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. Researchers have pinpointed specific variants in a gene that significantly raise the likelihood of developing various cancer types. This discovery has the potential to enhance early detection and facilitate personalized treatments for diverse populations.
Scientists have identified over 5,000 genetic variants that help certain cancers thrive, as well as a potential therapeutic target that could treat or possibly prevent these cancers from developing. Researchers from the Wellcome Sanger Institute , and their collaborators at The Institute of Cancer Research, London, and the University of Cambridge assessed the health impact of all possible genetic changes in the ‘tumour protection’ gene, BAP1 . They found around a fifth of these possible changes were pathogenic, significantly increasing the risk of developing cancers of the eye, lung lining, brain, skin, and kidney.
The findings, published in Nature Genetics , are freely available so that they can be immediately used by doctors to help diagnose patients and choose the most effective therapies for them. Importantly, as all possible variants were assessed, the findings benefit individuals from diverse ethnic backgrounds, who have historically been underrepresented in genetics research. Potential for New Cancer.