Thousands of high-risk cancer genes identified in landmark study… so could could YOU be carrying one without knowing? By Emily Stearn, Health Reporter For Mailonline
Scientists may be one step closer to new cancer treatments after discovering thousands of genetic mutations that increase risk of the disease.
Experts have long known that many cases are linked to problems with a gene called BAP1, also known as ‘the tumour protection gene’, that cause it to malfunction and fuel cancer growth. But until now, they were unsure which specific changes to look out for.
Now British researchers have an answer after discovering more than 5,000 harmful faults which can disrupt its protective effects.
They also found around 1/5 of these possible changes were caused by pathogens such as viruses, significantly increasing the risk of developing cancers of the eye, lung lining, brain, skin, and even kidney.
Until now, experts were unsure exactly which specific genetic changes to look out for in the ‘tumour protection’ gene BAP1 that cause it to malfunction and fuel cancer growth. But researchers in the UK have now discovered more than 5,000 harmful changes to the protein’s DNA which can disrupt its protective effects. Pictured, researchers at the Wellcome Sanger Institute in Cambridgeshire
In what could be good news for thousands of Brits at risk of the disease, scientists said the discovery could help patients get targeted treatments quicker and open the door for developing new drugs. Professor Clare Turnbull, an expert in cancer genetics at The Institute of Cancer Research in London, and consultant in clinical cancer genetics at The Royal Marsden NHS Foundation, said: ‘This research could mean more accurate interpretation of genetic tests, earlier diagnoses and improved outcomes for patients and their families.’ Dr Andrew Waters, an expert in cancer gene mutations at the Wellcome Sanger Institute, added: ‘Previous approaches for studying how variants effect function in genes have been on a very small scale, or exclude important contexts that may contribute to how they behave.
‘Our approach provides a true picture of gene behaviour, enabling larger and more complex studies of genetic variation.
‘This opens up new possibilities for understanding how these changes drive disease.’
Under the research, scientists at the Wellcome Sanger Institute, the Institute of Cancer Research, London, and the University of Cambridge tested 18,108 DNA changes in the BAP1 gene.