Researchers May Have Identified Several New Breast Cancer Susceptibility Genes

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Researchers have identified genes that may be associated with breast cancer and could eventually be included in tests to identify high-risk patients, according to a recent study published by Wilcox et al in Nature Genetics.


Currently, genetic tests for breast cancer consider a few genes such as BRCA1, BRCA2, and PALB2. However, these genes may explain only a minority of the genetic risk, suggesting more genes remain to be identified.

Study Methods and Findings

In this large-scale international collaborative study, the researchers analyzed genetic changes across all genes in 26,000 patients with breast cancer and 217,000 controls. The researchers found evidence for at least four new genes potentially predictive of the risk of breast cancer.

The researchers hope the identification of the new genes will contribute to the understanding of the genetic risk of breast cancer and help identify those at higher risk of developing the disease. Further, the new discovery may provide crucial information on the biological mechanisms underlying cancer development as well as better inform approaches to breast cancer screening, risk reduction, and clinical management.

"Improving genetic counseling for high-risk [patients] will promote shared decision-making regarding [mitigation] strategies … and determination of treatment options,” highlighted co–senior study author Jacques Simard, PhD, FRSC, FCAHS, Professor at the Université Laval and a researcher at the Genomics Center of the Centre Hospitalier Universitaire de Québec–Université Laval Research Center. "Although most of the variants identified in these new genes are rare, the risks can be significant for [patients] 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,” Dr. Simard added.


"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,” noted co–senior study author Douglas Easton, PhD, Director of the Centre for Cancer Genetic Epidemiology at the University of Cambridge.

The researchers plan to integrate the new genetic information into a comprehensive risk prediction tool currently used worldwide by health-care professionals. However, before this information can be used in a clinical setting, researchers will need to validate the results in further data sets.

"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,” concluded Dr. Easton.

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