New Hereditary Form of Breast Cancer Linked to CDH1 Gene Mutation Discovered by Italian Researchers
A groundbreaking discovery by researchers from the European Institute of Oncology in Milan has identified a new hereditary form of breast cancer associated with mutations in the CDH1 gene. This gene is already known to predispose individuals to hereditary gastric cancer. The findings of this research have been published in the prestigious journal Jama Network Open.
This newly identified form of breast cancer, termed “hereditary lobular breast cancer”, is distinct from the classic hereditary breast cancer syndrome caused by mutations in the BRCA1 and BRCA2 genes. The researchers have outlined new genetic tests that can determine who is at risk for this specific type of breast cancer. Women with lobular cancer under the age of 45 or with a positive family history of lobular breast cancer are advised to undergo testing for CDH1 gene mutations.
Dr. Giovanni Corso, the lead author of the study, had a clinical intuition over a decade ago that the CDH1 gene might be linked to lobular breast cancer. The research team enrolled over 5,000 women who had undergone breast surgery for lobular cancer, and through genetic testing, identified a subset with CDH1 gene variants. The results confirmed a strong association between these variants and the development of hereditary lobular breast cancer.
Professor Paolo Veronesi, a co-author of the study, emphasized the clinical implications of this discovery. Women with the new hereditary syndrome can now be offered preventive measures such as bilateral mastectomy or regular gastroscopy to monitor for the potential risk of gastric cancer.
The study, funded by the Ministry of Health and conducted over several years, has provided valuable insights into a previously unknown form of hereditary breast cancer. The researchers’ findings have the potential to revolutionize genetic testing and clinical management for individuals at risk of developing this specific type of cancer.