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Study identifies thousands of high-risk cancer gene variants and potential therapeutic target

2024-07-08

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Researchers from the Wellcome Sanger Institute, the Institute of Cancer Research and the University of Cambridge have identified thousands of high-risk cancer gene variants, along with a potential therapeutic target to treat or prevent the development of these cancers.

Findings from the stuWellcome Sanger InstituteneticsInstitute of Cancer Research Canceroctors to help diaUniversity of Cambridgect the most effective therapies for themcancer cancers

Researchers tested more than 18,000 DNA changes in the BAP1 gene, a ‘tumour protection’ protein that protects against cancers of the eye, lung lining, brain, skin and kidney, by artificially altering dish-grown human cells’ genetic code.

For individuals with inherited variants that can disrupBAP1e protein,tumour is an increased risk of up to 50% of develcancershese cancers, typically occurring around middle age.

In total, the team identified 5,665 harmful changes that disrupted the protein’s protective effects, which was confirmed after anacancersUK Biobank data, when more than 10% of individuals carrying these harmful BAP1 variants were more likely to be diagnosed with cancer than the general population.

In addition, researchers found that people with harmful BAP1 variants had increased levels of IGF-1, a hormone linked to cancer growth and brain development, in their blood, suggesting that it could be a potentiBAP1arget for new treatments to slow down or preventcancerin cancers.

Furthermore, analysis revealed that harmful BAP1 variantBAP1d higher IGF-1 levels were associaIGF-1ith worse outcomes in cancerts with uveal melanoma, a rare cancer that causes melanin in the uvea or uveal tract of the eye, further highlighting the potential for IGF-1 inhcancers in cancer therapy.

First author of the study, Dr Andrew Waters BAP1he Wellcome Sanger InIGF-1te, commented: “Our approach provides a true picture of gene uveal melanomad] opens cancer possibilities for understanding how these changes drive disease.”IGF-1 inhibitors IGF-1 cancer

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