On the list there are breast and ovarian tumors, but also those of the prostate, pancreas, melanoma and, recent news, also lung cancer: all these tumors may have (in different percentages) a connection with mutations of two genes, Brca 1 and Brca 2, i.e. the so-called “Jolie mutations”, named after the star who revealed she was a carrier. As it was for her, knowing that she has inherited one of these mutations makes a difference to her: both for the treatment and survival of those who have already become ill, and for the prevention of her healthy family members. Yet their knowledge is still very poor.
And this is why a network of 12 patient associations today launched a request to institutions for “BRCA Awareness Day”, asking that it be established on 23 February. Supporting the initiative from overseas is none other than Mary Claire Kingthe scientist who first discovered heredity in breast cancer and the two Brca genes that are responsible for it.
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The appeal
“It is very important to us that in Italy, as already in the USA, there could be an awareness day on BRCA mutations and other similar pathogenic variants – he says Ornella Campanella, president of the aBRCAdabra association (the first founded in Italy for people carrying the Brca pathogenetic mutation), leader of the initiative -. We want to turn the spotlight on: this topic is no longer a niche but a health need. The BRCA test now has an intent that is not only preventive, but predictive of response to therapies. Intercepting healthy people and sick people means giving them treatment options and therefore time to live. The institutions help us.”
“Hereditary” tumors, when to suspect and who to contact
The appeal – signed by associations active in the field of breast, ovarian, prostate, pancreatic, lung and melanoma cancer (Acto, Andos, Apaim, Codice Viola, Europa Donna Italia, Europa Uomo, Loto, Incontradonna, Salute Donna, Salute Uomo and Walce) – follows a video-manifesto launched a year ago by the same network to ask for adequate health policies (and uniform across the territory) for all patients with hereditary tumors and people at high hereditary risk -familiar.
BRCA risk, the video manifesto with patients’ requests to improve care by Tiziana Moriconi 18 November 2022
A new name: King’s Syndrome
On this occasion, aBRCAdabra also relaunched the idea of renaming the hereditary tumor syndrome with that of its discoverer, King’s Syndrome, as had already been proposed in 2019 by Colin Pritchard, professor at the University of Washington, in a comment on the pages of Nature.
The meaning of using his name is, ultimately, the same as establishing a day for BRCA awareness: “To facilitate the language and, consequently, the diffusion of knowledge of the problem related to genetic mutations”, he explains Alberta Ferrari, breast surgeon, head of the hereditary-familial tumor structure at the San Matteo Hospital in Pavia and coordinator of the association’s scientific committee. “Today, in fact – continues Ferrari – the numbers tell us that in 80% of BRCA-related breast cancers and in 60-70% of BRCA-related ovarian cancers, the oncogenetic diagnosis occurs only after the development of the disease. A trend that absolutely needs to be reversed.”
What is health literacy and why it should be taught in school by Tiziana Moriconi 08 December 2023
Beyond the breast and the ovary: sartorial prevention programs
But, as anticipated, BRCA mutations do not only affect female tumors. In men, there are prostate cancers linked to mutations in the BRCA 2 gene, and an Italian study showed that about 8% of pancreatic cancers have BRCA mutations as a contributing cause.
“More recently, there has also been talk of melanoma and lung cancer linked to Brca mutations, although in the latter case we still know very little. In reality, however, today it is thought that for almost all types of tumors there is a percentage of cases linked to BRCA mutations”, he explains Liliana Varescogeneticist of the technical-scientific committee of aBRCAdabra.
Research progress
In the last 30 years, that is, since these two genes were identified, many steps forward have been made: “We have been able to offer genetic tests and prevention paths; we have learned that the risk conferred by these mutations varies from individual to individual depending on the type of mutations even within the same gene, and that the genetic background, i.e. the set of all the other genes, affects this risk. Furthermore, we have observed that environmental factors act together with genetic factors, modulating the individual risk, increasing or reducing it – continues Varesco -. The challenge, therefore, is to be able to develop tailor-made prevention programs for each person with BRCA mutations: to avoid carrying out unnecessary tests and select the most targeted ones, case by case”.
Lifestyle, nutrition and tumors: volunteers wanted for research by Tiziana Moriconi 27 October 2023
How treatment changes in those with mutations
In addition to prevention, we are also talking about personalized therapies: “Today knowing that you have a mutation has a predictive value and modifies the treatment” – explains Laura Cortesi, Head of the Simple Structure of Oncological Genetics at the Department of Oncology of the University Hospital of Modena . “In ovarian cancer, for example, we know that those with the mutation respond better to platinum-based chemotherapy and, above all, respond to therapy with parp inhibitors, which have changed the natural history of this disease”, adds Chiara Cassani, gynecologist-oncologist at the San Matteo Polyclinic in Pavia.
Tumors, what are BRCA mutations
The guidelines
Parp inhibitors are also used today for those with Brca-mutated breast cancer, both in the initial phase (in high-risk cases) and in the metastatic phase. In fact, there are precise guidelines that identify women with breast cancer for whom it is necessary to prescribe genetic tests: all those with triple negative type cancer and some who have a more aggressive hormonal type tumor.
Breast cancer, the treatment changes for those with the “Jolie mutation” by Tiziana Moriconi 30 November 2023
Breaking down the wall of silence
Once the mutated patient has been identified (the “spy case”), it is necessary to ensure that the information passes within the family. Today, Cortesi recalls, only 25% of healthy family members of mutated patients carry out a genetic test: “This is a problem, because the objective is to arrive before the disease arises.
Jolie mutation, removing the ovaries reduces mortality more than other strategies by Tiziana Moriconi 06 October 2023
The importance of a day to raise awareness on the topic
Hence, again, the importance of establishing a BRCA Awareness Day: also to “break down those walls of silence that still exist within families”, underlines Elisabetta Razzabonipsychologist and psychotherapist at the Polyclinic of Modena: “We need to develop a collective conscience so that the family history of cancer is not seen as a sword of Damocles, but as a real tool. In this regard, it is very important that women who develop cancer in their breast or uterus share with the doctors if there have been cases of other tumors in the family, especially pancreas, prostate, melanoma and lung, even in the paternal line of descent”.
Usually, in fact, we only think of the maternal one, as if the mutation were inherited only from the mother. This is not the case: fathers can have the mutation and pass it genetically to their offspring in the same way. “We must ensure – concludes Razzaboni – that our biology can change our biography for the better”.