A recent study has uncovered 80 genes that may increase the risk of developing breast cancer, with 70 of these genes previously unknown to be associated with the disease. The study focused on 12 families with a high incidence of breast cancer but with no known genetic causes. While most cases of breast cancer are not hereditary, approximately 5% to 10% of cases are, with mutations in genes like BRCA1 and BRCA2 being common causes. However, many families are left without answers regarding the genetic basis of their disease.
The study, led by Dr. Gal Passi, analyzed the genomes of individuals from Jewish Middle Eastern, North African, and Ashkenazi backgrounds. They identified 1,218 mutations shared among individuals with breast cancer and used machine learning techniques to predict which gene variants may be cancer-causing. They pinpointed 80 gene variants associated with an increased risk of breast cancer, with eight of these variants involved in fatty acid metabolism.
The researchers also analyzed the genomes of around 10,000 breast cancer patients and found that the eight gene variants identified in the study were carried by 9% of these individuals. Three of these variants were linked to lower survival rates in patients. The team plans to conduct lab experiments to confirm whether these gene variants produce proteins that affect tumor growth and to identify more cancer-linked variants in other families with the disease.
Identifying these gene variants is crucial for more inclusive genetic testing for breast cancer and the development of targeted treatments. One of the gene variants highlighted in the study, HSD17B4, has been suggested as a potential drug target for breast cancer. Further research in this area could lead to personalized treatment options for individuals with different genetic risk factors for breast cancer.
In conclusion, this study sheds light on the genetic factors that may contribute to an increased risk of breast cancer in certain families. By identifying these gene variants, researchers aim to improve genetic testing and develop tailored treatments for individuals with a higher genetic predisposition to the disease. The findings of this study have the potential to impact the future of breast cancer research and treatment strategies.
