“For my tumor, of the triple negative type and with BRCA1 mutation, after mastectomy and after local skin recurrences, I was offered chemotherapy. However, I have read about more targeted drugs based on your histological subtype. Where and how is it possible to undergo genomic tests to establish the best possible therapy? ” (PT)
Probably everyone finds themselves wondering, at least once in their life, if a diagnosis is correct and if they are treated in the right way: with up-to-date tools and the most innovative therapies. The question you are asking is very complex, because in reality the information you are asking, and which you have evidently not found elsewhere, concerns things that are different from each other. But we will try to unravel the problem and answer it so that it can also be useful to other readers of Breast Health.
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Who are genomic tests for
Let’s start with genomic tests, also called genomic profiling tests. First of all it must be said that they are indicated only in patients with the hormone-sensitive type of breast cancer in the initial stage, while they are not for patients who, as in her case, have a triple negative tumor (who therefore do not have the hormone receptors). In patients with hormone-sensitive cancer, we said, in selected cases and after surgery, the oncologist can make use of genomic tests, better identifying who can avoid chemotherapy in doubtful cases.
Breast cancer genomic tests, moreover, have for some months been part of the offer of the National Health System, so they are no longer a privilege aimed at patients with greater economic resources, and any center should be able to offer them, if they are indicated. . These tools, however, are not useful in earlier stages of the disease (as in his case, where progression has occurred after mastectomy).
Then there are the genetic tests
The genomic profile of breast cancer should not be confused with the germline genetic test, proposed to people selected on the basis of specific characteristics, and usually performed through a blood sample. The genetic test identifies BRCA1 (as in his case), BRCA2 and others mutations. The “defective” variants of these genes determine a high risk of getting sick from various cancers and, for those who have already developed the disease, they also provide an important orientation for therapeutic options, both in surgery and in the choice of the most suitable drugs. The histology of the tumor and the presence of the mutation, along with other characteristics of the disease and the patient, guide the treatment path.
Why information on the disease is not enough for a “second opinion”
Here I think it is important to make a consideration. More and more often, as a consequence of the speed with which social media and online newspapers divulge information, patients ask themselves – and ask doctors through the same virtual tools – a sort of “second opinion”, in doubt that there is any possibility of cure. recent has not been considered. It is not easy to explain that this modality is inadequate with respect to expectations and the instrument used. A doctor, in fact, cannot give an opinion based on information, usually far from being exhaustive, provided in an abstract way and in the absence of the indispensable tool that is the doctor-patient relationship, and that is created with the medical examination. This is why we say that “the sick is treated, not the disease”. This is especially true today, where every single tumor has so many variables that they have changed the treatment approach from “standardized” to “personalized”.
How to orient yourself?
The world of therapeutic strategies for breast cancer, in the different phases of the disease, has recently been enriched with both new approaches and innovative treatments such as biological drugs, immunotherapy, molecular targeted therapies – indicated for example for genetic mutations such as BRCA1. In some cases, moreover, the woman can access new treatment perspectives by participating in a clinical trial. One wonders how a patient can orient herself in this jungle of treatment possibilities. Well, the first step – it must be remembered because it is not yet taken for granted in clinical practice – is to go to the “right” place of care: breast unit o Senology Center, where the patient with breast cancer can be guaranteed an integrated and constantly updated multidisciplinary approach, provided by a team of specialists dedicated to the disease: from diagnosis to surgical and medical treatment, from histological examination to psychophysical recovery. In breast units, there is usually also an association of patients to turn to for any kind of support.
Contact the associations
Then there are the “Mother Associations”, such as Europa donna Italia (EDI), which act at national level as a “lawyer” for patients and which guarantee women a series of online supports, including very clear and up-to-date information tools. , through their website. For those in specific clinical situations we also remember associations such as aBRCAdabra and Noi Ci Siamo, respectively for women with a BRCA1, BRCA2 gene mutation (or other rare mutations) and for women with metastatic breast cancer, which offer not only self -help, but also constant updates.
A backpack of resources, so as not to travel alone
Being in the right place and having the right references (both doctors and associations) sets the best conditions for tackling a complex path, without ever being alone with your questions suspended. Global management improves prognosis, reduces anxiety and allows the woman to dispel any doubts about the proposed path. Because every step can and must be explained with clarity and empathy by the specialist team, every doubt can and must be welcomed with precise answers, every support can and must be implemented by the specialist team through the referring doctor, the nurse. senology / case manager, with the presence of the psycho-oncologist and the support of women who put their experience and commitment at the disposal of the “sick sisters”. I think being in the right place with the best tools in hand represents a sort of backpack full of resources that a woman can carry with her during a path of care that is not easy, but at least relieved of avoidable doubts or the feeling of not being at the center of a truly personalized treatment and support path.
* Alberta Ferrari is a breast surgeon of the Breast Unit and Head of Hereditary Cancer Pathway of the IRCCS Polyclinic San Matteo di Pavia Foundation, and is the coordinator of the scientific committee of the aBRCAdaBRA Onlus association.