28 diseases - Breast cancer

DNA test for genetic predisposition to breast cancer

Breast cancer is a malignant tumor with frank gene conditionality of disease. This is the second most frequent occurrence and mortality rate of oncological disease in the world.

Warn yourself from diseases
Breast cancer

In many civilized countries, the incidence of breast cancer progressively increases. Partially, it is connected with increase of life expectancy, but there is also increase in frequency of newly diagnosed cancer in women of young and middle age.

Breast cancer is one of the most genetically studied tumors. Importance of gene mutations and hereditary anomalies in development of this disease is very great. In countries where molecular genetic screening is quite actively used detectability of early tumor forms of this localization is significantly increased. Thanks to such tactics, the number of deaths from breast cancer has been reduced by almost 30% in many developed countries.

Most types of breast cancer refer to hormone-dependent tumors. Since the tumor originates from glandular tissue, the function of which is regulated by estrogens, gestagens and prolactin, the tumor tissue retains sensitivity to these hormones.

Why does breast cancer develop?

The cause of disease is mutation of cells of glandular tissue, leading to its uncontrolled growth and loss of differentiation.

Among the risk factors can be named out:

inherited predisposition;
some anamnestic features of functioning of female reproductive system;
hormone imbalance;
pre-malignant condition: fibroadenoma, mastopathy, gynecomastia in men;
arterial hypertension;
diabetes mellitus;
large doses of ionizing radiation;
excessive drinking.

The role of hereditary factor is confirmed by statistical data: if the relatives of the first line suffered from ambilateral breast cancer, the risk of tumor developing increases 9 times. The risk relationship is not so pronounced for unilateral defeat, nevertheless it is clearly monitored.

The following characteristics of childbearing function are disadvantageous in terms of increasing the risk:

  • 1


  • 2

    first childbearing after 30 years;

  • 3

    short lactation period after childbirth;

  • 4

    lonely women;

  • 5

    early onset of menstruation;

  • 6

    late menopause;

  • 7

    previously diagnosed breast cancer.

Men suffer from the disease very rarely, this is associated with a low level of female sex hormones. The same can be said about low risk of breast cancer in women who were ovaries in the age under 35.

Genetic predisposition to breast cancer

A sizeable part of all cases of disease is associated with a hereditary predisposition. The mechanism of development of such a tumor is associated with two points:

  • 1

    the rate of mutation detection;

  • 2

    the effectiveness of "mending" of detected genetic defect.

Nowadays, there are about 40 dangerous genes which have been identified, and their number continues increasing. The most common mutations are BRCA1 and BRCA2, p53, PTEN, STK11 / LKB1 and CDH1 and others.

BRCA1 gene is responsible for creating a protein that "mends" double-stranded DNA rupture and other damages of gene material. Along with other genes and active substances, this gene forms a complex that regulates stability of DNA, which is especially important for the development of malignant neoplasm. Reduction of efficiency of restoration of the damaged genome leads to replication (division) of cell with altered DNA, which subsequently gives rise to the tumor focus.

Breast cancer: symptoms and signs

The reason of visiting a doctor is usually finding a seal in the mammary gland or an increase in axillary lymph nodes. Unfortunately, up to the moment when the first signs of breast cancer'll appear and the primary focus can be clearly felt independently, as a rule, the tumor already spreads through the lymphatic vessels and affects the lymph nodes.

The ductal form of cancer can manifest by small changes of the nipple: there can appear crusts, erosion, peeling, small compaction.

Breast cancer of the third stage is a visible neoplasm. The gland is enlarged, asymmetric, there can be seen reddening of skin over the focus, ulceration. A characteristic sign - a symptom of the "lemon peel", which arises from the clogging of lymphatic vessels with small metastatic formations, as a result, characteristic tuberosity on the surface is formed. A bit time later, pain, bloody discharge from the nipples, deformation of the nipple and the entire gland may appear. In some cases, an advanced tumor can resemble mastitis or even erysipelatous inflammation with bright coloration of skin of breast, a local increase in temperature and pain.

The growth of the tumor is relatively slow: it is estimated that on average one atypical cancer cell forms a 1 cm diameter in 7 years. In pregnant women, under the influence of specific hormonal background, the tumor growth rate can substantially increase.

Despite moderate growth rate of primary focus, breast cancer quickly transfers metastases to lymph nodes or some distant organs - bones, liver and lungs.

Take the DNA test
Check yourself and your family!

Every year, breast cancer takes thousands of lives. Patients spend hundreds of millions dollars on treatment, and high expenditure does not guarantee cure.

Remember importance of early detection of a tumor. Take the DNA test for a genetic predisposition to breast cancer - protect yourself and your family.


For effective treatment, it is important to identify breast cancer at the 1st or, in the last resort, at the 2nd stage: only in this case the prognosis can be favorable. The tumor is detected by means of ultrasound and radiography - mammography. The most informative is X-ray diagnostics: for early detection of the disease, it is recommended to perform it even in case of absence of palpable seals in the gland. MRT is also highly informative: this study can detect a focus of less than 5 mm in diameter.

Any identified calcification requires centesis or trepan biopsy with further examination of resulting material under the microscope.

Stages of breast cancer

The disease passes through 4 consequential stages:

1 stage.

The primary focus is less than 2 cm, while the lymph nodes are not affected.

2 stage.

In addition to a tumor, which is up to 2 cm in size, a single affected lymph node in the axillary region can be found. To the 2nd stage of breast cancer it's carried also a tumor up to 5 cm in diameter without involving in process of lymphonoduses.

3 stage.

The tumor intensively spreads through the lymphatic vessels and affects several lymph nodes, while they become immobile, welded to surrounding tissues.

4 stage.

The process reaches its peak of development. The primary focus adheres to skin and (or) chest, enlarged lymph nodes in several areas are found. At the 4th stage, metastases can occur to distant organs.

For more accurate characteristics of the tumor, the TNM classification is used, where


— primary site,


— lymph glands,


— presence or absence
of metastases.

The severity of each symptom is described by a number from 0 to 4.

Example 1

T1N1M0: tumor size up to 2 cm; a single axillary lymph node was found, unconnected with surrounding tissues; metastases not identified.

Example 2

T1N3M0: small tumor; multiple lymph node involvement; metastases not identified.

Treatment of Breast cancer

As for all malignant neoplasms, the standard for treating a breast tumor is the complete removal of all atypical cells. The basis of treatment is a surgical operation. In addition to it, radiation therapy, chemotherapy, immunotherapy, the newest methods of targeted and monoclonal therapy can be used.

Operative therapy

All the variety of nowadays operations can be divided into two large groups:

conservative (economical) surgery;
radical surgery.

Economical methods of surgical treatment are used in the first and partially in the second stage of the disease. Depending on the prevalence, histological type of tumor, the patient's age and health status, lumpectomy (removal of the breast sector with the tumor) or to more extensive operations can be chosen. When the lymph nodes are involved in the pathological process, they are removed together with the primary focus by a single unit with an aim to prevent the dispersion of atypical cells through the blood and lymphatic channels. If necessary, the underlying pectoral muscles in the right amount are excised. In any case, deleted material is sent for histological examination in order to control the quality of the resection performed: ideally, the marginal zone of the remote site should be free of cancer cells.

Radical surgery (mastectomy) is indicated in a distributed process. This operation is associated with a greater frequency of complications and requires a long recovery period, so mastectomy is usually not used at an early stage of cancer.

Radiation therapy of for breast cancer

After breast cancer surgery, radiation therapy is often prescribed. Its goal is to suppress the division of the cancer cells that remain in the body. Radiotherapy can reduce the frequency of relapses, prevent metastasis or delay its appearance.

The method of local irradiation, brachytherapy, is relatively new methods of radiotherapy, consisting in the pointwise action of ionizing radiation. A capsule with a radioisotope is injected into the gland tissue next to the tumor and left for a certain time to obtain the desired dose.

Such therapy can reduce the incidence of side effects and reduce their severity.

Chemotherapy for breast cancer

To suppress tumor growth, the patient is injected special drugs that disrupt the DNA replication (division). The drugs have a well-defined toxic effect, so this treatment is carried out under the supervision of a physician with drug-induced protective complications.

Immunotherapy and homogeneous antibodies

Modern drugs aimed for treatment of malignant neoplasms act as antitumor immune defense. The mechanism of their action is associated with the activation of their own immune cells, the detection (findings) of atypical cells, the connection of their receptor zones. This group of drugs is commonly used in advanced invasive cancer to increase life expectancy and improve its quality.


There are no specific means of preventing breast cancer. The basis of prevention is the observance of a healthy lifestyle and careful monitoring (including medical) for the state of their health.

Preventive measures include:

proper nutrition;
rejection of bad habits;
timely treatment of diseases of the mammary glands and the female sexual sphere;
hormonal disorders connection;
regular visit to the gynecologist;
preventive mammography 1-2 times a year for all women over 45;
self-examination of mammary glands and regional lymph nodes.

The most important condition for early detection of breast cancer is regular self-examination. To do this, it's necessary to stand in front of the mirror, inspect the shape and symmetry of the glands, throw one hand over the head, and touch the mammary gland with the second hand, moving in a circle. Repeat all the same on the other side. Then, you should try to find the axillary lymph nodes: normally they are either not probed, or represented as a small mobile painless ball. Now you should try to squeeze out the liquid from the nipple gently: there should not be any excretions outside the lactation (a slight detachment of the whitish liquid is allowed for 5-6 months after feeding). Complete the procedure with palpation of the mammary glands in the prone position.

Self-examination is recommended to be carried out at least 1 time per month in the first half of the menstrual cycle - preferably 5-7 days after the end of menstrual bleeding, when the gland has the softest structure.

Your future in your hands!

The DNA test is a highly informative method for determining the genetic predisposition to breast cancer. Having passed the test, you will receive unique information about the degree of risk of the disease and will be able to make an individual plan of preventive measures together with the attending physician.

Advanced the disease: take the DNA test and make early tumor prevention even more effective.