(by Nicola Simonetti) Effect Angelina Jolie, the actress who, after discovering that she is a carrier of a genetic mutation, has chosen to undergo preventive surgery for the removal of breasts and ovaries, possible sites, for her, of future cancer.
Only mistake, having first removed the breast and after the ovary (the one that manufactures hormones). The opposite should be done. However it was, his, a useful, laudable message.
A warning for its co-generators and for the health organization that are slow - each in its own way - to generalize the genetic test that allows, today, to identify people, or entire families, at high risk of cancer and allow preventive intervention or with innovative therapies aimed at patients with mutated genes.
Every woman who finds out that she has ovarian cancer must perform the test and, in the case of the discovery of the mutation of the BRCA 1 gene and 2 for breast cancer and, in particular, the ovarian tumor for which there is no early diagnosis. This examination must be extended to family members.
Every year, in Italy, 5.000 women receive a diagnosis of ovarian cancer but the research of the mutated gene is practiced only in 62,5% of cases, despite its great predictive and therapeutic value.
The complaint is made in the continuing professional training course, with non-conditioning support of AstraZeneca and MSD, from the Master of Scientific Communication at the La Sapienza University of Rome, Rome.
"The same women - says prof. Sandro Pignata, director of medical oncology of the "Pascale" cancer institute, Naples - are not aware of this need-necessity that has a great influence on the early recognition of ovarian cancer and in allowing patients who carry the mutation to receive particularly effective drugs, as has demonstrated maintenance therapy with olaparib, a PARP inhibitor (oral administration) that reduced the risk of progression or death of 70% in patients with newly diagnosed and advanced ovarian cancer with BRCA mutation. Such a step is useful to understand not only who could benefit from olaparib treatment, but also to study the families in which these mutations are inherited.
Inactivating PARP, damaged DNA fragments accumulate in the nucleus of the cells, with consequent stunting of growth and cell division, up to the death of the tumor cells and only of these, in the absolute respect of healthy cells.
Ovarian cancer is an insidious disease that, in 80% of cases, in the absence of specific symptoms, is diagnosed in 3 ° -4 ° stage, a tumor already spread to the peritoneum for which mortality remains high.
Nonspecific symptoms, however, which, if appropriately evaluated could pose the suspicion of an ovarian tumor. Today, unfortunately, 8 of these cancers (every year, 5.000 cases and 3.000 deaths in Italy with modest improvements over the years) are diagnosed at their advanced degree (3 ° -4 ° degree) when there is already neoplastic dissemination to the peritoneum ".
It is therefore necessary to impose prevention that is recognized only in the possibility of identifying families at risk, those, that is, in which the neoplasm manifests itself due to a hereditary predisposition, linked to a mutation of the BRCA 1 and 2 genes.
"It is not acceptable - says Nicoletta Cerana, president of ACTO Onlus - that, for one woman in three, the path of the test remains difficult"
"The assessment of the mutational status of BRCA in patients with ovarian cancer - says Giovanni Scambia (" Agostino Gemelli "University Polyclinic in Rome - has a fundamental role, not only for the identification of the family predisposition to cancer, but also for directing the choices therapeutic and surgical approach.
A few decades ago, we passed from an (almost) certain diagnosis-condemnation to recovery / slowing of progression. A reality that he defined as “moving”.