For many families, breast and ovarian cancer are not just illnesses. They’re painful inheritances, passed down through generations.
Women with these diseases in their family often live with an uncomfortable question: Could it be me next?
Until now, many of them were left without answers. Genetic tests sometimes showed mutations of unknown significance. Not helpful. Not actionable. Just uncertainty.
But that might soon change thanks to a new method developed by researchers at the University of Copenhagen and tested at Rigshospitalet in Denmark.
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The invisible gene revealed
The research team has focused on the BRCA2 gene, known to play a crucial role in hereditary breast, ovarian and other types of cancer.
Scientists have long known that certain mutations in this gene can increase cancer risk significantly. But in many cases, the mutation’s effect was unknown.
Now, that gap is closing.
Using a new technique called CRISPR-Select, the researchers have analyzed 54 previously unclassified variants in the BRCA2 gene.
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The result: they now know exactly which of these mutations are dangerous — and which are harmless.
This breakthrough allows doctors to provide clear answers to patients who, until now, were told, "We just don’t know".
The method was tested in a clinical environment at Rigshospitalet.
By combining laboratory testing with the latest international guidelines on gene variant classification, the team has created a tool that can change how hereditary cancer is diagnosed and managed.
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A global game-changer
Although the study is Danish, its reach is international. The results have been shared in public databases that doctors and researchers around the world use.
That means a woman in Canada or Japan can now benefit from data generated in Copenhagen.
For patients, this could mean early screening, preventive surgery or peace of mind — options that weren’t available before.
One of the lead researchers, Maria Rossing, believes the method will save lives if it becomes a standard tool in hospitals.
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This article is based on information from Via Ritzau.
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