New Breast Cancer Susceptibility Genes to Pave Way for Risk Prediction Test

Genetic tests for breast cancer currently focus on a limited number of genes, including BRCA1, BRCA2, and PALB2, but this scope only accounts for a small part of the overall genetic risk for the disease. This has led researchers to believe that other risk-associated genes are yet to be discovered. Now, a large-scale international collaborative study has identified new genes linked to breast cancer that could eventually be included in tests to detect women at an elevated risk of the disease.

The study led by researchers from Université Laval (Québec, Canada) and the University of Cambridge (Cambridge, UK) has found evidence for at least four new breast cancer risk genes, and possibly more. These newly-discovered genes deepen medical understanding of the genetic risk factors for breast cancer and could improve risk prediction. By identifying women with a higher likelihood of developing the disease, there is potential for improving breast screening methods, risk reduction strategies, and clinical management practices. In addition, the discovery of these new genes sheds light on the biological processes that lead to cancer development, possibly paving the way for new treatment options.

What sets this study apart is the extensive genetic data utilized in the analysis. The research included an examination of genetic changes across all genes in a sample of 26,000 women with breast cancer and 217,000 without the disease, encompassing participants from eight countries in Europe and Asia. The goal is to incorporate this newfound information into a comprehensive risk prediction tool that health professionals worldwide currently use. However, before these discoveries can be implemented in a clinical environment, the researchers have recognized the need to validate the results with further datasets for which the team is presently undertaking a large-scale international effort.

"Improving genetic counseling for high-risk women will promote shared decision-making regarding risk reduction strategies, screening and determination of treatment options," said Professor Jacques Simard of Université Laval. “Although most of the variants identified in these new genes are rare, the risks can be significant for women who carry them. For example, alterations in one of the new genes, MAP3K1, appear to give rise to a particularly high risk of breast cancer.”

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Université Laval 
University of Cambridge