Image: A study has provided new insights into the genetic underpinnings of familial breast cancer (Photo courtesy of 123RF)
Breast cancer is the most common type of cancer among women in Western countries, and genetic variants are responsible for up to 10% of cases. Hereditary or familial breast cancer accounts for approximately 15% of all breast cancer cases. Mutations in well-known genes, such as BRCA1 and BRCA2, have been associated with an increased risk of familial breast and ovarian cancer, but these genes only explain 30-40% of familial cases. This leaves a significant number of cases with unclear genetic origins, particularly in families with a history of the disease spanning several generations. Despite this, many familial cases remain without genetic explanation due to the complex nature of the genetic factors involved. Now, a study has provided new insights into the genetic causes of familial breast cancer, particularly in families of Middle Eastern descent.
Researchers at the Hebrew University of Jerusalem (Jerusalem, Israel) conducted the study using an advanced method to examine genetic variations in families with a history of breast cancer. This approach combines machine learning with deep analysis of protein structures to investigate rare genetic variants. Using whole genome sequencing and applying artificial intelligence analysis, researchers studied genetic variations in women from Middle Eastern families. The study identified significant genetic changes, connecting specific gene subsets with critical cellular pathways involving peroxisomes, which are involved in fat metabolism. Analysis of 1,218 genetic variants from 12 families revealed 80 genes that could have a significant impact on breast cancer risk. Among them, 70 genes have not previously been linked to breast cancer, greatly improving our understanding of the genetic basis of the disease.
The study, published in Briefings in Bioinformaticshighlighted the importance of certain cellular pathways, particularly those involving peroxisomes and mitochondria, in increasing susceptibility to breast cancer and influencing patient survival. These pathways were particularly relevant across a variety of ethnic groups in seven of the families studied, emphasizing the broader importance of the findings. These discoveries open new possibilities for genetic testing and the development of targeted therapies, which could greatly improve the management and treatment of breast cancer in diverse populations. Additionally, these findings may eventually lead to the creation of a specialized genetic testing panel for these groups, improving early detection and personalized treatment strategies as research progresses.
“Our research not only sheds light on the elusive genetic factors behind familial breast cancer, but also heralds the possibility of new targeted treatment strategies that could eventually benefit a broader range of patients, particularly those from underrepresented groups,” said Professor Dina Schneidman-Duhovny of the Rachel and Selim Benin School of Computer Science and Engineering at the Hebrew University of Jerusalem, who led the study.
