Scientists identified new genes that contribute to breast cancer susceptibility

Novel genes linked to breast cancer.


The leading cause of cancer-related death in women globally is breast cancer. Breast cancer susceptibility is known to be given through common variants found through genome-wide association studies (GWAS) and rarer coding variants conferring more significant disease risks.

Scientists from the University of Cambridge and Université Laval in Quebec have discovered novel genes linked to breast cancer that could be used in tests to identify women at high risk of the illness. 

Only a few genes, including BRCA1, BRCA2, and PALB2, are currently considered by genetic tests for breast cancer. These only explain a small portion of the genetic risk, indicating that other genes may still need to be discovered. Researchers examined changes in all genes in 26,000 women with breast cancer and 217,000 women without breast cancer. Women from eight different European and Asian nations were among them.

The new study discovered evidence for at least four additional breast cancer risk genes, with solid support for many more. This discovery will help scientists understand the genetic risk of breast cancer and enhance risk prediction by identifying women at higher risk of the disease.

Professor Douglas Easton, Director of the Centre for Cancer Genetic Epidemiology at the University of Cambridge, who co-led the study, said, “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.”

Professor Jacques Simard of Université Laval, co-lead of the study, said, “Improving genetic counseling for high-risk women will promote shared decision-making regarding risk reduction strategies, screening, and determination of treatment options.” 

To determine the cancer risks linked to gene variants, researchers must analyze tumor characteristics and comprehend how these genetic effects interact with other lifestyle factors to increase the risk of breast cancer before applying their findings in clinical settings.

Identifying new treatments may be possible by discovering these novel genes, which also offer essential details on the fundamental processes behind cancer growth. 

The researcher said, “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.”

The findings will improve methods for clinical management, risk reduction, and breast screening. The objective is to incorporate this data into a comprehensive risk prediction tool now utilized by health experts worldwide. 

The Government of Canada funded the study through Genome Canada and the Canadian Institutes of Health Research.

Journal Reference:

  1. Naomi Wilcox, Martine Dumont, et al. Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk. Nature Genetics. DOI: 10.1038/s41588-023-01466-z
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