June 18, 2024

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New Genetic Factors for Breast Cancer through Genome Study

New Genetic Factors for Breast Cancer through Genome Study


New Genetic Factors for Breast Cancer through Genome Study.

A large-scale international collaborative study has identified novel genes associated with breast cancer.

A groundbreaking global research effort led by Professor Jacques Simard from Laval University and Professor Douglas Easton from the University of Cambridge has pinpointed new genes linked to breast cancer. These findings hold the potential to be integrated into future screenings for identifying women at higher risk.


Current genetic testing for breast cancer primarily focuses on specific genes such as BRCA1, BRCA2, and PALB2. However, these genes constitute only a fraction of the hereditary risk, indicating that uncharted genes may also play a role.


This study has unveiled at least four new breast cancer risk genes and provided preliminary evidence for several others. Understanding these genes not only deepens our comprehension of genetic susceptibility to breast cancer but also enhances risk prediction accuracy.

This heightened understanding will advance more effective breast cancer screening methods, risk mitigation strategies, and clinical management protocols.


Furthermore, the discovery of these novel genes opens doors to comprehending the biological processes driving cancer growth, thus paving the way for innovative therapies.


New Genetic Factors for Breast Cancer through Genome Study New Genetic Factors for Breast Cancer through Genome Study



The overarching goal of the research is to integrate this information into existing comprehensive risk assessment tools widely employed by global medical experts. Professor Jacques Simard from Laval University emphasized, “Improving genetic counseling for high-risk women will foster shared decision-making in risk reduction strategies, screening, and treatment determination. While most of the variations identified in these new genes are rare, the risks could be substantial for women carrying these variants. For instance, one of the newly identified genes, MAP3K1, seems to significantly elevate the risk of breast cancer.”

The strength of this study lies in the genetic data utilized for analysis. Researchers scrutinized all genetic changes among 26,000 women with breast cancer and 217,000 women without. This cohort included participants from eight European and Asian countries.

“As far as we know, this is the largest-scale endeavor of its kind,” stated Professor Douglas Easton, Director of the Cancer Genetic Epidemiology Centre at the University of Cambridge.

“Before translating this information into clinical use, scientists need to validate these results across more datasets,” Professor Easton added, “We require more data to precisely determine cancer risks associated with these genetic variations, study tumor characteristics, and understand how these genetic effects interact with other lifestyle factors influencing breast cancer risk. The research team is currently undertaking a large-scale international investigation for this purpose.”

The research report by Naomi Wilcox and colleagues from the University of Cambridge will be published in the journal “Nature Genetics” on August 17, 2023.




New Genetic Factors for Breast Cancer through Genome Study

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