New genetic cause of childhood cancer found

May 30, 2017
Credit: CC0 Public Domain

Scientists have identified a genetic mutation that causes a childhood kidney cancer called Wilms' tumour.

The research revealed how loss of control over the number of chromosomes in a cell can lead to .

How the research was done

Researchers looked at families with a rare genetic syndrome called mosaic variegated aneuploidy (MVA) to try to identify mutations that might be linked to Wilms' tumour.

Individuals with MVA have cells with the wrong number of chromosomes – some have too many, while others have too few. This is known as aneuploidy.

Twenty families with MVA had their genes analysed using a technique called . Mutations in a gene called TRIP13 were found.

Wilms' is a form of kidney cancer that occurs mainly in . It affects about 1 in 10,000 children but fortunately is curable in about 90% of cases.

What the research found

The TRIP13 gene codes for one of the essential proteins involved in ensuring the correct number of chromosomes go into each cell during cell division. Aneuploidy is a hallmark of cancer and so it is unsurprising that children with MVA are at risk of cancer.

However, the study found that not all children with MVA were at high risk. Those with the TRIP13 mutation, and another previously identified mutation called BUB1B, were at . But children with MVA due to other causes were not.

This suggests that it is the underlying mechanism which causes aneuploidy that might be important in understanding cancer risk and not solely having the wrong number of in a cell. It is an important development that provides valuable information about the fundamental biology of cancer.

Wellcome Senior Investigator Professor Nazneen Rahman from The Institute of Cancer Research, London, who led the study, said: "This study has been of immediate use to families in providing a reason for why their child developed cancer, and information about risks to other children, which is very rewarding.

"Equally importantly the study has provided new information about how aneuploidy and cancer are linked – a topic that has been hotly debated and intensively researched for many decades."

Explore further: New genetic cause of a childhood kidney cancer discovered

More information: Shawn Yost et al. Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation, Nature Genetics (2017). DOI: 10.1038/ng.3883

Related Stories

New genetic cause of a childhood kidney cancer discovered

November 9, 2015
Genetic mutations in a gene called REST have been shown to cause Wilms tumour, a rare kidney cancer that occurs in children.

Mutations in a gene essential for cell regulation cause kidney cancer in children

August 7, 2014
Mutations in a gene that helps regulate when genes are switched on and off in cells have been found to cause rare cases of Wilms tumour, the most common kidney cancer occurring in children.

Study unravels the genetics of childhood 'overgrowth'

May 4, 2017
Researchers have undertaken the world's largest genetic study of childhood overgrowth syndromes - providing new insights into their causes, and new recommendations for genetic testing.

Study helps explain varying outcomes for cancer, Down Syndrome

April 6, 2017
Aneuploidy is a condition in which cells contain an abnormal number of chromosomes, and is known to be the cause of many types of cancer and genetic disorders, including Down Syndrome. The condition is also the leading cause ...

Causal link between aneuploidy and cancer

November 24, 2015
One of the key unresolved question in cancer is whether aneuploidy, as defined by the presence of gain or loss of chromosomes, is the cause or the consequence of cancer development. Since the observations by Boveri and Von ...

Recommended for you

Genome analysis with near-complete privacy possible, say researchers

August 17, 2017
It is now possible to scour complete human genomes for the presence of disease-associated genes without revealing any genetic information not directly associated with the inquiry, say Stanford University researchers.

Science Says: DNA test results may not change health habits

August 17, 2017
If you learned your DNA made you more susceptible to getting a disease, wouldn't you work to stay healthy?

Genetic variants found to play key role in human immune system

August 16, 2017
It is widely recognized that people respond differently to infections. This can partially be explained by genetics, shows a new study published today in Nature Communications by an international collaboration of researchers ...

Phenotype varies for presumed pathogenic variants in KCNB1

August 16, 2017
(HealthDay)—De novo KCNB1 missense and loss-of-function variants are associated with neurodevelopmental disorders, with or without seizures, according to a study published online Aug. 14 in JAMA Neurology.

Active non-coding DNA might help pinpoint genetic risk for psychiatric disorders

August 16, 2017
Northwestern Medicine scientists have demonstrated a new method of analyzing non-coding regions of DNA in neurons, which may help to pinpoint which genetic variants are most important to the development of schizophrenia and ...

Evolved masculine and feminine behaviors can be inherited from social environment

August 15, 2017
The different ways men and women behave, passed down from generation to generation, can be inherited from our social environment - not just from genes, experts have suggested.

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.