A study conducted by the European Institute of Oncology and published in the journal Jama Network Open has made it possible to discover a new form of hereditary breast cancer and the underlying gene, already known for its role in increasing the risk of hereditary gastric cancer.
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INSIGHTS
What is it
The new form of breast cancer depends on the CDH1 gene and differs entirely from the classic hereditary breast cancer, caused by mutations in the BRCA1 and 2 genes. Giovanni Corso, breast surgeon at the IEO and researcher at the State University of Milan, explained what but above all it is about the importance of carrying out tests: «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 is linked to the new rare variant of lobular tumor, which occurs predominantly in young women under 45 years of age at diagnosis, or with a positive family history of breast cancer, or with bilateral breast cancer.”
And give
According to various analyses, there is an increase of approximately 70% in the risk of developing breast cancer due to mutations in both BRCA1 and BRCA2. In general, approximately 8% of all breast cancers and as many as a quarter of ovarian cancers are associated with BRCA mutations, which are also very aggressive. The Italian study, financed by the Ministry of Health, involved 5429 women who underwent breast surgery for lobular cancer. There were a total of 1867 women who had the particular form of cancer and, among these, 394 were tested for the CDH1, BRCA1 and BRCA2 genes. About 5% had a variant of the CDH1 gene, while they did not have mutations of the BRCA1 and 2 genes. Although it is a rare syndrome, the probability that this variant leads to the disease is very high, about 40%.
I test
Giovanni Corso also spoke about the tests to be carried out and when the guidelines for carrying them out will be released: «Statistical analyzes have shown that the presence of mutated CDH1 in younger women (40 years old) predisposes to the development of lobular breast cancer, even more than the BRCA 1 and 2 genes. The risk of also developing gastric cancer remains uncertain, but possible. The CDH1 test, currently not provided for by the NHS, therefore becomes very important for both the woman and her family. We have already defined new clinical criteria for testing the CDH1 gene, which will be published shortly in the new guidelines of the Italian Association of Medical Oncology (AIOM)”.
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