In the presence of cancer (breast, ovarian, pancreatic, or prostate cancer), mutation testing is necessary to determine the correct treatment strategy. For example, if mutations are found in the BRCA1 and BRCA2 genes, this means that there is an increased sensitivity to certain chemotherapy drugs. That is, besides the fact that we predict the risks, we also determine the tactics of treatment for an already existing oncological disease. Are there any specific mutations characteristic of Russians? There are always mutations that are more common in a particular population. In Russia, a screening study of the BRCA1 and BRCA2 genes was carried out, which showed that the Russian population of Slavic origin is characterized by the eight most frequent mutations of these genes. In other populations, the frequency distribution of these mutations will be different.
If a person is found to have this mutated gene, will he have to undergo therapy all his life in order not to develop cancer? There is no such therapy. After a certain mutation has been found, you will be given an individual plan for medical examination and prevention. It depends on the patient, age, and clinical situation. There is a specific list of actions. For example, if we are faced with a mutation in the BRCA1 / 2 genes, the patient has been advised to self-examine the mammary glands at least once a month; consultations with a gynecologist and mammologist once every 6-12 months. As prescribed by a doctor, such patients are sent for mammography and ultrasound of the pelvic organs. Male carriers are advised to undergo an annual breast examination from the age of 35. From the age of 40, it is advisable to perform a screening examination of the prostate gland. Such prevention not only makes it possible to diagnose the disease at an early stage,
Is cancer in the human genetic code forever, for all subsequent generations? If the gene with the mutation is not inherited by children, then at this stage the transmission of the mutation will be stopped. But the occurrence of oncological diseases can occur without taking into account hereditary factors – this must also be taken into account. Can these genes sit for generations and not manifest themselves? They can. Hereditary forms of oncological diseases have a high degree of penetrance manifestations approx. but not one hundred percent.
With age, the risk of developing the disease increases. For example, in people with a mutation in the BRCA1 gene, by the age of 70, the likelihood of developing breast cancer reaches 70 percent, ovarian cancer – 40 percent. With a mutation in the BRCA2 gene, the likelihood of breast cancer – up to 50 percent, ovarian cancer – up to 18 percent.We were completely unprepared for 3/11. Not only from the point of view of technical means – our entire system at all levels was not prepared. This was the main problem
Around the same time, a group of independent scientists released a report stating that the response of the authorities and TEPCO to the accident at the nuclear power plant was disastrously disastrous. Discussions of even critical measures like supplying seawater to cool reactors could drag on for hours. Also, normal communication was not established between the government, TEPCO top managers, and the NPP management, and bureaucratic obstacles only created unnecessary tension.
The Myth Of Absolute Security
The lack of preparation of the Japanese for an accident at a nuclear power plant is explained by the myth of the absolute safety of nuclear power. In the 1950s, when the country’s authorities first thought about building nuclear power plants, the memories of the horrors of the atomic bombing of Hiroshima and Nagasaki were still fresh in the memory of the country’s citizens – and therefore the use of nuclear technology, albeit for peaceful purposes, would inevitably face a barrage of criticism. and caused panic among the population. Then the supporters of nuclear energy from the political and business elite began to convince the public that nuclear power plants are completely safe.
In the end, they managed to persuade public opinion in their direction, but the myth of absolute security played a cruel joke with them – they themselves believed in it.
In pursuit of a new source of energy, the Japanese authorities “imported” American nuclear power plant projects. However, they did it completely without taking into account their own natural and seismic conditions. The accident at the Fukushima nuclear power plant was a direct consequence of this irresponsible approach.
The fact is that the initial design of the power plant from the American company General Electric took into account tornadoes that often happen in the United States. Because of this, emergency generators were located in basements. In Japan, tsunamis are much more common – as a result, they flooded the basements. And the generators that could have prevented the catastrophe were out of order.
In a sense, humanity was “lucky” during the accident at the Fukushima nuclear power plant. By a lucky coincidence, a worst-case scenario was avoided, in which the catastrophe would reach the scale of Chernobyl, and radioactive emissions would continue for a whole year. Otherwise, the Fukushima exclusion zone would not stretch for 20-30 kilometers, but all 170 kilometers. The entire multi-million population of Tokyo, located only 220 kilometers from the nuclear power plant, would have to be evacuated.
The Long Road To Recovery
10 years after the disaster, Fukushima is gradually recovering. The authorities allow residents of the abandoned cities to return home, and they are already organizing tourist trips to the local exclusion zone, like the Chernobyl one. On March 25, 2021, the Olympic torch relay starts from the football stadium in Fukushima, where the liquidators of the accident were based until recently. Olympic baseball and softball competitions will take place just 70 kilometers from the emergency station. On Japanese shelves, you can increasingly find products from Fukushima, for example, a beer based on the premium variety of tomatoes for which the prefecture was famous before the disaster – there is almost no trace of the former stigma.
Nevertheless, there are still cities in Fukushima, in which you can only be in the daytime and protective suits, and nature has taken its toll: grass and trees have sprouted through the asphalt and concrete, and bears literally walk along the streets. “I still hope to return to my homeland, although I know the chances are slim,” sighs elderly Soichi Saito, who fled his hometown after the disaster. – The government has assured us that the nuclear power plant will do us good. And when the accident happened, they didn’t know what to do. I’m sad. I am devastated. ”
But returning home is not always a joy. A decade of evacuation by residents has completely changed the way of life and the atmosphere in the coastal town of Namie, which was recently completely rebuilt after the tsunami. Masaru Kumakawa says that before the disaster, everyone literally knew each other, could invite a passer-by to dinner, and were not afraid to leave the doors to their houses open. Now people do not even know their neighbors by name. The BRCA1 or BRCA2 genes are inherited in an autosomal dominant manner. That is, one copy of the gene is broken, and the other fully fulfills its functions. But for an oncological disease to occur, the second gene must also be inactivated. The BRCA1 and BRCA2 genes belong to the homologous recombination gene family – they are involved in the process of repairing damaged cell DNA. If this function is violated, then the damage such a possibility exists, but it is small. We have not encountered cases of simultaneous breakdown of two genes. Are there any statistics on cancer that could have been prevented if a person had been checked on time?
Prevention allows you to diagnose the disease at an early stage, not prevent it. And if we are dealing with hereditary diseases, of course, it is better to identify the predisposition in time and engage in prevention. Not only mutations in the BRCA1 and BRCA2 genes are involved in the occurrence of various diseases and syndromes, but other genes can be damaged. 5-10 percent of cancers are hereditary: 5-10 percent – breast cancer and up to 17 percent – ovarian cancer. The emergence of the latter two is associated with mutations in BRCA1 and BRCA2. In pancreatic cancer, about 10 percent of cases can be hereditary. In this type of cancer, mutations in BRCA1 increase the risk of the disease by about three times, and in the case of BRCA2, about six and a half times. With prostate cancer, mutations in the BRCA1 and BRCA2 genes are present in 1.5-2 percent of patients, and the risk of prostate cancer in carriers of these mutations may also increase.
What factors increase the risk of cancer, and what to do if you know that a close family member has had cancer? This is mainly age, family history, the presence of comorbidities, and unfavorable environmental conditions. It is necessary to undergo medical genetic counseling to collect family history. What is needed to reduce mortality from these causes? This is, first of all, discipline and awareness that it is necessary to undergo annual medical examinations at least from 30-35 years old. Currently, the level of diagnostics allows detecting the disease at an early stage. Fluorography, CT, mammography, endoscopy, cytological screening in gynecology, and so on are aimed at identifying hidden symptoms.
Early diagnosis is one of the main problems in oncology. A lot of research work is now underway that is aimed at finding markers of the early development of asymptomatic cancer. Molecular tests are being developed that determine diseases at a stage when there are still no clinical manifestations of the disease and no methods of functional and clinical diagnostics can reveal it. There have appeared works of foreign scientists on the identification of early markers of cancer in the blood, but so far these works have not entered into everyday clinical practice. Are there any positive changes in the field of oncological care? A large number of studies have been included in the compulsory medical insurance program, which allows people with cancer to receive molecular genetic diagnostics and determine individual treatment tactics. When implementing national projects, a large amount of modern equipment is purchased for national centers and hospitals, where patients with cancer can be examined and treated.
At what age should you start getting tested? It is unlikely that this should be done from childhood. Children under 18 years of age do not need to be tested for hereditary mutations because there are no effective preventive measures for children. After 18 years, you need to contact a geneticist who will assess the risks, collect the necessary family history, send for genetic testing and draw up an individual plan of preventive measures. Is it paid – or will insurance pay for an appointment with a geneticist? Screening for the presence of hereditary mutations for cancer patients is included in the territorial compulsory medical insurance program. Screening and medical genetic counseling of conditionally healthy patients is paid for.