New genes join the battle against breast cancer
A large-scale international collaborative study supported in part by the EU-funded BRIDGES and B-CAST projects has found new genes that are associated with breast cancer. These genes could eventually be included in tests to identify women who are more likely to develop the disease. Today’s genetic tests only take a few breast cancer risk genes into account, and these genes only explain a small fraction of the genetic risk. The study found evidence of at least four new genes associated with breast cancer, as well as evidence suggesting that there are many others.
More knowledge, better care
This discovery has multiple benefits. It will give scientists greater insight into the genetic risk of breast cancer and help improve risk prediction. It also provides the basis for better approaches to breast screening, risk reduction and clinical management. The discovery of the new genes could also provide important information on the biological mechanisms underlying cancer development that could pave the way for new treatments. “Improving genetic counselling for high-risk women will promote shared decision-making regarding risk reduction strategies, screening and determination of treatment options,” remarks study co-senior author Prof. Jacques Simard of BRIDGES and B-CAST project partner Université Laval, Canada, in a news item posted on ‘EurekAlert!’. “Although most of the variants identified in these new genes are rare, the risks can be significant for women who carry them,” the researcher adds. “For example, alterations in one of the new genes, MAP3K1, appear to give rise to a particularly high risk of breast cancer.” For the study, the research team looked at genetic changes in all genes in more than 26 300 women with breast cancer and over 217 600 women without the disease. The study participants were 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,” reports co-senior author Prof. Douglas Easton of BRIDGES and B-CAST project partner University of Cambridge. However, although an exceptionally valuable discovery – and a timely one too as October is Breast Cancer Awareness Month – the results first need to be validated in further data sets before they can be used in clinical practice. “We need additional data to determine more precisely the risks of cancer associated with variants in these genes, to study the characteristics of the tumours, and to understand how these genetic effects combine with other lifestyle factors affecting breast cancer risks,” explains Prof. Easton. The study has been published in the journal ‘Nature Genetics’. BRIDGES (Breast Cancer Risk after Diagnostic Gene Sequencing (BRIDGES)) and B-CAST (Breast CAncer STratification: understanding the determinants of risk and prognosis of molecular subtypes) ended in 2021. For more information, please see: BRIDGES project website B-CAST project
Keywords
BRIDGES, B-CAST, cancer, breast cancer, gene, genetic risk