Ovarian cancer and gene mutations. What are the modern methods of treatment?

– For ovarian cancer, we do not have any tests to detect a precancerous condition or cancer at an early stage. If it happens that the doctor diagnoses the early stage of the disease, it is by chance. The patient has no symptoms and undergoes a routine examination – says Dr. Anita Chudecka-Głaz from the Pomeranian Medical University. What are the treatment options for the disease today in medicine?

1. As ovarian cancer develops, remissions are shorter and more frequent relapses. However, we managed to introduce new therapies into treatment, which significantly extend the periods free from disease symptoms – explains Prof. Chudecka – Boulder
2. A cancer cell grows when the body makes mistakes in its genetic code. If our BRCA1 gene is working properly, it produces a protein that can repair these errors. In patients with ovarian cancer, this gene is damaged, the doctor explains
3. As he adds, BRCA1 and BRCA2 mutations occur in approximately 30 percent. sick, in another 20 percent. we are dealing with other genetic disorders
4. More information can be found on the Onet homepage.

Statistics show that ovarian cancer is the worst gynecological neoplasm. On the other hand, we hear more and more often that it is a chronic disease. How can you comment on that?

Our thinking about ovarian cancer has changed over the years. It is a disease characterized by periods of remission and relapse. As it develops, remissions are shorter and relapses more frequent. However, we managed to introduce new therapies into treatment, which significantly extend the periods free from disease symptoms. Thanks to them, patients live in better comfort and live longer. When they hear after their diagnosis that they have many years of treating a severe but chronic disease ahead of them, their attitude changes. The word “chronic” becomes a light at the end of the tunnel and gives you a little bit of optimism.

Do we know the causes of ovarian cancer?

In fact, for the majority of patients, we are unable to establish these causes. Only some of the cases have a genetic background and then we can conclude that a mutation in the BRCA1, BRCA2 or other genes is responsible for the development of the disease.

Is this why even women who care about their health and undergo preventive examinations also develop ovarian cancer?

This is what it looks like. We are unable to carry out screening tests that allow us to detect the disease in the pre-cancerous or early stages of the disease. This is the case, for example, in the case of cervical cancer, when we can diagnose dysplasia and by treating it, prevent the development of a malignant tumor.

For ovarian cancer, we do not have any tests to detect a precancerous condition or cancer at an early stage. If it happens that the doctor diagnoses the early stage of the disease, it is by chance. The patient has no symptoms and undergoes a routine examination.

Of course, doctors are constantly trying to diagnose ovarian cancer early by performing an ultrasound scan or by labeling for tumor markers, or a combination of both. Unfortunately, the results do not provide any basis for treating these methods as effective screening.

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What is the correct treatment schedule for ovarian cancer?

The most important thing is that the patient is placed in an appropriate center at the beginning of treatment. This moment is decisive for the course of therapy. Another element is good diagnostics that will allow us to assess the stage of the disease. Without it, we should not decide to undertake surgical treatment, which is the next stage.

This may be cytoreductive surgery followed by chemotherapy or diagnostic surgery, during which we collect material for histopathological examination, refer the patient to three or four courses of chemotherapy, then secondary cytoreductive surgery and subsequent cycles of chemotherapy.

Until recently, it was a standard procedure and we ended our treatment there. Today we use supportive care. In Poland, this therapy is reimbursed only in some patients, although we believe that each patient who has completed the first line of treatment should receive maintenance therapy with a PARP inhibitor.

What are the gene mutations that the Professor talked about earlier? For patients, this is complicated knowledge …

Each of us has genes whose job is to code a protein. The task of the undamaged, unmutated BRCA1 gene is to code for a protein that is involved in repairing DNA damage.

A cancer cell grows when the body makes mistakes in its genetic code. If our BRCA1 gene is working properly, it produces a protein that can repair these errors. In patients with ovarian cancer, this gene is damaged and there is a mutation, as a result of which it does not produce the correct protein that protects against the development of cancer.

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These mutations can be germinal or somatic in nature. In the first case, we inherit the mutation from our parents and pass it on to our children. Somatic mutations, in turn, arise during our life, are not hereditary and only occur in the tumor.

How many patients have these mutations?

BRCA1 and BRCA2 mutations occur in approximately 30 percent. sick, in another 20 percent. there are other genetic disorders that lead to the development of ovarian cancer.

How can we check if our genes have mutated?

It is not that every healthy woman who has no genetic burden should undergo a genetic consultation. Of course, he can do it for a fee, but there are no clear indications for this. However, all patients with ovarian cancer should have these tests performed. It should take place during surgery, these are special procedures reimbursed by the National Health Fund.

It is a genetic test from tumor tissue collected during the first operation and each patient should undergo it. But it is not everything. In addition, if during a routine visit, during the interview, the gynecologist hears that the family of a healthy woman has cases of ovarian, breast, colorectal or prostate cancer, he should refer her for a genetic consultation, during which a specialist will decide whether and what genetic profile. should be performed.

What are the statistics for these studies?

Unfortunately, the statistics are not optimistic. Szczecin, where I live, thanks to the actions of a great supporter of genetics, prof. Jan Lubiński, is certainly at the forefront in this respect. However, national data indicate that the examination during the first operation is performed only in every third patient. That is, 7 out of 10 patients at an early stage of treatment are not tested for BRCA1 / BRCA2 mutation.

Until recently, this did not affect certain stages of treatment because we used these studies to treat relapses. Apart from that, it was always possible to make additional copies of the survey at a later time, using the one downloaded earlier

and specially stored material. Now the situation has changed dramatically.

From May 1, one of the PARP inhibitors was on the reimbursement list for the treatment of patients right after the first-line chemotherapy. Therefore, it is extremely important to know the patient’s molecular status as early as possible and not miss the moment of introducing optimal supportive treatment.

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Let us clarify: PARP inhibitors, which according to specialists are a boon for patients, are available only to patients with mutations of the BRCA1 / BRCA2 genes …

Registered, i.e. they are available to all patients, regardless of the stage of the disease and molecular status, but reimbursed only for those with the mutation. Until recently, only in the treatment of recurrent cancer, from May 1 also in the case of newly diagnosed ovarian cancer.

A small step taken. What’s next? What can we do to ensure that PARP inhibitors, thanks to which patients can live normally, are reimbursed in all cases of ovarian cancer?

Patients treated with PARP inhibitors actually lead a normal life, work, go on vacation, and enjoy family life. Until recently, it was different. We count on the support of patient organizations, and the national consultant is also fighting. Everyone wants proven and effective drugs, which are a real breakthrough in the treatment of ovarian cancer, to be reimbursed for all patients.

How do you see the role of reference centers where the best specialists work and women are treated comprehensively?

Unfortunately, Ovarian Cancer Units do not function with us yet. For ovarian cancer, there is nothing worse than distracting treatment. There are several stages of treatment, it is important that the patients are under the constant care of one center so that they do not waste time traveling from doctor to doctor. Such centers are the future, but we will do our best not to make it too distant.

What would your wishes be regarding this group of patients?

I wish that we could treat our patients as effectively as it is done in other countries. Therefore, we are trying to reimburse maintenance treatment for all patients. I would like us to have access to the most modern therapies, and I would like my patients to go to the best doctors in excellent centers.

Thank you for the conversation.

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