Scientists have made a breakthrough in breast cancer research, identifying at least four new genes associated with the disease. This discovery not only helps in identifying women at higher risk but also provides crucial information on the underlying biological mechanisms of cancer development. The study, published in the journal Nature Genetics, was conducted by an international team of researchers from the University of Cambridge and Universite Laval in Canada.

Current genetic tests for breast cancer primarily focus on a few genes, such as BRCA1, BRCA2, and PALB2. However, these genes explain only a fraction of the genetic risk, suggesting that additional genes are yet to be discovered. The recent study looked at genetic changes in all genes in a cohort of 26,000 women with breast cancer and 217,000 women without breast cancer from eight countries in Europe and Asia.

Professor Douglas Easton, co-lead of the study from the University of Cambridge, highlighted the significance of the research: “To our knowledge, this is the largest study of its kind. It was made possible through the use of data from multiple collaborators in many countries, as well as publicly available data from the UK Biobank.”

Identification of these new genes will greatly contribute to the understanding of genetic risks associated with breast cancer. This knowledge will help improve risk prediction and enable better identification of women at higher risk of developing the disease. The findings will also enhance approaches to breast cancer screening, risk reduction, and clinical management.

The ultimate goal is to integrate this newfound knowledge into a comprehensive risk prediction tool that is currently used by healthcare professionals worldwide. This will improve genetic counseling for high-risk women and empower them to make informed decisions regarding risk reduction strategies, screening, and treatment options.

Professor Jacques Simard, co-lead of the study from Universite Laval, emphasized the significance of the risks associated with the identified gene variants, stating, “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.”

Before this information can be utilized in a clinical setting, further validation is required using additional datasets. This validation process will enable scientists to determine the exact risks of cancer associated with variants in these genes, study tumor characteristics, and understand how these genetic effects interact with other lifestyle factors that affect breast cancer risks.

The discovery of these new genes represents a significant milestone in breast cancer research. It provides hope for improved risk prediction and personalized approaches to breast cancer management.

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