Science, Space and Technology News 2024
In a major genetic study, over 5,000 variants linked to increased cancer risk were identified in the BAP1 gene, revealing the potential for new targeted therapies and improving genetic testing for diverse populations.
The BAP1 protein acts as a powerful tumor suppressor in the body, protecting against cancers of the eye, lung lining, brain, skin, and kidney. Inherited variants that disrupt the protein can increase a person’s lifetime risk of developing these cancers by up to 50 per cent, typically occurring around middle age.
Dr Andrew Waters, first author of the study at the Wellcome Sanger Institute, said: “Previous approaches for studying how variants affect 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 behavior, enabling larger and more complex studies of genetic variation. This opens up new possibilities for understanding how these changes drive disease.
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