Angelina Jolie Did It, But I Can't

Angelina Jolie did it, but I can't

An action has started in Russia to draw attention to the hereditary risk of certain forms of cancer in women. The chance of passing on the BRCA genes responsible for ovarian cancer to children is 50%. And hereditary-related cancers appear earlier and more aggressively. Therefore, knowledge about the carriage of the fatal gene can save many lives, experts say.

Photo: zzhgiluchsveta.rf /

An action has started in Russia to draw attention to the hereditary risk of certain forms of cancer in women. The chance of passing on the BRCA genes responsible for ovarian cancer to children is 50%. And hereditary oncological diseases appear earlier and proceed more aggressively. Therefore, knowledge about the carriage of the fatal gene can save many lives, experts say.

On April 10, the all-Russian social campaign # LIGHT UP was launched , the purpose of which is to draw the attention of women to ovarian cancer and tell about the possibilities of determining the hereditary risk of developing ovarian and breast tumors. In Russia, ovarian cancer ranks third in morbidity and first in mortality among all cancers of the female reproductive system. About 13 thousand women hear this diagnosis every year. Moreover, most cases are diagnosed at a later stage.

Fatal mutations

According to the chairman of the Russian Society of Clinical Oncology (RUSSCO), head. Department of Clinical Pharmacology, Russian Cancer Research Center. Blokhin Sergei Tyulyandin, the presence of mutations in the BRCA 1 and BRCA 2 genes, which can be detected by molecular genetic testing, is due to about 15% of ovarian and breast cancer. At the same time, the problem of hereditary cancer itself is broader: carriers of "broken" genes are 5-10% of patients (regardless of their gender) with pancreatic cancer and men with prostate cancer. For the same reason, breast cancer occurs in men. Healthy men who carry BRCA mutations are more likely to pass them on to future generations.

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But if the same breast cancer can be “caught” at the very beginning, then the first symptoms of an ovarian tumor appear already in the late stages, Tyulandin said. And knowledge about hereditary predisposition would allow more careful consideration of healthy women at risk. In addition, patients with BRCA gene mutations require different treatments than those with sporadic (non-heritable) disease.

Tyulandin told about a recent case from his practice, when a thirty-year-old woman and her mother had to be treated at the same time. The mother was diagnosed and treated with breast cancer twenty years ago. But then no one wondered why she fell ill at such a young age. When, many years later, she was diagnosed with ovarian cancer, the doctors already understood that she had a predisposition and after testing the patient, they found her BRCA gene mutation. Her daughter's examination showed both the mutation and early breast cancer. The young woman already had a child, and, given the risk of aggressive development of the disease, her breast affected by cancer was removed and, for preventive purposes, healthy. However, she remains at risk of developing ovarian cancer at an older age.

“The chance of passing on BRCA genes to children is 50%,” said Tyulandin. - And in order to minimize the risk of ovarian cancer in such families, they must be examined. Knowing about the carrier state, we make recommendations about an earlier start of screening, passing annual examinations."

Genetics is an exact science

According to the chief freelance geneticist of the Ministry of Health, director of the Medical Genetic Research Center (MGNTs) Sergei Kutsev, today, more than seven thousand diseases associated with hereditary pathology are known. However, pathogenetic treatment is available for only 200 of them. And today, the main direction of medical genetics is prevention, accurate diagnosis, the fact of carriage and calculation of the risk of developing a hereditary disease. “Genetics is an exact science,” said Kutsev. - There are mathematical methods of calculations. We can get quantitative data, and then oncologists will propose preventive measures."

As for mutations in the BRCA genes, they can be detected using molecular genetic testing. These genes play a very important role - they protect against violations of DNA molecules that carry and transmit genetic information, the expert said. At the same time, DNA is a structure that is subject to constant changes, and the BRCA genes are involved in correcting the resulting defects. In the case of breakdowns of these genes themselves, there is a predisposition to some types of cancer.

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In federal institutions - the Moscow State Scientific Center, as well as in the Research Institute of Medical Genetics in Tomsk - DNA diagnostics for the determination of seven mutations in the BRCA1 gene and one more in the BRCA2 gene in people with hereditary pathology and suspected carriage are carried out free of charge. Such analyzes are also done by commercial laboratories (prices are not exorbitant - about 4-5 thousand rubles). The main thing is that women can understand when it is necessary to do such an analysis. “Of course, there will be more rare mutations that are not detected in this test system,” said Kutsev. - And the way out here is in sequencing, that is, in full reading of the genome. It is expensive, but it is also possible in federal centers. True, more compelling reasons are needed for this - serious family cases."

Promotion # IGNITION

Within the framework of the # ZIGILUCHSVETA project, an information website was launched, where every woman can learn about the problem in detail, take a simple seven-question test to determine the hereditary risk of developing ovarian cancer and, if it is increased, get the opportunity to free molecular genetic testing. Based on the testing results, patients with identified BRCA gene mutations will be offered a brochure with recommendations developed by experts from the Russian Society of Clinical Oncology, as well as the opportunity to receive additional information from oncogenetic specialists participating in the project.

While we are talking about one thousand free analyzes, which can be done in 50 cities of the country. However, according to Tyulyandin, this is not so little: no more than 5% of women who have passed the questionnaire will need a genetic study. In addition, the initiator of the project - the biopharmaceutical company AstraZeneca - does not exclude the expansion of the scope of the action. But the main thing, experts emphasize, is to draw the attention of healthy women to a possible problem and take regular examinations more seriously.

Prison for operation

Irina Borova, a mother of seven children, said the president of the Hello! Cancer Patients Association, in European countries and the United States, girls with a mutation in the BRCA gene are examined without fail every six months. “There are a lot of mutation carriers in our country, and the state should take care of what to do with these people,” Borovova said. - A thousand rubles, spent every six months for the examination of a healthy girl or young woman, is not the millions that are required for the treatment of a patient at an older age. Besides, the lives of these girls are at stake.”

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Borovova also spoke about her personal experience of surviving with BRCA gene mutations. According to her, the early stage of breast cancer was discovered in her by accident, and at first the dispensary planned to confine herself to the removal of the smallest tumor. However, examination at the Russian Oncology Center. Blokhin discovered a breakdown in the BRCA gene. The treatment consisted of removing not only the diseased breast, but also the healthy one, the risk of cancer of which was 90%. In addition, she underwent a full course of chemotherapy, including targeted chemotherapy.

“Now I have a high probability of ovarian cancer, which is difficult to catch at the initial stage,” said Borovova. - But not a single oncologist can remove my ovaries - for this he faces prison. We need to sound the alarm. After all, these are my organs, I have already given birth to seven children and have reached the age of menopause, but I am not eligible for preventive surgery. Angelina Jolie did it, but I can't."

According to Tyulyandin, in the future, drugs may appear that effectively reduce the risk of cancer in carriers of mutations. In the meantime, oncologists mainly rely only on surgical technologies. “We are talking more and more about preventive surgeries that can actually reduce the risk of disease in carriers by 85% and are already being done all over the world,” the expert said. - Unfortunately, removal of ovaries for preventive purposes is still not allowed in our country. Although such operations are indicated for women after 50 years (at a young age, ovarian cancer is a rarity), when the hormone-producing organs are already extinguished, and their loss does not cause much damage, they are prohibited in Russia. And I hope that the expansion of testing will identify more potential victims and force our legislators and regulators to allow such transactions.”

And if it's not genes

Meanwhile, genetically determined breast and ovarian cancers account for about 15% of cases, and we must not forget that there is also sporadic cancer, experts remind. Therefore, simple advice that you need to lead a healthy lifestyle, regularly observe a gynecologist and run to the doctor if weakness persists for a long time and a condition that falls outside the usual framework has not been canceled. “There is no effective screening for ovarian cancer, and attempts to create one have not yet been crowned with success. But those women who, fortunately, are not carriers of mutations, should see a gynecologist at least once every six months,”Tyulyandin recalls.