exactly what it is about these regions of the genome that is causing the link with Wilms tumor. This will lead to better understanding of the condition and, potentially, improved treatments."




According to the researchers, the DNA regions where these variations have been found include genes known to be associated in other diseases and cancer. The identification of these variations well help researchers to better understand the biological pathways that may cause Wilms tumor, and are also a potential target for new medications.

On chromosome 11, the researchers found a variant in the gene DLG2. DLG2 is part of a biological system that makes sure tissue grows correctly during development, and according to previous studies, disruption of this pathway is linked to cancer. In addition on chromosome 2, the team found a variant near the gene DDX1, which is involved in repairing damaged DNA. Several known cancer genes also have similar roles in DNA repair.

Furthermore, the researchers found three other DNA mutations also likely to be associated to Wilms tumor which they are currently studying further.