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New genetic cause of a childhood kidney cancer discovered

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

Wilms tumour affects about 1 in 10,000 children, but fortunately is curable in about 90% of them.

A study led by researchers at The Institute of Cancer Research, London, identified mutations in the REST gene in 16 children with Wilms tumour.

Nine of the children were the only members of the family to develop Wilms tumour, but in four families more than one child had developed the cancer.

It was the clustering of cases of this rare cancer that alerted the researchers that a hereditary genetic cause was likely. They estimate that REST mutations cause about 10% of familial Wilms tumour.

The research is published today (Monday) in the journal Nature Genetics, and is part of the Factors Associated with Childhood Tumours (FACT) study, which is uncovering genetic causes of childhood cancers and has participants from more than 5,000 families. The FACT study is funded by the Wellcome Trust and the Rosetrees Trust, and the REST project involved international collaborators including from Baylor College of Medicine in Texas, US.

REST is a well-studied gene because of its critical role in embryo development, but this research brings a new, previously unrecognised, role of REST to the field of human genetics.

The mutations found in children with Wilms tumour appear to compromise the normal functioning of REST in regulating the development of the embryo.

Study leader Professor Nazneen Rahman, Head of Genetics and Epidemiology at The Institute of Cancer Research, London, and Head of Cancer Genetics at The Royal Marsden NHS Foundation Trust, said:

"We hope our findings will stimulate research into why and how these REST mutations, which all cluster in a particular part of the gene, cause cancer.

"Our findings are also of immediate value to families, who now have an explanation for why their child got cancer. Moreover, we can now do a simple blood test to see which children in the family are at risk of cancer and may benefit from cancer screening, and which have not inherited the mutation and so are not at increased risk of cancer. This kind of information is really valuable for the families of children with cancer."

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Notes to editors

For more information contact Henry French on 020 7153 5582 / [email protected] For enquiries out of hours, please call 07595 963 613.

The Institute of Cancer Research, London, is one of the world's most influential cancer research institutes.

Scientists and clinicians at The Institute of Cancer Research (ICR) are working every day to make a real impact on cancer patients' lives. Through its unique partnership with The Royal Marsden NHS Foundation Trust and 'bench-to-bedside' approach, the ICR is able to create and deliver results in a way that other institutions cannot. Together the two organisations are rated in the top four cancer centres globally.

The ICR has an outstanding record of achievement dating back more than 100 years. It provided the first convincing evidence that DNA damage is the basic cause of cancer, laying the foundation for the now universally accepted idea that cancer is a genetic disease. Today it leads the world at isolating cancer-related genes and discovering new targeted drugs for personalised cancer treatment.

As a college of the University of London, the ICR provides postgraduate higher education of international distinction. It has charitable status and relies on support from partner organisations, charities and the general public.

The ICR's mission is to make the discoveries that defeat cancer. For more information visit http://www.icr.ac.uk

The Royal Marsden NHS Foundation Trust

The Royal Marsden opened its doors in 1851 as the world's first hospital dedicated to cancer diagnosis, treatment, research and education.

Today, together with its academic partner, The Institute of Cancer Research (ICR), it is the largest and most comprehensive cancer centre in Europe treating over 50,000 NHS and private patients every year. It is a centre of excellence with an international reputation for groundbreaking research and pioneering the very latest in cancer treatments and technologies.

The Royal Marsden, with the ICR, is the only National Institute for Health Research Biomedical Research Centre for Cancer. First awarded the status in 2006, it was re-awarded in 2011. A total of £62 million is being provided over five years, to support pioneering research work, and is being shared out over eight different cancer themes.

The Royal Marsden also provides community services in the London boroughs of Sutton and Merton and in June 2010, along with the ICR, the Trust launched a new academic partnership with Mount Vernon Cancer Centre in Middlesex.

Since 2004, the hospital's charity, The Royal Marsden Cancer Charity, has helped raise over £100 million to build theatres, diagnostic centres, and drug development units.

Prince William became President of The Royal Marsden in 2007, following a long royal connection with the hospital.

About the Wellcome Trust

The Wellcome Trust is a global charitable foundation dedicated to improving health. We provide more than £700 million a year to support bright minds in science, the humanities and the social sciences, as well as education, public engagement and the application of research to medicine.

Our £18 billion investment portfolio gives us the independence to support such transformative work as the sequencing and understanding of the human genome, research that established front-line drugs for malaria, and Wellcome Collection, our free venue for the incurably curious that explores medicine, life and art. http://www.wellcome.ac.uk

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