28.03.2024

Hereditary breast cancer: causes, symptoms, treatment

Hereditary breast cancer – is it malignant tumor of epithelial cells, whose appearance is caused by a genetic mutation. Increased risk of this tumor is from blood relatives.

Many of the characteristics of hereditary breast cancer characteristics similar to other malignant tumors. But also there are some features of this tumor is a more early onset, high frequency of bilateral lesions and the frequent combination of tumors that develop in other organs and tissues.

In the diagnosis of the pathology should be taken into account family history and the results of molecular genetic analysis.

General data

The essence of the hereditary breast cancer – its occurrence due to a genetic mutation that is passed from generation to generation. Almost all malignant tumors of the installed component hereditary – but hereditary breast cancer is among the most common hereditary forms of cancer.

In the structure of all breast tumors in this condition accounts for between 5 to 10% of all diagnosed clinical cases.

From other malignant tumors of the breast pathology is characterized by the fact that very often has an early start – the first symptoms appear in women under the age of 50 years. Most often the disease is diagnosed in women aged 55 to 60 years.

Depending on regions the prevalence of bilateral lesions of the mammary glands in this disease ranges from 5-20% to 60%.

Reasons

In contrast to the maximum of non – malignant and malignant neoplasms, the causes of which are unknown to this day, factors of hereditary breast cancer is known is adjustment in the set of genes. Identified a number of genetic mutations, the development of which increases the likelihood of breast cancer. Most often, when this disease revealed mutations of genes code named BRCA1 and BRCA2.

By identifying mutations became possible to diagnose hereditary breast cancer in the early stages of its development. But the research continues – gene mutations that have been studied to date, provoke the development of disease described only in 20-30% of patients with familial cases of breast cancer. In the remaining patients the occurrence of this malignant pathology is triggered by other types of gene mutations – also revealed that women in different regions of the world, this pathology occurs due to different genetic mutations.

Due to gene mutations along with increased risk of developing hereditary breast cancer in women increases the risk of other malignancies – not just gynecological sphere (on the localization of lesions will be discussed below).

Also studied a number of factors, against which the risk of hereditary breast cancer in carriers of mutant genes increases. It is such groups of factors as:

  • features of gynecological history;
  • long-term use of some medicines;
  • endocrine disorders;
  • pathology of the metabolism;
  • some cardiovascular disease;
  • bad habits;
  • the presence of benign proliferative changes in the breast tissue;
  • some pathology of the female genital organs.

Of all the characteristics of gynecological history is at increased risk of hereditary breast cancer point:

  • early menarche – first menstrual bleeding. This factor is very often detected during the collection of anamnesis in patients diagnosed with hereditary breast cancer;
  • late start of menopause – the period of life during which a change in activity of the sex glands in women, associated with the approach of old age and involutive (coupled with extinction) changes in the gonads;
  • the absence of a history of pregnancies and childbirth.

It is established that the risk of “implementation” defective hormones and the development of hereditary breast cancer associated with taking medicines, most increases with long-term hormonal medications.

Endocrine disruption, against which the probability of occurrence of this pathology increases, this is most likely:

  • diabetes – the metabolism of carbohydrates, which occurs due to persistent shortage of insulin in the body;
  • hypothyroidism is the insufficient synthesis of thyroid hormones;
  • hyperthyroidism – excessive production of thyroid hormones;
  • insufficiency of the adrenal cortex.

Of all the pathologies of exchange often a risk factor of this disease is obesity – excessive deposition of fat in the body, which is associated with excessive absorption of food, reduced energy consumption, as well as some violations from the side of the body (particularly hormonal).

Cardiovascular diseases that often provoke the appearance of this pathology is:

From bad habits most of all in the light of the emergence of hereditary breast cancer should be aware of…

  • Smoking. Ill describe pathology risk not only an avid smoker with the experience, but women who, in their words, “just a little bit of smoke” – smoke no more than 1-2 cigarettes a day or a few days, but smoke regularly. On the other hand, the risk of hereditary breast cancer in these women increases with the experience of Smoking;
  • the abuse of alcohol.

Benign proliferative changes in breast tissue that are the risk factor of this pathology are:

  • mastitis – morphological lesions of the mammary glands, the emergence and development of which is associated with hormonal imbalance (particularly from the female sex hormones);
  • benign tumors.

Almost all mastitis is a risk factor, against which increases the possibility of disease hereditary breast cancer. Is this mastitis:

  • adenosine (ferrous);
  • fibroadenomas (glandular connective tissue);
  • fibromatosis (connective tissue with the presence of cysts);
  • hub

and others.

Hereditary breast cancer is more “willing” occurs on the background of almost all well-known breast tumors is:

  • lipoma – fatty tumor;
  • fibroma – connective tissue tumor

and others.

It is revealed that the disease occurs more often in women who have been diagnosed with some diseases of female genital organs – namely:

and some others.

The development of the pathology

You must remember that if you have one close relative that has been identified for hereditary breast cancer, the risk of developing this tumor from other members of the family female is increased twice. If a family was identified for two patients, the risk of development of described pathology is increased five times. The likelihood of developing hereditary breast cancer increase even more if one or more relatives of the first signs of the disease appeared before the age of 50 years.

It should also be borne in mind that in the event of hereditary breast cancer is high, the likelihood of cancerous lesions in women of other organs and tissues – most often it is:

  • ovaries;
  • the endometrium (inner lining of the uterus);
  • the colon;
  • stomach;
  • pancreas;
  • bladder;
  • the skin (particularly developing melanoma of the skin).

This means that in the case of the described diseases, it is mandatory to examine all the authorities mentioned.

With the development of hereditary breast cancer often increases the risk of developing ovarian cancer in second place on the incidence of malignant neoplasms of the endometrium. Lower in the presence of hereditary breast cancer is the risk of malignant transformation of the tissues of those organs that are not related to the female reproductive system.

Symptoms of hereditary breast cancer

The early stages of hereditary breast cancer is characterized by asymptomatic. Quite rare early in the disease may appear:

  • pain in the breast (often observed in the presence of a particular form of mastopathy);
  • abdominal pain during menstruation. Have those women who have algomenoreya (pain during menses), and amplified in those patients who had previously complained of such pains in the abdomen.

Often a woman identifies themselves, the tumor earlier than you get a detailed clinical picture of pathology. The tumor in such cases is determined by:

  • accidentally – in carrying out hygienic procedures or during examination at the clinic (preventive or about another disease). Referred to the situations when the presence of tumor formation in women inadvertently revealed their sexual partners;
  • during a focused independent review recommended mammalogie and gynecologists.

Tumor characteristics:

  • the form – in the form of node;
  • location – can be located in different parts of the breast;
  • size – 1 cm in diameter or larger;
  • consistency – medium density;
  • sensitivity – in the early stages the site is a little sensitive, late – painful.

With further progression of hereditary breast cancer manifests itself clinical symptoms such as:

  • discharge from the nipple;
  • swollen lymph nodes;
  • the skin over the tumor;
  • deformation of the breast;
  • symptom lemon peel;
  • ulceration of the tissues;
  • signs of violations of the General condition of the body.

The characteristics of nipple discharge:

  • the number – scarce;
  • colour – whitish or colorless;
  • transparency – transparent;
  • smell – without peculiarities.

With the development of the disease observed increase in axillary lymph nodes from the affected breast. Involvement of lymph nodes on the other hand perhaps with further progression and the appearance in them of metastases.

Changes to the skin covering the tumor, the following:

  • appears and increases wrinkling of the skin;
  • developing umbilicaria – the retraction of the skin over the tumor;
  • appears a symptom of the site – a section of breast tissue over the tumor becomes as flat as a Playground.

Deformation of the breast and a symptom of the lemon peel (skin of the breast looks like the skin of a lemon) appear at later stages of disease, it is also possible ulceration in the form of defects of the skin over the tumor.

Signs of violations of the General state of the organism appear in the later stages. Their development is associated with the ingress into the bloodstream of waste products of tumor cells and degradation products of dead cells.

These include:

  • the deterioration of disability, both physical and mental;
  • General weakness and lethargy;
  • constant discomfort;
  • aversion to meat;
  • poor appetite, and more – and its complete absence;
  • hyperthermia – increase in body temperature. Often the temperature is subfebrile is 37.3-37.5 degrees Celsius. The temperature can rise to higher numbers in the accession of infectious complications of hereditary breast cancer.

In the later stages of the disease is also showing signs of dysfunction of those organs that have been affected by cancer metastases.

When different genetic mutations for hereditary breast cancer may differ:

  • tumors that form in women carriers of the BRCA1 gene, have a high degree of malignancy;
  • for cancer associated with BRCA2 mutations, the more favourable.

Features of the disease regardless of which gene mutation caused it are:

  • a high probability of contralateral lesions – that is, the occurrence of tumours in the other breast. This risk is higher than when the disease is sporadic (common) cancer of the breast;
  • high likelihood of cancer recurrence in the same breast once was held so-called organ-saving operations – that is, removal of the cancerous tissue and preservation of the breast.

To understand the tendency of hereditary breast cancer to relapse statistics: average breast cancer recurs in 1-1,5% of cases during the year, with a hereditary form of cancer of the prostate contralateral tumors detected in 42% of patients, ipsilateral (the same breast where the cancer originally arose) – 49%.

Diagnosis

The diagnosis of hereditary breast cancer is posed, based on complaints of patients, anamnesis (history) of the disease, results of additional methods of research – physical, instrumental, laboratory.

Particularly important in the diagnosis are:

  • family history – the detection of the disease in blood relatives (grandmothers, mothers, sisters);
  • the results of molecular genetic studies.

Genetic testing is not common due to its complexity and cost, therefore, the diagnosis of hereditary breast cancer is involved in the case were identified to family anamnestic signs described disease, namely:

  • the presence of disease in relatives;
  • early start;
  • the high frequency of bilateral lesions of the breast.

Instrumental methods of examination used in diagnostics of hereditary breast cancer are the following:

  • mammography – a series of instrumental methods for the comprehensive examination of the breast;
  • ductography – x-ray examination of the breast after the introduction of its ducts contrast agent;
  • breast biopsy – do the fence of fragments of suspicious tissues and their subsequent study under a microscope.

During mammography are involved in such methods of examination as:

  • x-ray mammography;
  • ultrasound mammography – with its help it is possible to identify the tumor node, set its size and shape, to assess the condition of the surrounding tissues;
  • tomosynthesis is the creation of a two-dimensional image of the breast, which detects the tumor;
  • magnetic resonance (MRI), mammography is the method of obtaining a tomographic image of the breast;
  • optical mammography – breast examination using special optical equipment.

To identify distant metastases are instrumental methods of diagnostics as:

  • chest radiography – using x-ray pictures can reveal metastatic lesions in pulmonary parenchyma;
  • scintigraphy of the whole skeleton – the body is injected radioactive preparations, radiation which is then fixed with a special gamma camera is obtained a colored image is analyzed for changes;
  • ultrasound examination of the liver (ultrasound) – echo study of the liver parenchyma;
  • magnetic resonance imaging of the brain (MRI).

Laboratory methods used in diagnosis of the disease described it:

  • General analysis of blood cancer is significantly increased erythrocyte sedimentation rate;
  • histological study – the study of the biopsy on the subject of the structure of tissues;
  • Cytology – the study of the biopsy material for the presence of tumor cells.
Differential diagnosis of

Differential (distinctive) the diagnosis of hereditary breast cancer are often carried out with such pathologies as:

  • sporadic (common) cancer of the breast – a malignant tumor formed from epithelial cells;
  • benign tumors of gland;
  • abscess – limited ulcer;
  • tuberculous focus.
Complications

The most frequent complications that accompany hereditary breast cancer are:

  • abscess of the breast – a limited abscess, which develops when joining the infectious agent;
  • phlegmon of the breast is diffuse purulent lesion that develops for the same reasons that abscess of the breast;
  • tumor invasion into neighboring structures, particularly in the thoracic wall, the pleura and parenchyma of the lungs;
  • metastasis – movement of cancer cells through the blood or lymphatic channels into other organs and tissues with the formation of secondary metastatic malignant tumors;
  • cancer intoxication – poisoning of the body with waste products of tumor cells and their decay products. There is in the late stages of the disease;
  • cancer cachexia is the depletion of the patient, which occurs in the later stages of the cancer process and is caused by malfunction of the organs to which the tumor had metastasized, and cancer intoxication.
The treatment of hereditary breast cancer

Patients with hereditary breast cancer are treated by an oncologist and mammologist. Methods of treatment of this pathology are:

  • chemotherapy;
  • radiation therapy;
  • surgical treatment.

Previously, hereditary breast cancer is treated in the same manner as sporadic – now methodology changed based on the fact that the sensitivity of hereditary breast cancer to specific chemotherapeutic agents can be different than the sensitivity of sporadic cancers.

In connection with the tendency of hereditary breast cancer to recurrence shows radical mastectomy – removal of the entire breast, and then selected the…

Prevention

The basis of prevention of hereditary breast cancer – the following measures and actions:

  • hormonal medications only under the supervision of a physician;
  • prevention of endocrine diseases, diseases of metabolism, cardiovascular abnormalities, mastitis, and benign tumors of the breast, diseases of female genital sphere, and when they occur – early detection and adequate treatment;
  • avoiding harmful habits;
  • regular saloonmore;
  • regular preventive checkups mammography, mammography is not less than 1 time per year;
  • healthy lifestyle – balanced diet, the correct mode of work, rest, sleep, sex, avoidance of stress and psycho-emotional surge, physical education.

At high risk of developing this form of cancer can play a preventive bilateral mastectomy, in some cases combined with oophorectomy (removal of ovaries).

The prognosis of hereditary breast cancer

The prognosis of hereditary breast cancer in the first place, because of the tendency of the tumor to relapse. Increase the duration of life can be achieved with radical surgery – removal of the breast.

One thought on “Hereditary breast cancer: causes, symptoms, treatment

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