Dna test for oncology. Molecular diagnosis of cancer. Analysis for genetic predisposition to cancer

The introduction of molecular genetic analyzes into clinical practice allowed medicine to achieve great success in the diagnosis and treatment of oncology. Modern methods create additional opportunities for making an accurate diagnosis and determining the predisposition, prognosis, as well as for an individual approach to cancer therapy based on genetic analysis of tumor cells.

Cancer tests are performed in the following situations:

assessment of predisposition to hereditary forms of malignant neoplasms;

clarification of the diagnosis in doubtful cases;

determining the effectiveness of chemotherapy.

These types of research are carried out on modern equipment at an affordable cost in the Allele laboratory in Moscow.

Predisposition to hereditary cancer

As a result of the test, it is possible to identify mutations in genes that indicate a hereditary predisposition to oncology. Such research is necessary if relatives of the first degree of relationship have or had a disease at a young age (usually up to 40 years). There are often 3 hereditary forms of oncology:

mammary cancer;

ovarian cancer;

colon cancer.

These diseases have characteristic genetic damage that indicates a predisposition. However, more and more data appears on the role of heredity in the development of other types of oncology (stomach, lungs, prostate, etc.).

Identifying a predisposition in this case allows the patient to be placed under dispensary observation and promptly remove the tumor in the early stages if it occurs.

Selection of effective chemotherapy regimens

Genetic testing is also important for advanced cancer. In this case, by examining the DNA of tumor cells, one can select an effective therapy, as well as predict its effectiveness. For example, if there is a large number of copies of the Her-2 / neu gene in the tumor tissue of breast or stomach cancer, therapy with Trastuzumab is indicated, and Cetuximab has an effect only in the absence of mutations in the K-ras and N-ras genes in cells colon cancer.

In this case, genetic analysis allows you to determine an effective type of therapy for the disease.

Establishing diagnosis

Molecular tests in oncology are used to make the correct diagnosis. Some malignant tumors have characteristic genetic abnormalities.

Decoding genetic analysis

The results contain information about the state of the patient's DNA, which may indicate a predisposition to certain diseases or susceptibility to certain treatments. As a rule, in the description of the genetic analysis, the mutations for which the test was performed are indicated, and their significance in a specific clinical situation is determined by the doctor. It is imperative that the treating doctor has all the necessary information about the possibilities of molecular diagnostics in oncology.

How is genetic testing done?

In order to make a genetic analysis for the presence of a predisposition to hereditary forms of cancer, the patient's whole blood is needed. There are no contraindications to the test, no special preparation is required.

To perform genetic analysis of an already existing tumor, the tumor cells themselves are required. It should be noted that diagnostic methods for detecting circulating DNA of cancer cells in the blood are already being developed.

There are various methods for detecting mutations in genes. Most often used:

FISH analysis - fluorescence in situ hybridization. Allows you to analyze large sections of DNA (translocation, amplification, duplication, inversion) of chromosomes.

Polymerase chain reaction (PCR). It helps to study only small fragments of DNA, but has a low cost and high accuracy.

Sequencing. The method allows you to completely decipher the sequence of genes and find all existing mutations.

The test for susceptibility to hereditary cancer is done once, because the DNA sequence does not change. Only individual cells can mutate.

If a patient has a tumor, its DNA can be tested several times (for example, before and after chemotherapy), since tumor cells have a high ability to mutate.

The accuracy of genetic analysis of DNA for oncology at the Allel laboratory in Moscow is 99-100%. We use modern techniques that have proven their effectiveness in scientific research, at a relatively low cost of research.

Indications for genetic analysis

According to various sources, hereditary forms of cancer account for about 5–7% of all cases of malignant neoplasms. The main indication for determining predisposition is the presence of oncology in first-degree relatives at a young age.

The indication for the study of the DNA of already existing tumor cells is the very presence of the tumor. Before performing a genetic analysis, it is necessary to consult a doctor to determine which tests are needed and how they may affect therapeutic measures and prognosis.

Modern methods of genetic analysis make it possible to identify predisposition, as well as to increase the effectiveness of the prevention and treatment of cancer. Today, a personalized approach is used in every specialized clinic in Moscow, which makes it possible to select exactly those treatment regimens that will have the maximum possible effect on a particular patient. This reduces the cost and increases the effectiveness of the treatment of the disease.

You have probably asked this question more than once if one of your relatives was diagnosed with an oncological disease. Many people are lost in conjectures - what to do if grandmothers and great-grandmothers died at the age of 30-40, and there is no information about their diseases? And if they died at 60 "old age", like everyone else at that time, was it oncology? Can I have it?

When a relative gets cancer, we are scared. To some extent, it's scary for your health - is cancer inherited? Before jumping to conclusions and panicking, let's look at this issue.

Over the past decades, scientists around the world have been closely studying cancer and even learned how to treat some of its types. Important discoveries are also taking place in the field of genetics, for example, at the end of last year, German molecular biologists discovered the cause of about a third of cancer cases. Geneticists were able to identify the causes of chromotripsis, the so-called "chromosomal chaos." With it, the chromosomes fall apart, and if they accidentally reunite, the cell either dies or becomes the beginning of a cancerous tumor.

In the clinic, we try to actively apply the achievements of geneticists in everyday practice: we determine the predisposition to various types of cancer and the presence of mutations using genetic research. If you are at risk - we will talk about it a little later - you should pay attention to these studies. In the meantime, let's get back to the question.

At its core, cancer is a genetic disease that occurs as a result of a breakdown in the cell's genome. Over and over again, a successive accumulation of mutations occurs in the cell, and it gradually acquires the properties of a malignant one - it becomes malignant.

There are several genes that are involved in the breakdown, and they do not stop working at the same time.

The genes encoding the growth and division systems are called proto-oncogenes. When they break, the cell begins to divide and grow endlessly.
There are tumor suppressor genes that are responsible for the system for sensing signals from other cells and inhibiting growth and division. They can inhibit cell growth, and when they break, this mechanism turns off.
Finally, there are DNA repair genes that code for proteins that repair DNA. Their breakdown contributes to a very rapid accumulation of mutations in the cell genome.

Genetic predisposition to oncology

There are two scenarios for the occurrence of mutations that cause cancer: non-hereditary and hereditary. Non-hereditary mutations appear in originally healthy cells. They are caused by external carcinogenic factors such as smoking or ultraviolet radiation. Mostly cancer develops in people in adulthood: the process of occurrence and accumulation of mutations can take more than a dozen years.

However, in 5-10% of cases, heredity plays a decisive role. This happens when one of the oncogenic mutations appeared in the reproductive cell, which was fortunate enough to become a human. Moreover, each of the approximately 40 * 1012 cells of this person's body will also contain an initial mutation. Therefore, each cell will need to accumulate fewer mutations in order to become cancerous.

The increased risk of cancer is passed down through generations and is called hereditary tumor syndrome. This syndrome occurs quite often - in about 2-4% of the population.

Despite the fact that the bulk of oncological diseases are caused by random mutations, the hereditary factor also needs to be given serious attention. Knowing about the existing inherited mutations, you can prevent the development of a particular disease.

Almost any oncological disease has hereditary forms. Tumor syndromes are known that cause cancer of the stomach, intestines, brain, skin, thyroid gland, uterus, and other less common types of tumors. The same types can be non-hereditary, but sporadic (isolated, manifested from case to case).

Cancer predisposition is inherited as a Mendelian dominant trait, in other words, as a common gene with varying frequencies of occurrence. Moreover, the probability of occurrence at an early age in hereditary forms is higher than in sporadic ones.

Common genetic research

We will briefly tell you about the main types of genetic research that are shown to people at risk. All these studies can be carried out in our clinic.

Definition of a mutation in the BRCA gene

In 2013, thanks to Angelina Jolie, the whole world was actively discussing hereditary breast and ovarian cancer; even non-specialists now know about mutations in the BRCA1 and BRCA2 genes. Due to mutations, the functions of the proteins encoded by these genes are lost. As a result, the main mechanism of repair (restoration) of double-strand breaks in the DNA molecule is disrupted, and a state of genomic instability arises - a high frequency of mutations in the genome of the cell line. Genome instability is a central factor in carcinogenesis.

In simple terms, the BRCA1 / 2 genes are responsible for repairing DNA damage, and mutations in these genes disrupt this very restoration, thus, the stability of the genetic information is lost.

Scientists have described more than a thousand different mutations in these genes, many of which (but not all) are associated with an increased risk of cancer.

In women with BRCA1 / 2 disorders, the risk of developing breast cancer is 45-87%, while the average probability of this disease is only 5.6%. The likelihood of developing malignant tumors in other organs is also growing: the ovaries (from 1 to 35%), the pancreas, and in men - in the prostate gland.

Genetic predisposition to hereditary non-polyposis colorectal cancer (Lynch syndrome)

Colorectal cancer is one of the most common cancers in the world. About 10% of the population has a genetic predisposition to it.

A genetic test for Lynch syndrome, also known as hereditary non-polyposis colorectal cancer (NRCC), detects the disease with 97% accuracy. Lynch syndrome is a hereditary disease in which a malignant tumor affects the walls of the large intestine. It is believed that about 5% of all colorectal cancer cases are associated with this syndrome.

Definition of mutation in the BRaf gene

In the presence of melanoma, tumors of the thyroid or prostate gland, ovarian or intestinal tumors, it is recommended (and in some cases mandatory) a BRaf mutation test. This study will help you choose the right tumor treatment strategy.

BRAF is an oncogene that is responsible for encoding a protein located in the Ras-Raf-MEK-MARK signaling pathway. This pathway normally regulates cell division under the control of growth factors and various hormones. A mutation in the BRaf oncogene leads to excessive uncontrolled proliferation and resistance to apoptosis (programmed death). The result is several times accelerated cell multiplication and neoplasm growth. According to the indications of this study, the specialist makes a conclusion about the possibility of using BRaf inhibitors, which have shown a significant advantage over standard chemotherapy.

Analysis method

Any genetic analysis is a complex multi-stage procedure.
The genetic material for analysis is taken from cells, usually from blood cells. But recently, laboratories are switching to non-invasive methods and sometimes isolating DNA from saliva. The isolated material is subjected to sequencing - determination of the sequence of monomers using chemical analyzers and reactions. This sequence is the genetic code. The resulting code is compared with the reference one and it is determined which regions belong to certain genes. Based on their presence, absence or mutation, a conclusion is made about the test results.

Today in laboratories there are many methods of genetic analysis, each of them is good in certain situations:

FISH method (fluorescence in situ hybridization). A special dye is injected into the biomaterial received from the patient - a DNA test with fluorescent labels, which can show chromosomal aberrations (deviations) that are significant for determining the presence and prognosis of the development of certain malignant processes. For example, the method is useful in identifying copies of the HER-2 gene, an important trait in the treatment of breast cancer.
Comparative genomic hybridization (CGH) method. The method allows you to compare the DNA of the patient's healthy tissue and tumor tissue. An accurate comparison makes it possible to understand exactly which sections of DNA are damaged, and this provides tools for choosing a targeted treatment.
New generation sequencing (NGS) - unlike earlier sequencing methods, it "can read" several parts of the genome at once, therefore it makes the process of "reading" the genome more time-consuming. It is used to identify polymorphisms (replacement of nucleotides in the DNA chain) and mutations associated with the development of malignant tumors in certain parts of the genome.

Due to the large number of chemical reagents, genetic research procedures are quite financially costly. We try to establish the optimal cost of all procedures, so the price for such tests starts at 4,800 rubles.

At-risk groups

The risk groups for hereditary cancer include people who have at least one of the following factors:

Multiple cases of the same cancer in a family
(for example, stomach cancer in grandfather, father and son);
Diseases at an early age for this indication
(for example, colorectal cancer in a patient younger than 50);
A single case of a specific type of cancer
(eg, ovarian cancer, or triple negative breast cancer);
Cancer in each of the paired organs
(for example, cancer of the left and right kidney);
More than one type of cancer in a relative
(for example, a combination of breast and ovarian cancer);
Cancer uncharacteristic of the patient's gender
(for example, breast cancer in a man).

If at least one factor from the list is characteristic of a person and his family, then you should consult a geneticist. He will determine if there is a medical condition for taking a genetic test.

To detect early cancer, carriers of hereditary tumor syndrome should be thoroughly screened for cancer. In some cases, the risk of developing cancer can be significantly reduced through preventive surgery and drug prophylaxis.

The genetic "appearance" of a cancer cell changes during development and loses its original appearance. Therefore, in order to use the molecular characteristics of cancer for treatment, it is not enough to study only hereditary mutations. To identify weak points in the tumor, molecular testing of samples obtained as a result of biopsy or surgery should be performed.

During the test, the tumor is analyzed, an individual molecular passport is drawn up. In combination with a blood test, depending on the required test, a combination of various analyzes for genome and protein is carried out. As a result of this test, it becomes possible to prescribe targeted therapy that is effective for each type of existing tumor.

Prophylaxis

There is an opinion that to determine the predisposition to cancer, you can make a simple analysis for the presence of tumor markers - specific substances that can be waste products of the tumor.

However, more than half of oncologists in our country admit that this indicator is not informative for prevention and early detection - it gives too high a percentage of false positive and false negative results.

An increase in the indicator may depend on a number of reasons that are completely unrelated to cancer. At the same time, there are examples of people with cancer whose tumor marker values remained within the normal range. Specialists use tumor markers as a method to track the course of an already detected disease, the results of which need to be rechecked.

To identify the likelihood of genetic inheritance, first of all, if you are at risk, you need to seek the advice of an oncologist. A specialist, based on your anamnesis, will conclude about the need for certain studies.

It is important to understand that the decision to conduct any test should be made by the doctor. Self-medication in oncology is unacceptable. Misinterpreted results can not only cause premature panic - you can simply miss out on the presence of developing cancer. Detection of cancer at an early stage in the presence of the correct treatment delivered on time gives a chance for recovery.

Should you panic?

Cancer is an inevitable companion of a long-lived organism: the probability of a somatic cell accumulating a critical number of mutations is directly proportional to its lifetime. Just because cancer is a genetic disorder does not mean that it is hereditary. It is transmitted in 2-4% of cases. If your relative is diagnosed with an oncological disease, do not panic, this will harm both yourself and him. See an oncologist. Complete the studies he assigns you. It is better if it is a specialist who monitors the progress in the field of cancer diagnosis and treatment and is aware of everything that you yourself have just learned. Follow his recommendations and do not get sick.

Genetic analysis is the path to accurate treatment

An integral part of the traditional treatment of oncology is the effect on the whole body with the help of chemotherapy drugs. However, the clinical effect of this treatment is not always high enough. This happens due to the complex mechanism of cancer and individual differences in patients' organisms, their response to treatment and the number of complications. In order to improve the effectiveness of treatment in general, the world began to pay more and more attention to the individualization of treatment.

Following the development and introduction of targeted drugs into wide clinical practice, oncology began to attach great importance to the individual selection of treatment, and genetic analysis helps to select them correctly.

Individual treatment- it is, first of all, the exact treatment of a specific tumor. There is no need to explain why the treatment should be carried out accurately. Therefore, obtaining more useful information about the body gives hope for life: 76% of cancer patients have one or another variant of gene mutations. Genetic analyzes will help find this target, exclude ineffective treatment, so as not to waste the most productive time for treatment. And also to reduce the physical and psychological burden of the patient and his family.

Genetic tests in oncology are tests that detect mutations in genes that establish DNA and RNA sequences. Each tumor has its own individual genetic profile. Genetic analysis helps to select targeted therapy drugs, exactly those that are suitable specifically for your type of tumor. And they will help you make a choice in favor of more effective treatment. For example, in patients with non-small cell lung cancer in the presence of the EGFR mutation, the effectiveness of Gefitinib treatment is 71.2%, and 47.3% of chemotherapy with Carboplatin + Paclitaxel. With a negative EGFR value, the effectiveness of Gefitinib is 1.1%, that is, the drug is not effective. Analysis of this mutation directly makes it clear which treatment is better to prefer ...

Who is the genetic analysis indicated for?

Patients in the early stages of oncology.

With the help of genetic analyzes, you can accurately select the most effective drug, which will avoid wasting time and useless stress on the body.

Patients in the late stages of oncology.

The selection of effective targeted therapy can significantly prolong the life of patients with advanced stages, whose treatment with traditional methods is no longer possible.

Patients with rare types of cancer or with oncology of unknown origin.

In such cases, the selection of a standard treatment is very difficult, and genetic tests allow you to choose an accurate treatment even without determining a specific type of cancer.

Patients whose situation cannot be treated with traditional methods.

It is a good choice for patients who have already exhausted the possibilities of traditional treatment, because genetic tests reveal a number of additional drugs that can be used.

Patients with relapses. Genetic testing for recurrences is recommended to be retested because gene mutations can change. And then new targeted therapy drugs will be selected based on new genetic analyzes.

Genetic testing in Harbin

In China, a country with a high incidence of cancer, individualization of treatment has gained wide acceptance, and genetic testing for the selection of targeted therapy has become firmly established in clinical practice. In Harbin, genetic testing is carried out at the Oncology Department of Heilongjiang Nunken Central Hospital

Most informative to pass full range of genetic analyzes Is a second generation sequencing using a high-density neutron flux. The second-generation genetic analysis technology allows one to check 468 important tumor genes at a time, it is possible to identify all types of all genetic regions related to a tumor, to detect special types of its gene mutations.

The complex includes:

Direct genes for targeted drugs - over 80 genes

FDA approved drug targets, experimental drug targets, are being identified.

Genes that determine drug pathways to targets - more than 200 genes
Genes that repair DNA - over 50 genes

Radiation and chemotherapy, PARP inhibitors, immunotherapy

Representative hereditary genes - about 25 genes

Relevant to some of the targets and efficacy of chemotherapy.

Other high frequency mutating genes

Related to prognosis, diagnosis.

Why do I have to check so many indicators if my cancer is already known?

Due to the large number of patients, Chinese oncologists have traditionally gone further than their colleagues from other countries in the development and application of targeted therapy.

Research on targeted therapy in different variations of its application has led to interesting results. Different targeted drugs target the corresponding gene mutations. But the gene mutations themselves, as it turned out, are far from being so rigidly tied to a particular type of cancer.

For example, in a patient with liver cancer, after a full complex of genetic tests, a mutation was identified, in which the drug Iressa, intended for lung cancer, shows a high effect. Treatment of this patient with a lung cancer drug led to regression of the liver tumor! This and other similar cases have given a completely new meaning to the definition of genetic mutations.

At present, checking the full range of genetic analyzes makes it possible to expand the list of targeted therapy drugs with those drugs that were not originally intended for use, which significantly increases the clinical effectiveness of treatment.

Genetic tests are determined by the tumor tissue (this is preferable! The tumor material is suitable after surgery or after a puncture biopsy) or by blood (blood from a vein).

For a more accurate determination of gene mutations, especially in relapses, it is recommended to conduct a second biopsy with the collection of new tumor material. If biopsy is almost impossible or risky, then the analysis is performed on the venous blood.

The result is ready in 7 days... The conclusion contains not only the result, but also specific recommendations with the names of suitable drugs.

Cancer encompasses over 100 different diseases, the main characteristic of which is uncontrolled and abnormal cell division. The accumulation of these cells forms abnormal tissue called a tumor.

Some forms of cancer, such as cancer of the blood, do not form a tumor mass.

Tumors can be benign (noncancerous) or malignant (cancerous). Benign tumors can grow, but they cannot spread to distant parts of the body and usually do not threaten the patient's life. Malignant tumors in the process of their growth penetrate into the surrounding organs and tissues and are able to spread with the flow of blood and lymph to distant parts of the body (metastasize).

Certain types of malignant tumors can affect the lymph nodes. Lymph nodes are normally tiny bean-shaped structures. Their main function is to filter the flow of lymph passing through them and purify it, which is of great importance in the functioning of the body's immune defenses.

Lymph nodes are clustered in various parts of the body. For example, on the neck, axillary and groin areas. Malignant cells separated from the tumor can travel through the body with the flow of blood and lymph, settling in the lymph nodes and other organs and giving rise to new tumor growth there. This process is called metastasis.

A metastatic tumor is named after the organ where it originated, for example, if breast cancer has spread to the lung tissue, it is called metastatic breast cancer, not lung cancer.

Malignant cells can originate anywhere in the body. A tumor is named depending on the type of cells from which it originated. For example, the name "carcinoma" is given to all tumors formed from skin cells or tissue covering the surface of internal organs and glandular ducts. "Sarcomas" originate from connective tissue such as muscle, fat, fibrous, cartilage, or bone.

Cancer statistics

After diseases of the cardiovascular system, cancer is the second leading cause of death in developed countries. The average 5-year survival rate after diagnosis of cancer (regardless of location) is currently about 65%.

The most common types of cancers, apart from the widespread basal cell and squamous skin cancers in old age, are: breast, prostate, lung and colon cancer.

Despite the fact that in different countries the incidence of certain types of tumors is slightly different, but almost everywhere in developed countries, lung cancer, colon, breast and pancreas, as well as prostate cancer are the 5 most common causes of cancer death.

Lung cancer remains the leading cause of cancer death, and the majority of these deaths are caused by smoking. Over the past decade, mortality from lung cancer among men has begun to decline, but there has been an increase in the incidence of lung cancer among women.

Risk factors in oncology

"Risk factors" are any circumstances that increase the likelihood of developing a disease in a particular person. Some risk factors can be controlled, such as tobacco smoking or certain infections. Other risk factors, such as age or ethnicity, cannot be controlled.

Although there are many known risk factors that can influence the onset of cancer, for most of them it is not yet clear whether or not a particular factor can cause the disease on its own or only in combination with other risk factors.

Increased risk of cancer

Understanding an individual's risk of developing cancer is very important. Those patients in whose families there were cases of morbidity or death from cancer, especially at a young age, are at increased risk. For example, a woman whose mother or sister had breast cancer has a double risk of developing breast cancer compared to those whose families did not have the disease.

Patients with an increased incidence of cancer in families should start regular screening tests at a younger age and have them more often. Patients with an established genetic syndrome that is transmitted in the family can undergo special genetic testing, on the basis of which the individual risk for each family member will be determined.

Cancer genetics

Much more is now understood about the relationship between cancer and genetic change. Viruses, ultraviolet radiation, chemical agents, and more can damage a person's genetic material, and if certain genes are affected, a person can develop cancer. In order to understand which specific genes damage can initiate cancer, and how it happens, it is necessary to gain a basic knowledge of genes and genetics.

Genes

is a tiny and compactly packed substance located in the very center of any living cell - in its nucleus.

They are a functional and physical carrier of information that is passed from parents to children. Genes control most of the processes that take place inside the body. Some genes are responsible for such features of appearance as eye color or hair, others - for the blood type, but there is a group of genes responsible for the development (or rather, the underdevelopment) of cancer. Some genes have the function of protecting against the occurrence of "cancerous" mutations.

Genes are made up of sections of deoxyribonucleic acid (DNA) and are located within special bodies called "chromosomes" found in every cell in the body.

Genes encode information about the structure of proteins. Proteins perform their own specific functions in the body: some promote cell growth and division, others are involved in protecting against infections. Each cell in the human body contains about 30 thousand genes, and on the basis of each gene its own protein is synthesized, which has a unique function.

Hereditary information about diseases in chromosomes

Normally, each cell in the body contains 46 chromosomes (23 pairs of chromosomes). A person gets some genes on each chromosome from mom, and others from dad. Pairs of chromosomes 1 through 22 are numbered sequentially and are called "autosomal". The 23rd pair, which is called "sex chromosomes", determines the sex of the child being born. The sex chromosomes are called "X" ("X") and "Y" ("game"). Girls have in their genetic makeup two "X" -chromosomes, and boys - "X" and "Y".

Genes and cancer

With normal, well-coordinated work, genes support normal cell division and growth. When damage occurs in the genes - a "mutation" - cancer can develop. A mutated gene causes an abnormal, malfunctioning protein to be produced in the cell. This abnormal protein in its action can be both useful for the cell, and indifferent and even dangerous.

There may be two principal types of gene mutations.

If a mutation can be passed from one parent to a child, then it is called "germ cell". When such a mutation is passed from parent to child, then it is present in every cell of the child's body, including in the cells of the reproductive system - sperm or eggs. Since a similar mutation is found in the cells of the reproductive system. Then it is passed down from generation to generation. Germ cell mutations are responsible for the development of less than 15% of malignant tumors. These cancers are called familial (ie, family-borne) cancers.
Most cancers develop as a result of a series of genetic mutations that occur throughout the life of an individual. Such mutations are called "acquired" because they are not congenital. Most acquired mutations are caused by environmental factors such as exposure to toxins or cancer-causing agents. The cancer that develops in these cases is called "sporadic". Most scientists are of the opinion that a number of mutations in several genes in a particular group of cells are required for a tumor to occur. Some people may carry a higher number of congenital mutations in their cells than others. Thus, even under the same environmental conditions, when exposed to the same amount of toxins, some people have a higher risk of developing cancer.

Tumor suppressor genes and oncogenes

There are two main types of genes, mutations in which can cause the development of cancer - these are "tumor suppressor genes" and "oncogenes".

Suppressor genes tumors have protective properties. Normally, they limit cell growth by controlling the number of cell divisions, repairing damaged DNA molecules, and timely cell death. If a mutation occurs in the structure of a tumor suppressor gene (as a result of congenital causes, environmental factors, or during aging), cells are able to grow and divide uncontrollably and can form a tumor over time. About 30 tumor suppressor genes are known in organism today, including the BRCA1, BRCA2, and p53 genes. It is known that about 50% of all malignant tumors develop with the participation of a damaged or completely lost p53 gene.

Oncogenes are mutated versions of proto-oncogenes. Under normal conditions, proto-oncogenes determine the number of division cycles that a healthy cell can survive. When a mutation occurs in these genes, the cell gains the ability to divide rapidly and indefinitely, a tumor is formed due to the fact that nothing restricts cell growth and division. To date, several oncogenes, such as "HER2 / neu" and "ras", have been well studied.

Several genes are involved in the development of a malignant tumor.

For the development of cancer, mutations in several genes of one cell are necessary, which disrupt the balance of cell growth and division. Some of these mutations can be hereditary and already pre-exist in the cell, while others can occur during a person's life. Different genes can interact unpredictably with each other or with environmental factors, eventually leading to the emergence of cancer.

Based on modern knowledge about the pathways of tumor origin, new approaches to the fight against cancer are being developed, the purpose of which is to reverse the development of the results of mutations in tumor suppressor genes and oncogenes. New genes involved in the formation of tumors are studied annually.

Family medical history

"Family Tree" provides visual information about members of different generations of the family and their relationship. Knowing your family's medical history can help your family doctor understand what hereditary risk factors are at risk for your family. Genetic studies can in some cases make it possible to accurately predict the personal risk of developing a tumor, but along with this, compiling a family medical history can be very useful in making the most accurate prognosis. This is because family medical history reflects a broader picture than the spectrum of genes studied, as additional risk factors, such as environment, behavioral habits and cultural level, affect the health of family members.

For families with an increased incidence of cancer, studying the medical pedigree can be an important step towards prevention and early diagnosis of the disease. Ideally, this would reduce the risk of disease by changing the habits and lifestyle of an individual who has a negative genetic factor. For example: quitting smoking, changing everyday habits towards a healthy lifestyle, regular physical activity and a balanced diet - all this has a certain preventive value. It is important to note that even the presence of risk factors (that is, any factors that increase the risk of getting sick) of cancerous tumors does not mean with a 100% probability that a given individual will develop cancer, it just means that he should be aware of his increased risk of getting sick. ...

Be honest with your family members when discussing an issue

If you are diagnosed with cancer, do not hesitate to discuss your problem with family members, which may help them understand the need for regular health checks such as mammography or colonoscopy as a strategy for early detection and recovery of the disease. Share with your family information about your treatment, the drugs you are taking, the names and specialties of your doctors and the clinic where you are receiving treatment. In the event of a medical emergency, this information can be life-saving. At the same time, learning more about the family's medical history can be helpful for your own treatment.

How do I collect my family's medical history?

Whichever way you go, it should be remembered that the most informative and useful is such a medical history, which is collected as detailed and thoroughly as possible. Information is important not only about parents and siblings, but also the medical history of children, nephews, grandmothers, grandfathers, aunts and uncles. For those families in which the incidence of cancer is increased, it is recommended:

Collect information about at least 3 generations of relatives;
Carefully analyze information about the health of relatives both on the mother's side and on the father's side, since there are genetic syndromes that are inherited in both the female and male lines;
Include information about the ethnicity of the male and female in the pedigree, since some genetic changes are more common among members of certain ethnic groups;
Record information about any medical problems of each relative, as even those conditions that seem minor and not related to the underlying disease can serve as a key to information about hereditary disease and individual risk;
For each relative who has been diagnosed with a malignant neoplasm, it is necessary to indicate:
- date of birth;
- date and cause of death;
- type and location of the tumor (if medical documents are available, it is highly desirable to attach a copy of the histological report);
- age at which cancer was diagnosed;
- exposure to carcinogens (for example: smoking, occupational or other hazards that can cause cancer);
- the methods by which the diagnosis was established and the methods of treatment;
- a history of other medical problems;

Analyze your family medical history

When all available family health information has been collected, it should be discussed with your personal doctor. Based on this information, he will be able to draw conclusions about the presence of risk factors for certain diseases, draw up an individual plan of health checks taking into account the risk factors inherent in a particular patient and give recommendations on the necessary changes in lifestyle and habits that will be aimed at preventing the development of the disease.

It is also necessary to discuss the history of family illnesses with your children and other relatives, as this can be useful for them in terms of understanding responsibility for their health and developing a lifestyle that can prevent the development of the disease.

Genetic screening

In addition to identifying behavioral and occupational risk factors, analysis of family medical history may indicate the need for genetic testing, in which genetic markers are examined that indicate an increased risk of a particular disease, carriers of the disease are identified, direct diagnosis is carried out, or the probable course of the disease is determined.

In general terms, the signs that lead to the suspicion of a familial carriage of congenital cancer propensity syndrome are as follows:

Repeated cases of cancer in close relatives, especially in several generations. The same type of tumor that occurs in relatives;
The onset of a tumor at an unusually young age (less than 50 years);
Recurrent malignant tumors in the same patient;

A family medical history with any of these signs may indicate an increased risk of cancer in the family. This information should be discussed with your attending physician, and on the basis of his advice, make a decision on further tactics to reduce the individual risk of the disease.

PROS and CONS of genetic testing

If you and your family members were at an increased risk of developing cancer, would you want to know about it? Would you tell other family members? Genetic testing today has made it possible in certain cases to identify those potential patients who are at risk of developing cancer, but the decision to undergo these tests should be based on understanding the problem. Test results can upset a person's mental balance and cause negative emotions in relation to their own health and the health of the family. Before deciding to undergo a genetic study, consult with your doctor, geneticist and your loved ones. You must be sure that you are ready to correctly perceive this information.

Genes, their mutations and genetic tests

Genes carry certain information that is passed from parent to child. Various variants of genes, as well as changes in their structure, are usually called mutations. If such a mutated form of a gene was received by a child from his parents, then we are talking about a congenital mutation. No more than 10% of all cancers are the result of congenital mutations. Only in rare cases can a single mutation cause cancer. However, certain mutations can increase a carrier's risk of developing cancer. Genetic tests can measure an individual's risk of disease. There is no analysis today that predicts the development of a malignant tumor with 100% probability, but tests can reveal an individual's risk if it is higher than the average population.

The pros of genetic testing

People decide to undergo genetic testing for a propensity to develop malignant tumors for various reasons, depending on the specific situation. Someone wants to understand the possible cause of an already developed disease, someone - the risk of developing cancer in the future, or determine whether he is a carrier of the disease. Being a carrier of a disease means that a person has in his genome ("carries") the gene for a certain disease without signs of the development of the disease itself associated with this gene. Since carriers can pass on the defective gene to their children, genetic testing can be useful in determining the degree of risk to the intended offspring.

The decision to undergo the test is an individual decision, for which you need to consult with your family and your doctor.

The reasons for passing genetic testing may be based on the following considerations:

The test result can be the basis for timely medical intervention. In some cases, individuals with a genetic predisposition may be able to reduce their risk of developing the disease. For example, women who carry a gene for breast and ovarian cancer predisposition (BRCA1 or BRCA2 are advised to undergo preventive surgery. Individuals at increased risk of developing cancer are advised to undergo more frequent diagnostic examinations, avoid specific risk factors, or take preventive medications). ...
Genetic testing can reduce anxiety. If someone has more than one family member who has cancer, which could be a sign of a genetic predisposition to cancer in the family, then the result of genetic testing can allay the concern.
Questions to ask yourself before taking the tests: before deciding on a genetic study, you must be absolutely sure that you understand all the risks associated with obtaining the result of these tests and have sufficient grounds to pass this study. It is also helpful to think about what you will do with the results. Several factors are listed below to help you make your decision:
- Do I have a family history of cancer or family members who developed a tumor at a relatively young age?
- What will be my perception of the test results? Who can help me use this information?
- Will knowing the test result change my healthcare team or my family's healthcare team?
- If a genetic predisposition is found, what steps am I willing to take to minimize my personal risk?
Additional factors influencing decision making:
- Genetic tests have certain limitations and psychological implications;
- Test results can cause depression, anxiety, or guilt.

If someone gets a positive test result, this can cause anxiety or depression about the likelihood of developing cancer. Some people begin to consider themselves sick, even if they never develop a tumor. If someone is not a carrier of the mutant variant of the gene, while other family members are, this fact may cause him to feel guilty (the so-called "survivor guilt").

Testing can cause tension between family members. In some situations, an individual may feel responsible for the fact that his family members are carriers of unfavorable heredity. which became clear thanks to his initiative to conduct testing. This can lead to the development of tensions in the family.
Testing can provide a false sense of security.

If the results of a person's genetic testing turn out to be negative, this does not mean that the person is absolutely protected from developing cancer. It only means that his personal risk does not exceed the average cancer risk in the population.

Test results may be unclear for interpretation. The genotype of a particular individual may carry unique mutations that have not yet been investigated for a predisposition to the development of cancerous tumors. Or, a particular set of genes may contain a mutation that cannot be detected with the available tests. In any case, this makes it impossible to determine the risk of developing cancer, and this situation can lead to feelings of anxiety and uncertainty.
Test results may raise personal privacy issues. The conclusion, stored in the patient's personal medical record, may become known to the employer or the insurance company. Some people fear that genetic test results may lead to genetic discrimination.
Currently, it is expensive to carry out genetic tests and interpret their results and are not covered by the CHI or VHI funds.

Genetic counseling

It is a detailed informational conversation, during which a geneticist with advanced training in onco-genetics helps the patient or family members understand the value of medical information, talks about the available early diagnosis methods, optimal protocols for monitoring the health of family members, necessary prevention programs and treatment methods in the event of the development of the disease.

Typically, a conversation plan includes:

Identification and discussion of the existing risk. A detailed explanation of the meaning of the detected genetic predisposition. Informing about the available research methods and helping the family to make their own choices;
Discussion of existing methods of diagnosis and treatment in case of tumor development. Review of available methods for early tumor detection or prophylactic treatment;
A discussion of the benefits of testing and the risks it poses. A detailed explanation of the limitations of the genetic testing method, the accuracy of the test results, and the consequences that may result from obtaining test results;
Informed consent signing. Repetition of information on the possibilities of diagnosing and treating a probable disease. Clarification of the patient's degree of understanding of the information discussed;
Discussion with patients of issues of confidentiality of genetic research;
Explaining the possible psychological and emotional consequences of being tested. Helping the patient and family cope with emotional, psychological, medical and social difficulties that can arise from knowledge of a predisposition to the development of a malignant disease.

What questions should you ask a cancer genetics specialist?

Talking to a cancer genetics specialist includes gathering information about diseases that have happened in your family. Based on this conversation, conclusions will be drawn about your individual risk of developing cancer and the need for special genetic tests and cancer screening. When planning your visit to a geneticist, you need to gather as much information as possible about your family's medical history so that you can get the most out of your conversation.

What data might be helpful?

First, your medical records, statements, results of instrumental examination methods. analyzes and histological conclusions, if a biopsy or operation has ever been performed;
A list of your family members with age, diseases, for the deceased - the date and cause of death. The list should include parents, siblings, children, uncles and aunts, nephews, grandfathers, grandmothers, and cousins and brothers;
Information regarding the types of tumors that were in your family and the age of family members at the time of cancer. If histological findings are available. They will be very helpful.

What issues should be discussed during the consultation?

Your personal medical history and screening diagnostic plan;
Familial incidence of tumors. Usually, a family tree is compiled, including at least 3 generations, on which it is noted who has the disease and at what age;
The likelihood of hereditary cancer in your family;
The reliability and limitations of genetic testing in your case;
Selection of the most informative strategy for conducting genetic testing.

After the end of the consultation, you will receive a written opinion on your case; it is advisable to give a copy of this opinion to the attending physician. If, as a result of the consultation, the need for genetic testing becomes obvious, then after the results are obtained, a second visit to a geneticist will be required.

Genetic testing

Genetic testing is an analysis of DNA, RNA, human chromosomes and some proteins that can predict the risk of developing a particular disease, identify carriers of altered genes, accurately diagnose a disease or predict its prognosis in advance. Modern genetics knows more than 700 tests for a variety of diseases, including cancer of the breast, ovaries, colon and other more rare types of tumors. Every year more and more genetic tests are introduced into clinical practice.

Genetic research aimed at detecting the risk of developing malignant tumors is “predictive” (predictive) research, which means that the results of the tests can help determine the likelihood of developing a particular tumor in a patient during his life. However, not every carrier of a tumor-associated gene will develop a malignant disease during their lifetime. For example, women who carry a certain mutation have a 25% risk of developing breast cancer, while 75% of them will remain healthy.

An oncologist in Moscow recommends genetic testing only for those patients who have a high risk of carriage of a congenital genetic mutation, which determines the risk of developing a malignant tumor.

The following are factors that will help identify patients at risk:

Have a family history of cancer;
three or more relatives in the same lineage suffer from the same or related forms of cancer;
Early development of the disease. Two or more relatives are diagnosed with the disease at a relatively early age;
Multiple tumors. Two or more tumors that develop in the same family member.

Many genetic tests are being developed to identify those mutations that increase the risk of cancer, but methods for preventing the development of a tumor are not always available; in many cases, based on genetic testing, it is only possible to diagnose a tumor as early as possible. Therefore, before deciding to conduct genetic research, the patient should be fully aware of the psychological burden that knowledge of the increased oncological risk can bring. The examination procedure begins with the signing of an "informed consent for genetic testing", which explains the essence and specifics of the planned

Head of
"Oncogenetics"

Zhusina
Yulia Gennadevna

Graduated from the pediatric faculty of the Voronezh State Medical University named after V.I. N.N. Burdenko in 2014.

2015 - internship in therapy at the Department of Faculty Therapy of V.G. N.N. Burdenko.

2015 - Certification course in the specialty "Hematology" on the basis of the Hematological Scientific Center in Moscow.

2015-2016 - physician therapist, VGKBSMP №1.

2016 - the topic of the dissertation for the degree of candidate of medical sciences "study of the clinical course of the disease and prognosis in patients with chronic obstructive pulmonary disease with anemic syndrome" was approved. Co-author of over 10 publications. Participant of scientific and practical conferences on genetics and oncology.

2017 - refresher course on the topic: "interpretation of the results of genetic studies in patients with hereditary diseases."

Since 2017, residency in the specialty "Genetics" on the basis of the RMANPO.

Head of
"Genetics"

Kanivets
Ilya Viacheslavovich

Kanivets Ilya Vyacheslavovich, geneticist, candidate of medical sciences, head of the genetics department of the Genomed medical and genetic center. Assistant of the Department of Medical Genetics of the Russian Medical Academy of Continuing Professional Education.

He graduated from the medical faculty of the Moscow State University of Medicine and Dentistry in 2009, and in 2011 - his residency in Genetics at the Department of Medical Genetics of the same university. In 2017 he defended his thesis for the degree of candidate of medical sciences on the topic: Molecular diagnostics of variations in the number of copies of DNA regions (CNVs) in children with congenital malformations, phenotype abnormalities and / or mental retardation when using SNPs of high-density oligonucleotide microarrays "

From 2011-2017 he worked as a geneticist at the Children's Clinical Hospital named after N.F. Filatov, Scientific Advisory Department of the Federal State Budgetary Scientific Institution "Medical Genetic Research Center". From 2014 to the present, he has been the head of the genetics department at MGC Genomed.

The main areas of activity: diagnostics and management of patients with hereditary diseases and congenital malformations, epilepsy, medical and genetic counseling of families in which a child was born with hereditary pathology or developmental defects, prenatal diagnostics. During the consultation, clinical data and genealogy are analyzed to determine the clinical hypothesis and the required amount of genetic testing. Based on the results of the survey, the data are interpreted and the information received is explained to the consultants.

He is one of the founders of the School of Genetics project. Speaks regularly at conferences. Gives lectures for doctors, geneticists, neurologists and obstetricians-gynecologists, as well as for parents of patients with hereditary diseases. She is the author and co-author of more than 20 articles and reviews in Russian and foreign journals.

The area of professional interests is the introduction of modern genome-wide studies into clinical practice, the interpretation of their results.

Reception time: Wed, Fri 16-19

Head of
"Neurology"

Sharkov
Artem Alekseevich

Sharkov Artyom Alekseevich- neurologist, epileptologist

In 2012, he studied under the international program "Oriental medicine" at the Daegu Haanu University in South Korea.

Since 2012 - participation in the organization of a database and an algorithm for the interpretation of genetic tests xGenCloud (http://www.xgencloud.com/, Project Manager - Igor Ugarov)

In 2013 graduated from the Pediatric Faculty of the Russian National Research Medical University named after N.I. Pirogov.

From 2013 to 2015 he studied in clinical residency in neurology at the Scientific Center of Neurology.

Since 2015, he has been working as a neurologist, research assistant at the Academician Yu.E. Veltischev N.I. Pirogov. He also works as a neurologist and doctor of the video-EEG monitoring laboratory in the clinics “Center for Epileptology and Neurology named after V.I. A.A. Kazaryan "and" Epilepsy Center ".

In 2015, he studied in Italy at the “2nd International Residential Course on Drug Resistant Epilepsies, ILAE, 2015” school.

In 2015, advanced training - "Clinical and molecular genetics for practicing doctors", RCCH, RUSNANO.

In 2016, advanced training - "Fundamentals of Molecular Genetics" under the guidance of bioinformatics, Ph.D. Konovalova F.A.

Since 2016 - the head of the neurological department of the Genomed laboratory.

In 2016, he studied in Italy at the school "San Servolo international advanced course: Brain Exploration and Epilepsy Surger, ILAE, 2016".

In 2016, advanced training - "Innovative genetic technologies for doctors", "Institute of laboratory medicine".

In 2017 - the school "NGS in Medical Genetics 2017", Moscow State Scientific Center

Currently, he conducts scientific research in the field of epilepsy genetics under the guidance of Professor, MD. Belousova E.D. and professors, d.m.s. Dadali E.L.

The topic of the dissertation for the degree of candidate of medical sciences "Clinical and genetic characteristics of monogenic variants of early epileptic encephalopathies" was approved.

The main areas of activity are the diagnosis and treatment of epilepsy in children and adults. Narrow specialization - surgical treatment of epilepsy, epilepsy genetics. Neurogenetics.

Scientific publications

Sharkov A., Sharkova I., Golovteev A., Ugarov I. "Optimization of differential diagnosis and interpretation of the results of genetic testing by the XGenCloud expert system in some forms of epilepsy." Medical genetics, no. 4, 2015, p. 41.
*
Sharkov A.A., Vorobiev A.N., Troitsky A.A., Savkina I.S., Dorofeeva M.Yu., Melikyan A.G., Golovteev A.L. "Surgery of epilepsy for multifocal brain lesions in children with tuberous sclerosis." Abstracts of the XIV Russian Congress "INNOVATIVE TECHNOLOGIES IN PEDIATRICS AND PEDIATRIC SURGERY". Russian Bulletin of Perinatology and Pediatrics, 4, 2015. - p. 226-227.
*
Dadali E.L., Belousova E.D., Sharkov A.A. "Molecular genetic approaches to the diagnosis of monogenic idiopathic and symptomatic epilepsies". Thesis of the XIV Russian Congress "INNOVATIVE TECHNOLOGIES IN PEDIATRICS AND PEDIATRIC SURGERY". Russian Bulletin of Perinatology and Pediatrics, 4, 2015. - p. 221.
*
Sharkov A.A., Dadali E.L., Sharkova I.V. "A rare variant of early type 2 epileptic encephalopathy caused by mutations in the CDKL5 gene in a male patient." Conference "Epileptology in the System of Neurosciences". Collection of conference materials: / Edited by prof. Neznanova N.G., prof. Mikhailova V.A. SPb .: 2015. - p. 210-212.
*
Dadali E.L., Sharkov A.A., Kanivets I.V., Gundorova P., Fominykh V.V., Sharkova I, V ,. Troitsky A.A., Golovteev A.L., Polyakov A.V. A new allelic variant of type 3 myoclonus epilepsy caused by mutations in the KCTD7 gene // Medical genetics. -2015.- vol.14.-№9.- p.44-47
*
Dadali E.L., Sharkova I.V., Sharkov A.A., Akimova I.A. "Clinical and genetic features and modern methods of diagnosing hereditary epilepsies." Collection of materials "Molecular biological technologies in medical practice" / Ed. Corresponding Member RAYEN A.B. Maslennikov. - Issue. 24.- Novosibirsk: Akademizdat, 2016.- 262: p. 52-63
*
Belousova E.D., Dorofeeva M.Yu., Sharkov A.A. Epilepsy in tuberous sclerosis. In "Diseases of the brain, medical and social aspects" edited by Gusev EI, Gekht AB, Moscow; 2016; pp. 391-399
*
Dadali E.L., Sharkov A.A., Sharkova I.V., Kanivets I.V., Konovalov F.A., Akimova I.A. Hereditary diseases and syndromes accompanied by febrile seizures: clinical and genetic characteristics and diagnostic methods. // Russian Journal of Pediatric Neurology.- T. 11.- №2, p. 33- 41.doi: 10.17650 / 2073-8803- 2016-11- 2-33- 41
*
Sharkov A.A., Konovalov F.A., Sharkova I.V., Belousova E.D., Dadali E.L. Molecular genetic approaches to the diagnosis of epileptic encephalopathy. Collection of abstracts "VI BALTIC CONGRESS ON CHILD NEUROLOGY" / Edited by Professor Guzeva V.I. St. Petersburg, 2016, p. 391
*
Hemispherotomy for pharmacoresistant epilepsy in children with bilateral brain damage Zubkova N.S., Altunina G.E., Zemlyansky M.Yu., Troitsky A.A., Sharkov A.A., Golovteev A.L. Collection of abstracts "VI BALTIC CONGRESS ON CHILD NEUROLOGY" / Edited by Professor Guzeva V.I. St. Petersburg, 2016, p. 157.
*
*
Article: Genetics and differential treatment of early epileptic encephalopathy. A.A. Sharkov *, I. V. Sharkova, E. D. Belousova, E.L. Dadali. Journal of Neurology and Psychiatry, 9, 2016; Issue 2doi: 10.17116 / jnevro 20161169267-73
*
Golovteev A.L., Sharkov A.A., Troitsky A.A., Altunina G.E., Zemlyansky M.Yu., Kopachev D.N., Dorofeeva M.Yu. "Surgical treatment of epilepsy in tuberous sclerosis" edited by M. Dorofeeva, Moscow; 2017; page 274
*
New international classifications of epilepsy and epileptic seizures of the International League Against Epilepsy. Journal of Neurology and Psychiatry. C.C. Korsakov. 2017.Vol. 117.No. 7.P. 99-106

Head of
"Prenatal diagnosis"

Kievskaya
Yulia Kirillovna

In 2011 she graduated from the Moscow State University of Medicine and Dentistry. A.I. Evdokimova with a degree in General Medicine She studied in residency at the Department of Medical Genetics of the same university with a degree in Genetics

In 2015, she graduated from an internship in the specialty of Obstetrics and Gynecology at the Medical Institute for Advanced Training of Doctors of the FSBEI HPE "MGUPP"

Since 2013 he has been conducting a consultative reception at the State Budgetary Healthcare Institution "Center for Family Planning and Reproduction" DZM

Since 2017, he has been the head of the Prenatal Diagnostics department of the Genomed laboratory

Speaks regularly at conferences and seminars. Gives lectures for doctors of various specialties in the field of reproduction and prenatal diagnostics

Conducts medical and genetic counseling for pregnant women on prenatal diagnostics in order to prevent the birth of children with congenital malformations, as well as families with presumably hereditary or congenital pathologies. Interprets the results of DNA diagnostics.

SPECIALISTS

Latypov
Arthur Shamilevich

Latypov Artur Shamilevich - doctor geneticist of the highest qualification category.

After graduating from the medical faculty of the Kazan State Medical Institute in 1976, he worked for many first as a doctor in the office of medical genetics, then as the head of the medical genetics center of the Republican Hospital of Tatarstan, chief specialist of the Ministry of Health of the Republic of Tatarstan, teacher of the departments of Kazan Medical University.

Author of over 20 scientific papers on problems of reproductive and biochemical genetics, participant in many national and international congresses and conferences on problems of medical genetics. Introduced methods of mass screening of pregnant women and newborns for hereditary diseases into the practical work of the center, carried out thousands of invasive procedures for suspected hereditary diseases of the fetus at different stages of pregnancy.

Since 2012 she has been working at the Department of Medical Genetics with a course of prenatal diagnostics of the Russian Academy of Postgraduate Education.

Research interests - metabolic diseases in children, prenatal diagnostics.

Reception time: Wed 12-15, Sat 10-14

Reception of doctors is carried out by appointment.

Doctor-geneticist

Gabelko
Denis Igorevich

In 2009 he graduated from the medical faculty of KSMU named after S. V. Kurashova (specialty "General Medicine").

Internship at the St. Petersburg Medical Academy of Postgraduate Education of the Federal Agency for Healthcare and Social Development (specialty "Genetics").

Internship in therapy. Primary retraining in the specialty "Ultrasound diagnostics". Since 2016, he has been a member of the Department of Fundamental Foundations of Clinical Medicine of the Institute of Fundamental Medicine and Biology.

Sphere of professional interests: prenatal diagnostics, the use of modern screening and diagnostic methods to identify the genetic pathology of the fetus. Determination of the risk of recurrence of hereditary diseases in the family.

Participant of scientific and practical conferences on genetics and obstetrics and gynecology.

Work experience 5 years.

Consultation by appointment

Reception of doctors is carried out by appointment.

Doctor-geneticist

Grishina
Kristina Alexandrovna

Graduated in 2015 from the Moscow State Medical and Dental University with a degree in General Medicine. In the same year she entered the residency in the specialty 30.08.30 "Genetics" at the Federal State Budgetary Scientific Institution "Medical Genetic Research Center".
She was hired to work in the laboratory of molecular genetics of difficult inherited diseases (head - Doctor of Biological Sciences Karpukhin A.V.) in March 2015 as a research laboratory assistant. Since September 2015, she has been transferred to the position of a research assistant. She is the author and co-author of more than 10 articles and abstracts on clinical genetics, oncogenetics and molecular oncology in Russian and foreign journals. Regular participant of conferences on medical genetics.

Field of scientific and practical interests: medical and genetic counseling of patients with hereditary syndromic and multifactorial pathology.

A consultation with a geneticist allows you to answer the questions:

whether the child's symptoms are signs of a hereditary disorder what research is needed to identify the cause determining an accurate forecast recommendations for the conduct and assessment of the results of prenatal diagnostics everything you need to know when planning a family IVF planning consultation on-site and online consultations

She took part in the scientific and practical school "Innovative genetic technologies for doctors: application in clinical practice", the conference of the European Society of Human Genetics (ESHG) and other conferences dedicated to human genetics.

Conducts medical and genetic counseling for families with presumably hereditary or congenital pathologies, including monogenic diseases and chromosomal abnormalities, determines indications for laboratory genetic studies, interprets the results of DNA diagnostics. Consults pregnant women on prenatal diagnostics in order to prevent the birth of children with congenital malformations.

Geneticist, obstetrician-gynecologist, candidate of medical sciences

Kudryavtseva
Elena Vladimirovna

Geneticist, obstetrician-gynecologist, candidate of medical sciences.

Specialist in the field of reproductive counseling and hereditary pathology.

Graduated from the Ural State Medical Academy in 2005.

Residency in Obstetrics and Gynecology

Internship in Genetics

Professional retraining in the specialty "Ultrasound diagnostics"

Activities:

Infertility and miscarriage

She is a graduate of the Nizhny Novgorod State Medical Academy, the Faculty of General Medicine (specialty "General Medicine"). She graduated from the clinical residency at the Moscow State Scientific Center for Genetics. In 2014, she completed an internship at the clinic for mothers and children (IRCCS materno infantile Burlo Garofolo, Trieste, Italy).

Since 2016 he has been working as a consultant physician at Genomed LLC.

Regularly participates in scientific and practical conferences on genetics.

Main areas of activity: Consulting on clinical and laboratory diagnostics of genetic diseases and interpretation of results. Management of patients and their families with presumably hereditary pathology. Consulting in planning pregnancy, as well as during pregnancy on prenatal diagnostics in order to prevent the birth of children with congenital pathology.