2023-09-11 11:45:34
Metaplastic breast cancer, a rare and aggressive form of breast cancer, may have hereditary origin according to a study by the European Institute of Oncology (Ieo) in Milan, which has demonstrated for the first time the existence of a link between this neoplasm and mutations in the Brca1 gene. The research is published in the ‘European Journal of Human Genetics’ together with an editorial comment signed by Gareth Evans, geneticist at Manchester University Hospital (GB). The work – underlines the specialist – allows us to better understand the mechanisms of birth and development of a complex and heterogeneous tumor, such as the metaplastic one, to increase the treatment options, which are currently limited and poorly effective.
The study was conducted on a large series of patients subjected to the BRCA1 and BRCA2 test – the so-called ‘Jolie genes’, by the American actress Angelina Jolie who made it known that she had cancer-risk mutations in these portions of DNA – therefore selected based on their personal and family oncological history. The analyzes show that a high percentage of diagnosed metaplastic tumors is hereditary: a “to date completely unknown fact”, highlight the Irccs founded by Umberto Veronesi.
“Metaplastic breast cancer – explains Giovanni Corso, IEO breast surgeon, researcher at the University of Milan and first author of the article – is still mostly a mystery: we know that it is rare (less than 5% of all tumors of the breast), which frequently affects young women and which unfortunately responds very little to therapies. But we don’t know why. This is why the discovery of its possible link with Brca1 finally opens up new horizons of treatment, with new generation drugs that have demonstrated efficacy against tumors that present this mutation. Some studies had already reported the possible role of Brca1 in increasing the risk of metaplastic tumor, but our work is the first to demonstrate, with a retrospective analysis of 5,226 patients with metaplastic tumor breast undergoing genetic testing in IEO, that over 50% of metaplastic tumors are significantly associated with the presence of BRCA”.
“First of all – report Bernardo Bonanni, director of the Division of Oncology Prevention and Genetics and co-author of the study, together with Mariarosaria Calvello, co-author, and Monica Marabelli, corresponding author of the article, both from the same division – we observed a higher frequency of metaplastic tumors in patients carrying mutations in the Brca genes: 1.2% compared to 0.2% detected in non-mutated patients. We then found that in this subgroup all patients were carriers of Brca1 and none of Brca2. These results confirm that the metaplastic tumor has a clear hereditary predisposition associated with BRCA1. However, these are results obtained on a highly selected series. For this reason – the experts point out – other studies on unselected patient populations with genetic testing are necessary to understand what the true role of the Brca1 gene in the onset of metaplastic breast cancer. It will also be important to study the involvement of other genes in the origin of this rare form of tumor.”
“These results demonstrate that the surgical options for metaplastic tumor could be more extensive, as well as contralateral prophylactic mastectomy”, declares Paolo Veronesi, director of the Ieo Senology Program.
“Certainly – concludes Corso – a lot of caution is needed and, above all, a lot of research still needs to be done on metaplastic tumors. However, as happens with all other rare, often poorly curable tumors, even initial results like ours open up a concrete window of opportunity for treatment and turn on a light of hope for our patients.”
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