Recent genes linked to breast cancer risk identified

A big-scale international collaborative study lead by Professor Jacques Simard from Université Laval and Professor Douglas Easton on the University of Cambridge, UK, has identified latest genes related to breast cancer that might eventually be included in tests to discover women at increased risk.

Current genetic tests for breast cancer only consider a couple of genes, similar to BRCA1, BRCA2, and PALB2. Nonetheless, these only explain a minority of the genetic risk, suggesting that more genes remain to be identified.

The study found evidence for at the very least 4 latest breast cancer risk genes, with suggestive evidence for a lot of others. The identification of those latest genes will contribute to our understanding of the genetic risk of breast cancer. This latest knowledge will help improve risk prediction by higher identifying those women at higher risk of the disease. This can higher inform approaches to breast screening, risk reduction and clinical management.

The invention of those novel genes also provides crucial information on the biological mechanisms underlying cancer development, potentially opening the method to identifying latest treatments.

Improving patient care

The aim is to integrate this information right 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 Université Laval.

Although a lot of the variants identified in these latest genes are rare, the risks could be significant for ladies who carry them. For instance, alterations in one in every of the brand new genes, MAP3K1, appear to present rise to a very high risk of breast cancer.”

Professor Jacques Simard, researcher on the Genomics Center of the CHU de Québec-Université Laval Research Center

The strength of the study lies within the genetic data that was used for the evaluation. Genetic changes in all genes were checked out 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, that is the biggest study of its kind. It was made possible through the use of information from multiple collaborators in lots of countries, in addition to 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 could be utilized in a clinical setting, scientists must validate the leads to further datasets. “We want additional data to find out more precisely the risks of cancer related to variants in these genes, to review the characteristics of the tumours, and to grasp how these genetic effects mix with other lifestyle aspects affecting breast cancer risks,” says Professor Easton. The research team is currently pursuing a large-scale international effort designed for this purpose.

The study by Naomi Wilcox (University of Cambridge) et al. was published on August 17, 2023 within the journal Nature Genetics. The study was jointly supervised by Professors Jacques Simard and Douglas Easton.

This study was funded by the Government of Canada through Genome Canada and the Canadian Institutes of Health Research, the Ministère de l’Économie et de l’Innovation du Québec through Genome Québec, the Quebec Breast Cancer Foundation, the European Union Horizon programme, the Wellcome Trust in addition to the International Alliance for Cancer Early Detection, an alliance between Cancer Research UK, the Canary Center at Stanford University, the University of Cambridge, OHSU Knight Cancer Institute, University College London and the University of Manchester.