A new hereditary form of breast cancer has been discovered, which is caused by mutations in a gene, CDH1, already known to be linked to gastric cancer. The new form differs entirely from the classic hereditary breast cancer syndrome, caused by mutations in the BRCA1 and 2 genes. This emerged from the study – born from a clinical intuition of Giovanni Corso, breast surgeon at the European Institute of Oncology and researcher at State University of Milan – published in the JAMA Network Open magazine. The discovery opens up new genetic tests to understand who is at risk.
“It is a new syndrome called ‘hereditary lobular breast cancer’: we have in fact identified mutations of the CDH1 gene in women operated on for lobular breast cancer. We discovered that this gene, already known for the predisposition of hereditary gastric cancer, is also linked to new rare variant of lobular tumor, which occurs mainly in young women under 45 years of age at diagnosis, or with a positive family history of breast cancer, or with bilateral breast cancer”, explains Corso, which is why genetic testing will become crucial .
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