Thousands of genes that put you at high risk for cancer identified in groundbreaking research… Could YOU be carrying one without even knowing it?
Scientists may have moved a step closer to new cancer treatments after discovering thousands of genetic mutations that increase the risk of the disease.
Experts have long known that many cases involve problems with a gene called BAP1, also known as the “tumor protection gene,” which causes the gene to malfunction and promote cancer growth.
But until now, they didn’t know what specific changes to look for.
British researchers have now found an answer. They have discovered more than 5,000 damaging fault lines that can disrupt the protective effect of the water.
They also found that about a fifth of these potential changes were caused by pathogens such as viruses, which significantly increase the risk of developing cancers of the eyes, lungs, brain, skin and even kidneys.
Until now, experts didn’t know exactly what specific genetic changes to look for in the ‘tumour protection’ gene BAP1 that cause it to malfunction and drive cancer growth. But researchers in the UK have now discovered more than 5,000 harmful changes in the protein’s DNA that could disrupt its protective effects. Pictured: Researchers from the Wellcome Sanger Institute in Cambridgeshire
They found that about a fifth of these potential changes were caused by pathogens, significantly increasing the risk of developing cancers of the eyes, lungs, brain, skin and even the kidneys.
Scientists say the discovery could be good news for thousands of Britons at risk of the disease, allowing patients to receive targeted treatment more quickly and paving the way for new drugs to be developed.
Professor Clare Turnbull, an expert in cancer genetics at the Institute of Cancer Research in London and a clinical cancer genetics consultant at the Royal Marsden NHS Foundation, said: ‘This research could lead to more accurate interpretation of genetic tests, earlier diagnoses and better outcomes for patients and their families.’
Dr Andrew Waters, an expert in cancer gene mutations at the Wellcome Sanger Institute, adds: ‘Previous approaches to studying how variants affect the function of genes have focused on very small scales or excluded important contexts that could contribute to how they behave.
‘Our approach provides a true picture of the behavior of genes, enabling larger and more complex studies of genetic variation.
“This opens up new possibilities for understanding how these changes cause disease.”
As part of the research, scientists from the Wellcome Sanger Institute, the Institute for Cancer Research, Londonand the University of Cambridge tested 18,108 DNA changes in the BAP1 gene.
In a process known scientifically as “saturation genome editing,” they artificially altered the genetic code of human cells grown in a dish. They found that 5,665 of these changes were harmful.
People who carry these harmful BAP1 variants are more than ten percent more likely to be diagnosed with cancer than the general population.
Writing in the diary, Natural GeneticsThe researchers also found that people with harmful BAP1 variants have increased levels of IGF-1 in their blood, a hormone linked to both cancer growth and brain development.
Even people without cancer showed these elevated levels, suggesting that IGF-1 could be a target for new treatments to slow or prevent certain cancers, they added.
The discovery also opens the door to the development of new drugs that could inhibit these damaging effects and thus slow or prevent the progression of certain types of cancer, the researchers said.
By detecting these variants early through genetic screening, preventive measures can be taken and the effectiveness of treatment can be improved.
Dr David Adams, lead author of the study from the Wellcome Sanger Institute, said: ‘We want to ensure that life-saving genetic insights are accessible and relevant to everyone, regardless of their background.
‘Our goal is to apply this technique to a broader range of genes, so that within ten years we can potentially cover the entire human genome with the Atlas of Variant Effects.’
The BAP1 protein acts as a powerful tumor suppressor in the body, protecting against cancers of the eyes, lungs, brain, skin and kidneys.
Hereditary variants that disrupt the protein can increase the risk of developing these cancers by as much as 50 percent.
Research shows that most BAP1-related cancers are more aggressive and occur at a young age.
At the same time, several studies have shown that patients with a BAP1 mutation have a seven times higher survival rate than patients without a genetic predisposition.
