The discovery of these novel genes also provides crucial information on the biological mechanisms underlying cancer development, potentially opening the way to identifying new treatments.
The aim is to integrate this information into a comprehensive risk prediction tool currently used worldwide by health professionals. “Improving genetic counselling for high-risk women will promote shared decision-making regarding risk reduction strategies, screening and determination of treatment options,” emphasizes Professor Jacques Simard of Universit Laval.
“Although most of the variants identified in these new genes are rare, the risks can be significant for women who carry them. The strength of the study lies in the genetic data that was used for the analysis. Genetic changes in all genes were looked at in 26,000 women with breast cancer and 217,000 women without breast cancer. These included women from eight countries in Europe and Asia.
“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,” says Professor Douglas Easton, Director of the Centre for Cancer Genetic Epidemiology of the University of Cambridge.
Before this information can be used in a clinical setting, scientists need to validate the results in further datasets. “We need additional data to determine more precisely the risks of cancer associated with variants in these genes, to study the characteristics of the tumors, and to understand how these genetic effects combine with other lifestyle factors affecting breast cancer risks,” says Professor Easton. The research team is currently pursuing a large-scale international effort designed for this purpose.