Researchers identify four new breast cancer risk genes
Some guidelines recommend that women undergo screening as late as age 50.
What you need to know:
- The identification of these new genes will contribute to the understanding of the genetic risk of breast cancer.
- As a result, this new knowledge will help improve risk prediction by better identifying those women at higher risk of the disease and this will better inform approaches to breast screening, risk reduction and clinical management.
Scientists have found evidence for at least four new breast cancer risk genes, with suggestive evidence for many others.
This is after a large-scale international collaborative study published in the journal Nature Genetics identified the new genes associated with breast cancer that could eventually be included in tests to identify women at increased risk.
The identification of these new genes will contribute to the understanding of the genetic risk of breast cancer.
As a result, this new knowledge will help improve risk prediction by better identifying those women at higher risk of the disease and this will better inform approaches to breast screening, risk reduction and clinical management.
“Current genetic tests for breast cancer only consider a few genes such as BRCA1, BRCA2, and PALB2. However, these only explain a minority of the genetic risk, suggesting that more genes remain to be identified,” the researchers explained in an official release while highlighting why their breakthrough is very important.
“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.”
They added that their 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,” emphasised Prof 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,” said Prof Simard.
The researchers disclosed that the strength of their findings from 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. “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 Prof Douglas Easton, director of the Centre for Cancer Genetic Epidemiology of the University of Cambridge explained.
They however highlighted that 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 tumours, and to understand how these genetic effects combine with other lifestyle factors affecting breast cancer risks,” said Professor Easton while disclosing that the research team is currently pursuing a large-scale international effort designed for this purpose.
