Scientists Identify Thousands of High-Risk Cancer Gene Variants

Scientists from the Wellcome Sanger Institute, along with their collaborators at The Institute of Cancer Research, London, and the University of Cambridge, have identified over 5,000 genetic variants that facilitate the growth of certain cancers along with potential therapeutic targets to prevent them from developing.

Study Details

The research aimed to assess the health impact of all possible changes in the tumor protection gene BAP1. The gene acts as a powerful tumor suppressor in the body, offering protection against cancers affecting the brain, skin, kidney, lung lining, and eye. By testing 18,108 DNA changes in the BAP1 gene, researchers discovered that 5,665 of these changes were harmful and disrupted the protein’s protective effects.

Link with Cancer and Hormones

Further analysis of data from the UK Biobank revealed that individuals carrying these harmful BAP1 variants were over 10% more likely to be diagnosed with cancer than the general population. The study revealed a link between harmful BAP1 variants and elevated levels of IGF-1, a hormone and growth factor linked to brain development and cancer growth. The team also found that higher levels of IGF-1 were linked to worse outcomes in uveal melanoma patients. The findings suggest IGF-1 could be a potential target for new treatments to prevent certain cancers.

Potential for New Treatments

Analysis of the study findings has shown a potential for developing new drugs that could inhibit the harmful effects of certain variants on BAP1, potentially preventing cancer growth in humans. The findings are crucial for early detection and guided preventative measures for individuals with inherited variants in BAP1, who have a higher lifetime risk of developing cancer.

Benefitting Diverse Populations

In the past, non-Europeans have been underrepresented in genetic studies. However, this study profiles all possible BAP1 variants from diverse populations, making the findings accessible and relevant to all people, regardless of their ancestry.

Potential Impact of the Study

The study provides a true picture of gene behavior, enabling larger and more complex studies of genetic variation. The insights gleaned could mean more accurate interpretation of genetic tests, earlier diagnoses, and improved outcomes for patients and their families. The technique also opens up new possibilities for understanding how genetic changes drive diseases like cancer and provides the foundation for similar studies on other genes.

Immediate Availability of Research Findings

The study findings are available freely to doctors and healthcare professionals so that they can be immediately used to diagnose patients and select the most effective therapies for them.

Conclusion

The study has identified thousands of genetic variants facilitating the growth of certain cancers, along with potential therapeutic targets to prevent them from developing. The research is significant for early detection and guided preventative measures, promoting treatment effectiveness, and improving the quality of life for individuals affected by cancer.

It adds to the understanding of how genetic changes drive cancer, opening up new possibilities for drug development and providing a foundation for similar research on other genes in the future.

Originally Post From https://medicalxpress.com/news/2024-07-scientists-thousands-high-cancer-gene.html

Scientists Uncover Thousands of High-Risk Cancer Gene Variants