Angelina Jolie gene. About Angelina Jolie's childhood or tattoos of emotionally labile personalities

The Angelina Jolie effect (genetic test and breast removal surgery)

PHOTOGRAPH BY MELODIE MCDANIEL / TRUNK ARCHIVE

http://www.time.com

In the last few days, there has been a media frenzy over the latest news about the operation of popular Hollywood actress Angelina Jolie. To comment on the situation, we turned to Dmitry Anatolyevich Voskresensky, a specialist at the Personal Doctor clinic.

Dmitry Anatolyevich is a leading specialist oncologist at our medical center, as well as an assistant at the Department of Oncology at the St. Petersburg State Pediatric Medical University. From 2003 to 2008 D.A. Voskresensky conducted research work on the study of hereditary predisposition to breast and ovarian cancer at the Oncology Research Institute named after. N.N. Petrova.

- Dmitry Anatolyevich, do you think Angelina Jolie has gone crazy if she decided to remove her mammary glands?

I guess not. She had very good reasons for this: the results of a genetic test for mutations in the BRCA1 gene. Apparently, Angelina Jolie was diagnosed with a mutation in this gene. Which leads to an almost fatal chance of developing breast and ovarian cancer during your lifetime.

- What kind of gene is this scary?

This gene is not scary at all, and moreover, it is very useful and is found in all people. It is normally responsible for DNA repair processes in our cells. The fact is that all the genetic material of our cells is located in the DNA molecule; it ensures the vital activity of every cell of our body. However, as a result of some influences such as ionizing radiation, chemical carcinogens that can affect our body from environment may cause DNA damage.

This damage accumulates and can lead to the degeneration of the cell and its transformation into a tumor cell, which multiplies and leads to the development of a malignant tumor.

Everything would be even worse if our body did not have a powerful DNA repair system. An important part, which is the BRCA1 gene. During its work, DNA damage that occurs accidentally is restored, and the cell does not turn into a tumor cell.

- So, in the end, a healthy person can get cancer?

Yes. But, as a rule, in old age, when the amount of carcinogenic factors and DNA damage significantly exceeds the capabilities of the DNA repair system. If we see that a woman gets breast cancer at the age of less than 50 years, we can assume that she has a hereditary predisposition to this.

-Why is everyone afraid of this gene?BRCA1?

We need to be afraid of mutations in this gene. Hereditary (congenital) damage, which leads to the fact that this gene does not work and therefore the entire system for repairing DNA damage does not work satisfactorily.

There are people among us who have inherited the BRCA1 gene from their parents, which has a defect or mutation. Very often this is the mutation “BRCA1 5382 ins C”.

Given genetic defect most dangerous for women, as it increases the likelihood of developing breast cancer up to 90%, and ovarian cancer up to 60% throughout life. There are often situations when one patient develops both malignant tumors over a period of time or bilateral (bilateral) breast cancer.

For men, mutations in this gene are practically harmless. According to the literature, prostate cancer can sometimes occur in men as a result of a BRCA1 mutation.

- So how is a mutation in this gene transmitted from the father or from the mother?

BRCA1 mutations are transmitted equally from both mother and father, depending on who is the carrier. The probability of transmission is 50%, i.e. You can get either a healthy gene or a diseased one from either parent. Here the situation is this: some of the children of parents with the BRCA1 mutation will be lucky, but others will not and will inherit this defect.

- So it turns out that Angelina Jolie was unlucky, and she received a mutation in the gene BRCA 1 from one of the parents?

- I came across information in the press that Angelina Jolie's mother Marcheline Bertrand fought with ovarian cancer for almost ten years and died at the age of 56. It is almost certain that Angelina Jolie inherited the BRCA1 mutation from her mother.

-So why did Angelina Jolie decide to undergo surgery to remove the mammary glands?

The fact is that in the European Union and the USA, preventive operations on the mammary glands in the presence of a mutation in the BRCA1 gene are standard medical care and are recommended to all carriers of this genetic defect.

Moreover, this operation is carried out healthy people who have not yet developed cancer. It is called prophylactic skin-sparing mastectomy. In this operation, only the gland tissue is removed, but the skin and nipple are left behind. And between pectoral muscles a silicone endoprosthesis is installed. So it's surgery very similar to conventional mammoplasty, which many women in Russia already perform in order to enlarge or “tighten” the mammary glands. The difference is minimal. The only difference is that during preventive surgery the glandular tissue to reduce the chance of breast cancer, which replaces breast tissue with more silicone endoprosthesis, and with conventional mammoplasty the tissue is left and therefore the endoprosthesis is used in a smaller size.

-So it turns out that Angelina Jolie didn’t lose her breasts?

Yes and no. She's lost her breast tissue and will never be able to breastfeed. breast milk child. However, I want to please fans of Angelina Jolie’s beauty: I think that some time after the operation she will be able to pose in a bikini. Only subtle scars axillary areas will issue the transferred this strong woman operation.

- Dmitry Anatolyevich, please comment on the information that after the operation, the risk of developing breast cancer in Angelina Jolie did not decrease to zero and is 5%?

Indeed, studies have shown that during such preventive operations the risk of developing breast cancer is 4-5%. This is due to the fact that during the operation it is impossible to remove all breast tissue 100%; some tissue remains and this leads to low probability tumor development. At the same time, this risk of 5% is lower than the risk of breast cancer in an ordinary woman (10-12%), because breast cancer is the most common cancer in women.

-What to do with high risk ovarian cancer in carriers of mutations in the gene BRCA 1, Angelina Jolie?

As for breast cancer in this category of patients, they often get sick in at a young age middle age according to the Research Institute of Oncology named after. N.N. Petrova is 44 years old. We studied 100 women with the mutation who became ill between the ages of 26 and 80 years. It turned out that these patients get sick for an average of 9 years used to have cancer breast than women without the mutation. For ovarian cancer, it has been noted that in carriers of BRCA1 mutations it occurs more often during the postmenopausal period. Those. when menstruation stops and ovarian function declines. During this period it is recommended to carry out preventive removal ovarian cancer to prevent the development of ovarian cancer in women with a BRCA1 mutation. The operation is performed using laparoscopic technology and the scars are minimal.

I believe that Angelina Jolie will have her ovaries removed after menopause.

-Are similar operations carried out in Russia?

Yes, sure. Similar operations are performed in St. Petersburg. However, before the operation it is necessary to undergo full examination, including genetic analysis. Unfortunately, in the USA and the European Union these operations are paid for by insurance companies, but in Russia the patients themselves pay for them.

Where can I get a mutation carrier test? BRCA 1 and predisposition to breast and ovarian cancer and get advice?

Testing for mutations in the BRCA1 gene can be done at the Personal Doctor clinic. Address St. Petersburg, Bolshevikov Ave., building 30, building 2. Clinic telephone numbers: 970-70-37 and 370-70-37. To perform a genetic analysis, it is necessary to donate blood from a vein. Moreover, blood can be donated in the morning and evening, and even after meals.

Counseling on predisposition to breast and ovarian tumors is also provided in medical center“Personal Doctor” after. We usually recommend that patients first come for a consultation, where we conduct a questionnaire and collect information about cancer cases from relatives, after which we issue a referral for genetic testing. Immediately at the appointment, you can perform an ultrasound of the mammary glands and conduct an examination for the presence of an existing malignant tumor.

After receiving the test results, we invite you for a second consultation based on the results of the cancer predisposition test.

Who needs such an examination?

First of all, this is necessary for all women who have blood relatives in their family who have had cases of breast and/or ovarian cancer.

At the same time, mutations can also be transmitted through the male line, and men are often only carriers and do not get sick. Therefore, BRCA1 mutations occur even in women who have no relatives with malignant tumors.

In conclusion, I would like to add that in Russia and even in St. Petersburg there are very few specialists in this field of medicine, which is why we see in the media large number comments from doctors who have a very vague understanding of issues related to hereditary forms cancer, genetic predisposition, examination of this group of patients.

Angelina Jolie's decision to undergo a prophylactic double mastectomy and remove her ovaries due to a high risk of developing cancer caused an unprecedented public outcry. Some still admire the actress’s courage, others accuse her of suspiciousness and alarmism.

In 2013, Angelina Jolie shocked the whole world by announcing that she had decided to undergo a preventive mastectomy - that is, breast removal. The actress announced this news in her essay “My Medical Choice,” published in The New York Times. Angie's mother died at the age of fifty-six from ovarian cancer. After genetic testing, the celebrity learned that she had inherited the BRCA1 gene from her parent, which increases the likelihood of developing breast cancer to eighty-seven percent, and ovarian cancer to fifty percent. Jolie had her mammary glands removed and had them reconstructed with nipple-preserving implants. Oophorectomy (a procedure to remove the ovaries) took place a little later - already in 2015.

The majority of Western doctors approved of both decisions of the celebrity and gave her credit for popularizing genetic testing and showing by her own example that in order to save a life one should not be afraid of the most radical measures. Since then, American women have begun to find out en masse whether they have the BRCA1 gene, and this phenomenon has been dubbed the “Jolie effect.”

Preventive mastectomy: justified or not?

Dmitry Melnikov, candidate medical sciences, plastic and reconstructive surgeon, agrees with Western colleagues: “Preventive mastectomy has begun to gain momentum thanks to the development of genetic tests. They show that in some cases it is possible to predict the development of cancer and identify genes that are associated with a high risk of developing cancer.”

Dmitry notes that the popularity of this type of operation is a feature of US medicine: “American insurance companies They pay for reconstruction using implants. This is why this market is very large, and surgeons often remove breasts according to medical indications to then reconstruct it with implants. Of course, there is another meaning too. If a mastectomy was performed on one side, but not on the other, it is very difficult to achieve aesthetics later by restoring the second breast. In this case, there is an option to remove the healthy mammary gland and then reconstruct both - it will be much more beautiful.”

Vladimir Kalyadin, doctor - mammologist-oncologist at KB MEDSI in Botkinsky Proezd, is more skeptical about preventive mastectomy. The doctor reasonably notes that removing a breast is the easiest thing to do, but preserving it is much more difficult. And Dr. Kalyadin, of course, can be understood: during his practice, he has more than once encountered women who underestimate the importance of visiting a doctor until the situation becomes critical.

“It’s a matter of responsible attitude towards own health: a preventive examination by a gynecologist and mammologist must be performed at least once a year. Breast cancer can be successfully treated, especially if the tumor is found on early stage", says Vladimir.

Dr. Kalyadin confirms that some women own initiative get tested for genetic predisposition to breast cancer, like Angelina Jolie. In thirty percent of cases, according to the results of the study, the presence of a risk of developing cancer is confirmed. The doctor insists: it is important to remember that this is just a possibility. “Many women who undergo mastectomy due to cancer often experience post-operative depression. This is also why Russian doctors are trying to resort to complete removal mammary gland only according to indications,” says Vladimir.

“There is no consensus yet regarding the list of indications for surgery,” clarifies Dmitry Melnikov. - However, genetic mutations, as in the situation with Angelina Jolie, are a very serious factor. In this case, of course, the breast must be removed.”

In our previous article about breast reconstruction, Dmitry already said that preventive mastectomy is always better than “after the fact.”

According to Dr. Melnikov, in world medicine there is no consensus on whether this operation is justified. In Russia, it is not officially permitted: there is no law yet regulating preventive mastectomy, and it is not stated anywhere in what situations doctors are obliged to insist on it. Nevertheless, there is a scientific protocol in this area, so preventive removal of mammary glands is still performed in several cancer hospitals.

What does spay removal entail?

Despite the fact that a double mastectomy is a much more complex operation than an oophorectomy, the latter affects the female body much more strongly. "Delete reproductive organs indeed subsequently affects the quality of life as a whole, confirms Liana Aminova, head of the gynecology department of the MEDSI Clinical Hospital in Botkinsky Proezd. - Ovarian hormones are involved in many body processes. Yes, the compensatory possibilities are quite large, and other organs will take over the production of some hormones. And yet, no one organ can completely take over the function of another. When the ovaries are removed, metabolic processes and weight indicators are disrupted, estrogen production stops, which can lead to vaginal dryness, chills, hot flashes, muscle weakness and other unpleasant consequences.”

Angie actually gave interviews more than once in which she hinted about how her life had changed after the operation. “Now I will never be able to give birth to a child on my own. Moreover, at thirty-nine years old I entered menopause. However, I understand and already now accept the rapid changes in my body, not at all because I am strong, but because such is life, you should not be afraid of it,” Jolie admitted. “I wear a special patch that releases estrogen as well as a progesterone coil into the uterus to help maintain hormonal balance.”

Doctor Aminova said that for prevention oncological diseases There are screening programs. They make it possible to identify diseases that subsequently lead to cancer and prevent their progression to short terms without significant consequences.

"The very fact that gene mutations BRCA1 and BRCA2 are detected by test results, which does not mean that a woman is doomed to cancer. In some cases, they may never develop - it all depends on percentages and a number of other factors, many of which are still not predictable,” added Liana. As for Angelina’s case, the doctor agrees with her Western colleagues: the actress had a high risk of developing cancer, so surgery to remove the ovaries was necessary.

However, the final word remains with the patient herself. In cases where a risk of developing cancer is identified, the woman decides whether to have surgery or not. Many people are not willing to sacrifice their organs just because there is a possibility of developing cancer. Many believe that the disease may never occur - and this is confirmed by Vladimir Kalyadin and Liana Aminova.

The other side of the coin

Angelina wrote in her columns for The New York Times that there are several ways to solve any health problem. The most important thing is to learn about the options and choose what suits everyone personally. “In my case, the doctors I consulted agreed that surgery to remove fallopian tubes and there were ovaries the best option“,” the star said in the essay “Diary of an Operation,” “after all, three women from my family died of cancer (mother, grandmother and aunt).” The actress spoke frankly about her experiences: it was not an easy decision to make.

Indeed, in addition to the medical side of the problem, there is also a psychological one. In the minds of the majority (and not only of the fairer sex, but also of the stronger) the idea of ​​“removing breasts or reproductive system- means to stop being a woman.” Many people are afraid of losing attractiveness in the eyes of a man.

Others simply do not have sufficient information about cancer. This confirmed the number of negative comments that fell upon Jolie after the release of the essay.

“When we talk about what Angelina Jolie and any other woman experiences after a series of similar interventions, it is worth noting that the main thing here is not the absence of sexual characteristics, but the experience that arises in the head,” notes Lyubov Rosenberg, psychologist, gestalt therapist. - It is the brain that gives signals of pleasure and displeasure. Essentially, he guides us and our attitude towards everything that happens inside and around us. There is no doubt that in Jolie's case, removing her breasts and ovaries was the right and brave decision. She decided to reclassify it from the category of some kind of inferiority to a public act. This is an example to all women: you should do exactly what is necessary, without fear of being ridiculed.”

According to the psychologist, if there is a predisposition to cancer in the family, it worries the woman, makes her worry and simply interferes with her life.

“You don’t need to conform to the stereotypical ideas of women in society! - Rosenberg calls. “The presence or absence of certain organs should in no way deprive a woman of how she feels about herself.”

And indeed, Angelina has admitted more than once that she still considers herself sexy: “I don’t feel less feminine. I'm proud that I made difficult choices that in no way compromise my femininity."

About that very thing

“The ovaries are the main source of female sex hormones - estrogens, which are responsible for both appearance women (skin and hair condition), and for her psychological state. After the operation, the woman begins to feel fatigue, apathy, nervousness, sleep and metabolism are disturbed, and libido sharply decreases, notes Natalya Romanovskaya, psychologist, sexologist, expert at the network for training women in sexual techniques “Training Center “SEX.RF”. - This is especially noticeable if the ovaries are removed in a young woman, like Angelina, because the process is very similar to the onset of menopause. Doctors usually prescribe HRT (hormone replacement therapy) to such a patient, which restores hormone levels in female body and brings back the desire to have sex.”

A physiological problem that a woman may face in sex life after removal of the ovaries, this is dryness in the vagina (since estrogens are responsible for the production of natural lubrication) and pain during sexual intercourse. Natalya insists that upon completion postoperative period you need to “enter sex” very carefully.

It is mandatory to use various moisturizers (for example, with hyaluronic acid) and stimulating lubricants, in order to facilitate penetration and make intimacy more comfortable.

“The patient’s self-esteem may drop; she will feel that she is no longer attractive to members of the opposite sex,” notes the sexologist. - In this situation, it is very important to concentrate on other areas in which a woman can express herself and understand that her sexuality does not depend on the presence of breasts or ovaries. If a woman has a partner, she needs to continue to develop her sexuality, offer him new types of sex, and learn oral and manual techniques.”

We can only add that it takes incredible courage to accept such difficult decision like Angelina. I would like to end our material with a quote from the actress herself from her essay: “Life is fraught with many problems. We should not be frightened by those that we can endure and solve.”

Cancer prevention includes management healthy image life and regular examinations. But this does not give a 100% guarantee that a person will not get cancer. Angelina Jolie shocked the world by deciding to radical measures prevention. Are Jolie's surgeries justified?

What determines susceptibility to cancer?

Genetic (hereditary) factors determine susceptibility to cancer by approximately 25%. Another 25% of the likelihood of getting cancer is influenced by lifestyle (diet, physical activity, work and rest hours), availability bad habits and ecology. Sexually transmitted viruses play a significant role in the development of cancer. Today we know what can cause it in the vagina, penis, anus, and oropharynx. Hepatitis B and C viruses are associated with the development of liver cancer, and Epstein-Barr - with Burkitt's lymphoma and stomach cancer.

Modern medicine makes it possible to determine the presence of mutations in genes that are responsible for predisposition to cancer. More than 30 markers are now known that help predict the development of a particular type of cancer. In this case, regular preventive examinations to notice possible illness as early as possible. After all, most types of cancer are curable in their early stages.

Operations Jolie

Cancer prevention measures such as lifestyle changes and regular visits to the doctor may not reassure everyone. In May 2013 American actress, director, screenwriter, fashion model, UN Goodwill Ambassador and simply beautiful Angelina Jolie shocked the public by deciding to radically prevent breast cancer. Because of her predisposition to cancer, she decided to have her breasts removed (mastectomy). Angelina Jolie had both breasts removed, revealing that her mother, aunt and grandmother died from their ovaries. Doctors determined that Angelina herself had an 87% chance of developing breast cancer and a 50% chance of developing ovarian cancer due to a mutation in the BRCA1 gene. The actress explained her decision with the desire to live, love, see her children grow up, and meet future grandchildren.

Jolie's operations did not end there. Almost 2 years after the removal of the mammary glands, in March 2015, Angelina Jolie also had her ovaries removed. After the mastectomy, the actress’s attending physician told her that her blood levels of the CA-125 markers, which are associated with the development of ovarian cancer, were slightly higher. An examination by a surgeon showed that the woman had no problems with her ovaries yet. Theoretically, it remained to be expected that if cancer began to develop, it could be detected and treated at an early stage. But Jolie chose another option - to remove the ovaries.

After surgery to remove the ovaries, Angelina said that she is now in the menopause stage and will no longer be able to have children. She is ready for certain changes in her psyche. But, judging by the actress’s interview, neither after the mastectomy nor after the operation to remove the ovaries, she does not feel completely calm, although she tries to radiate optimism. Jolie emphasizes that it is impossible to completely escape cancer, but she is ready to look for everything possible ways to let her immune system worked great.

Reader Questions

My girlfriend's mother had breast cancer, and she has older sister 20 years old who also had breast pain, what are the chances that my girlfriend might have the same situation? and does it necessarily appear after sex? 18 October 2013, 17:25 My girlfriend’s mother had breast cancer, and she has an older sister, 20 years old, who also had breast pain, what are the chances that my girlfriend could have the same situation? and does it necessarily manifest itself after sex?

Is radical cancer prevention justified?

Angelina Jolie's fears are explained by a hereditary predisposition to breast and ovarian cancer. These types of cancer are indeed often inherited. But most doctors believe that radical cancer prevention, such as Jolie's surgery, is an unnecessary measure.

For example, according to MD, Professor Vera Balan, head of the Scientific Advisory Department of the Moscow Regional Research Institute of Obstetrics and Gynecology, about 10% of women have the same risks as. But experts advise such patients to consult an oncologist to determine the degree of risk, and then follow an observation plan. Professor Balan emphasized that cancer is now detected at an early stage, and it can be cured in less time. in radical ways. However, everyone has the right to manage their own health.

The health status of celebrity characters often becomes news No. 1. It’s been a long time since only the lazy people have not discussed Angelina Jolie’s surgery. Let’s try to separate the “wheat from the chaff” and give specific and most accurate answers to the questions that arise.

Why did the question arise about testing a young and healthy actress for the risk of developing breast cancer?

Because her mother and grandmother died of breast cancer at a fairly young age.

What test led to the conclusion that Angelina Jolie is at high risk of breast cancer?

This is a simple genetic test for mutations of the BRCA1 and BRCA2 genes, which has long been used by oncologists, including in Russia, to identify women at risk for developing particularly aggressive, hereditary breast cancer. To carry out the test use venous blood or a swab from the buccal mucosa. If one or more mutations in the BRCA1, BRCA2 genes are identified, then the risk of developing breast cancer in a carrier of such a gene is approximately 87% (i.e., almost 9 out of 10 women who carry mutations will develop breast cancer during their lifetime!)

If the mutation is not identified, then there is no risk of developing breast cancer at all?

Alas, women in whom the mutation of the BRCA1 and BRCA2 genes have not been identified can also develop breast cancer, but the risk of such a disease is no more than 10%; the onset of the disease, as a rule, occurs more than old age, and the less aggressive course of the disease allows it to be effectively treated.

What to do to avoid cancer if a mutation is detected?

During a prophylactic mastectomy, all tissue in which a genetically determined condition may occur is removed. malignant tumor. In women at higher risk, that is, those with BRCA mutations where the risk of breast cancer is 80% or greater, prophylactic surgery can reduce the risk of cancer by 90%. In other words, the surgery results in a lower risk of cancer than in the general population. This option is recognized as one of the most effective options prevention of breast cancer development. But women who know what they have hereditary mutation BRCA patients may consider another option - early detection of cancer, which is possible with more active regular screening.

What examination should be carried out prophylactically when breast cancer gene mutations are detected?

If a woman knows that she has a BRCA mutation, but she does not want to lose her breasts, she is recommended to have annual mammography and magnetic resonance imaging of the mammary glands (1-2 times a year) and monitoring the level of tumor markers (CA-125 and CA15-3) . This option is not as efficient because the operation will be performed when cancerous tumor has already emerged and developed for some time. But it is still effective, since cancer is operated on at a very early stage.

How many women have mutations in the BRCA gene?

Such mutations are not common. Inherited mutations account for about 10% of all breast cancer cases. According to employees of the Institute of Molecular Biology and Biophysics, during a genetic examination of 8,000 residents of Novosibirsk, one person out of every one hundred and sixty is a carrier of the at least one of the dangerous mutations associated with cancer.

Mutation testingShould all women undergo BRCA?

Need to think about genetic testing for a mutation in the BRCA genes in yourself and your relatives, if there is one or more of the following indications:

• there were at least 2 cases of breast or ovarian cancer in the family.
• there were cases of bilateral breast cancer in the family;
• There was a history of breast cancer in the family before the age of 42.
• the diagnosis of breast cancer has already been established (this is important for choosing effective treatment, because hereditary cancer has its own characteristics!)

How much does genetic testing cost and what does it include?

The cost of examinations depends on the number of mutations in the BRCA1, BRCA2 and CHECK2 genes that will be detected. Today, dozens of mutations are known in the BRCA1 and BRCA2 and CHENK2 genes, but in Russia, in more than 90% of cases of all identified mutations, only 1 mutation in the BRCA1 gene is found. Therefore, it is advisable to carry out this particular analysis. A more detailed and expensive study of other mutations is indicated if breast cancer is familial and a common mutation has not been identified.

Tested on myself: what new Woman’s Day columnist learned about her metabolism, hereditary and potential diseases, reactions to medications, suitable diet, personal qualities ah and his distant relative – Nicolaus Copernicus.

Jolie not only had her mammary glands and ovaries removed, but also spoke openly about it

Predict the future using... genetics

We didn’t even notice how lately cancer became a constant topic of discussion - a wave of interest coupled with panic was spurred by the stories of media personalities, first, then Dmitry Hvorostovsky, then Andrei Gaidulyan. At the same time, everyone asked the eternal question: “What to do and what to do?” Answering the question of who is at risk, adherents traditional medicine vote for special diet for prophylaxis cancer diseases, and scientists rely on the capabilities of modern genetics - they say that all risks can be identified long before cancer becomes real threat, and take preventive measures.

Genetics for me has always been something like space: tempting, mysterious and somehow... not entirely accessible. A sort of hello from the future - codes, modifications, molecular markers, cloning and organs grown in flasks. And as in the case of space, it is frightening that in genetics there is no end in sight - you can endlessly fantasize about what path new research will lead humanity to.

In the meantime, it has been proven that the achievements of genetics and molecular biology of recent decades have at least had a huge impact on the understanding of nature malignant tumors. It has been finally established that cancer is a group of diseases caused by a complex of genetic disorders. Impact of specific underlying genetic disorders tumor growth, made it possible to discover specific molecular markers and develop tests based on them early diagnosis tumors.

Angelina Jolie reminded the world that the future has already arrived. It was the data from the genetic test that helped her decide to complex operations to remove healthy (!) mammary glands and ovaries. Three women in the actress's family died of cancer, so Jolie decided to do everything to prevent or delay the prospects of the disease. Genetic tests delivered their verdict: Angelina’s probability of getting sick turned out to be extremely high - 87% out of 100% due to a mutation in the BRCA1 gene.

Kelly Osbourne is going to repeat this act according to test results

Other stars also flocked to take genetic tests for Jolie. For example, Kelly Osbourne said she was ready to have her ovaries removed, especially after Kelly's mom Sharon Osbourne was diagnosed with colon cancer 13 years ago. Since then, the female side of the Osborne family has undergone a series of studies to find out their risk of the disease. Sharon beat the disease, but in 2012 she decided to have a mastectomy to rule out breast cancer.

“This practice is popular abroad, and this is not surprising. In Russia, “surgical castration” is nonsense,” Anna Kosovskaya, an obstetrician-gynecologist at the European Center for Aesthetic Medicine EAC on Yakimanka, commented to Woman’s Day.

To find out the whole truth about her health, our correspondent decided to take a special genetic test.

Passing the test is a piece of cake

Since September last year in Moscow, you can take the Atlas genetic test, and based on its results, create a prevention or treatment plan. The pleasure is not very cheap - it costs 19,990 rubles. But at the same time, the test promises to determine predisposition to 114 of the most common diseases, carriage of 155 hereditary diseases, tell about ancestors, and give recommendations on nutrition and sports. And most importantly, everything is in accessible form. The results automatically appear in your personal account on the Atlas website. In addition, all data will subsequently be interpreted by a geneticist to avoid false interpretations.

“Wow,” I thought when I had the opportunity to check the test for personal experience. True, then fears and concerns arose - about mutations in my genes and terrible diagnoses. But, of course, this has to do with my human nature - like everyone else, it seems to me that I am a special individual and something terrible will certainly happen to me. However, curiosity got the better of me. Besides, who doesn’t want to feel like a character from “Dr. House”? Therefore, I decided, if I have lupus, I better find out about it right away.

It all started with registration on the site, which I completed quickly and smoothly - as it should be when we're talking about about the future. After registration, a courier came to me and handed me the box. Inside is a plastic flask, instructions, and an agreement that must be signed.

According to the instructions, I filled the flask with saliva to the required level - it took about ten minutes. Important note: before this process, you were forbidden to eat, drink, or kiss for half an hour—in general, to intrude on your privacy in any way. oral cavity. Having filled the test tube, I closed it with a special stopper, from which a special preservative was poured into the contents.

All this time, the courier waited patiently while I carried out all these manipulations. And then he took the box and took it back to the laboratory.

Next - thanks again modern technologies! - I could track the movement of my valuable code in my personal account on the website: this way I knew when my biomaterials arrived at the laboratory and so on. Everything is simple and clear.

Risks and forecasts

Wait two weeks for the result. At first I was a little nervous, and then I forgot how it happens - things got busy. But at the appointed time, I received a notification that the test was ready - the results are available in my personal account on the website. With excitement, I opened my profile, ran through all the results - and exhaled!

The main thing that interested me in the background latest news, is a predisposition to cancer. And - thank God! - no mutation was found in the body that could lead to the disease.

Everything is fine with my genes, except for a small “breakdown”. The test detected a mutation in one of my genes, but in the form where I am only a carrier of this disease, I will not name which one. As I read in the explanation, it will never appear.

Although on the site any word with suspicion of complexity is immediately deciphered in intelligible language - just click on the help window - I wanted to delve deeper into the essence of things. And in order to thoroughly understand all the nuances of the universe, which is my body, I came for a consultation with geneticist Irina Zhegulina.

And I learned a lot from her important detail: Although the mutation of my gene will not manifest itself in any way for me, it can affect the child. That is, the husband will need to be tested for the presence of the same mutation. This determines whether the baby will develop the disease. Well, this turned out to be really important information for me. Others genetic diseases I was not found.

“Modern genetics is developing dynamically. Today it allows you to be aware of the most different features our body, up to a predisposition to a certain type sports The goal of the Atlas is to make genetics understandable to everyone. Our genetic test is based on the most current and significant research. Using its results, the doctor can determine the most effective for specific person treatment and give effective recommendations on lifestyle,” explains geneticist Irina Zhegulina.

Let's go further: the risks of potential diseases of osteoporosis and osteoarthritis are the highest. Together with Irina, we compiled a family tree of all my close relatives and their diseases in order to trace along which lines parallels can be observed. Found a match with my paternal grandfather. The doctor advised me to pay attention to, for example, my knee joints now - when playing sports, wear special knee support pads. By the way, knee joints I really get pain – even with light exertion. At the same time, the trainers at the fitness club blamed everything on salt. In addition, Irina advised me to take a photo for the subject initial changes. As for prevention, I was advised to strengthen my back muscles, because the first thing that suffers with osteoporosis is the spine.

The geneticist also traced a hereditary problem with the kidneys - and hit the nail on the head! Just recently I started having problems with these organs. To prevent the situation from escalating, Irina advised several solutions. I will not go into details, as they involve many personal details. The main thing is that the test predictions really coincided with the symptoms of the diseases I have. Some of the geneticist’s comments turned out to be vitally important – for example, those concerning the connection between my kidney problems and pregnancy.

Interesting genetics

If you look closely, you can find features of a distant relative in our Dasha :)

At the end of the consultation, the doctor and I outlined a plan additional examinations and tests to further check the weaknesses of my body, which were indicated by the genetic test.

The “interesting” part of the genetic test surprised me no less - it turns out that 40 percent of my genes came from the inhabitants of Northern Europe, and my haplogroup was formed 25,000 years ago. I also learned that my percentage of Neanderthal genes is 1.4, while in Europe as a whole it is 2.6. I was also discovered to have a longevity gene, which in light of other news is generally encouraging. My personality traits include a “harm avoidance” temperament, long-term memory is better than most, and I can’t expect menopause before age 46.

Surprisingly, the results in your personal account are constantly refracted under the influence of the latest open and research in genetics. Just like in a living organism. That is, you passed the test today, and in a year you will learn even more about yourself - an update will be applied to your data. So, just recently I found out that my distant relative is Nicolaus Copernicus.

"Over the last couple of months personal account In general, it has undergone several important changes. In it you can now see the entire history of a person’s health, including test results and the conclusion of doctors at our clinic. In addition, we have included in the Guidelines new scientific evidence to reduce the risks of some common diseases, for example coronary disease hearts. To reduce the likelihood of this disease, it is important to change the ratio of proteins, fats and carbohydrates in the diet. Thanks to recent research, proportions can be calculated with high accuracy. The most striking update concerns the origins. More recently, an option has become available that allows you to find out with whom famous personalities you have common maternal or paternal haplogroups,” explains geneticist Irina Zhegulina.

Photo: screenshot from your personal account page

As for sports, the test assures me that I am a strongman: “Your genetics contribute to significant development of strength.” It's probably time to find out experimentally. The disappointing verdict was that the test revealed that I have a genetic predisposition to slow fat burning when physical activity– but I was immediately offered a way out. According to the results, the most effective way for me to deal with extra pounds with the help of aerobic exercise.

This is, of course, only small part information that becomes available after processing the results. For example, in the “Sports” section you can specify a goal - weight loss, gain muscle mass– and find out which activities will be most effective from a genetic point of view. Overall, I was impressed by the test and its results. To say that it was useful for me is to say nothing. The information I received made important adjustments to my life and plans - which, I must admit, I did not initially expect. In addition, after a conversation with the wonderful Irina, my world changed - after all her inspired stories about how our body works from a genetic point of view. I have learned so many fascinating things that now, if in conversations I hear something like “ chromosome theory heredity,” I will nod my head knowingly.