Genetic diagnostics – identification of BRCA1 and BRCA2 genes

BRCA1 BRCA2 genes are suppressors, that is, they regulate the process of proper cell division and trigger DNA repair in case of damage. If there are mutations in these genes, they do not perform their function. Accordingly, risk of breast cancer and cancer of other locations (ovaries, prostate in men, pancreas, uterus, melanoma, leukemia) increases significantly. About 6-10% of breast cancer and 10% of ovarian cancer are associated with mutations of these genes.

Testing for these mutations presence is not recommended for all women. Situations when you definitely need to be examined:

• Age of cancer detection is less than 45 years.
  
• Certain types of breast cancer tumors by histology.
  
• Diagnosed with cancer of 2 mammary glands or a combination of breast cancer and ovarian cancer.
  
• Family history of breast cancer or ovarian cancer (at an early age up to 50 years), prostate cancer in male relatives, breast cancer in men in family.
  
• If a relative has this mutation.
  

Mammography

It is performed once every 2 years, starting from the age of 40 or after 25-35 years, if woman is at high rather than average risk for breast cancer. After 50 years – mammography every year.

Mammography is an x-ray examination of mammary glands. The advantages of this method are excellent visualization and information content, the presence of documentary evidence that allows you to evaluate dynamics and create an archive of images.

Ultrasound of mammary glands

This is a very informative and safe method that can be used if necessary, as well as in cases where mammography is uninformative or contraindicated (pregnant, nursing mothers, young women with high density of breast tissue, when visualization during mammography is difficult).

Biopsy

Breast puncture is a minimally invasive, but quite traumatic procedure, so it is performed in a day hospital and takes about 1 hour. If patient wishes, doctors perform local or general anesthesia to minimize discomfort and pain during the procedure. All our doctors are proficient in ultrasound examination techniques, so all punctures are carried out under ultrasound control so that doctor is sure that tissue is taken from required place.

Samples of biological material are sent for testing to the best Israeli pathohistological laboratories. Thanks to such “molecular tests”, we are confident in final diagnosis correctness and effectiveness of an individually selected treatment regimen.

Modern treatment methods in mammology

Undoubtedly, the main treatment method in mammology is surgery. Thanks to early diagnosis and modern effective methods of therapy, patients can completely recover from the disease and at the same time preserve mammary glands.

Surgery

Our doctors try to perform only breast-conserving surgeries (i.e. without the entire mammary gland removing), which is very important for any woman and in future prevents serious psychological problems associated with complete removal of mammary glands. New generation surgical interventions make it possible to effectively remove all pathological tissue and preserve surrounding healthy breast tissue as completely as possible.

Our mammology oncologists are masters of following modern organ-preserving surgeries on mammary glands:

• hemimastectomy with lymphadenectomy,
  
• lumpectectomy,
  
• radical sectoral resection,
  
• quadrantectomy with lymphadenectomy,
  
• subtotal resection with lymphadenectomy,
  
• subcutaneous mastectomy with lymphadenectomy. 

In cases where organ-preserving intervention cannot be performed, mastectomy is used. This is radical and complete removal of mammary gland. Depending on specific clinical situation, process of tumor’s spread and surgeon’s technique, certain types of mastectomy are performed.

If, due to a difficult clinical situation, surgeons still had to remove a woman’s breast completely, then woman is offered reconstructive plastic surgery. Breast implants can be installed immediately during a mastectomy as the final stage of surgery, or plastic surgery can be performed as the final stage of treatment after a course of chemotherapy and/or radiation therapy. This approach ensures a rapid recovery for patient and significantly reduces risk of psychological problems and depression after radical treatment for breast cancer.

In a large number of countries, when surgery for breast cancer is performed, lymphadenectomy (removal of lymph nodes) is performed to in 90% of cases. This is associated with certain types of complications in future – lymphostasis. At Tel Aviv Medical Center, breast surgeons perform sentinel lymph node biopsies. Surgeon removes the first lymph node along the path of tumor; if it is “clean”, then the rest are not touched, which helps to avoid severe lymphostasis after surgery.

Chemotherapy

This is a method of treating malignant tumors by introducing drugs into the body that stop malignant cells growth. As a rule, it is not used as monotherapy. Specialists combine chemotherapy with surgical interventions. Sometimes chemotherapy can be used as an independent treatment method, but only for palliative purposes.

For cancer treatment, Tel Aviv Medical Center uses only original drugs from well-known European, Israeli and American manufacturers. Due to the high quality of medicines, risks of side effects are minimal.

Patients with breast cancer can avoid chemotherapy. This became possible thanks to introduction into practice of a special genetic test developed in Israel – Oncotype DX. A certain part of malignant neoplasms of mammary glands are non-aggressive in nature and do not require chemotherapy after radical surgery to prevent relapse. But how to understand it? This is where we use Oncotype DX test, which allows us to predict relapse risk in each individual case on a 100-point scale. If risk is assessed by mammologist as low, chemotherapy is not prescribed.

Targeted therapy

This is a treatment method with special antitumor drugs of the latest generation, which cannot be classified as classic chemotherapy. Targeted drugs “focused” on specific malignant cells of a certain type of tumor. They block signaling within these parasitic cells, leading to their death.

Hormone therapy

Currently, hormone therapy for breast cancer, along with surgical, radiation, chemotherapy and other treatment methods, is one of the main components of complex therapy for this serious disease. The choice of drugs is based on their safety and low toxicity, tumor cells sensitivity to the action of hormones. Introduction of effective hormonal agents has made it possible to abandon many disabling surgical interventions, for example, gonadotropin-releasing hormone analogues have replaced oophorectomy (ovaries removal). Therefore, women with a history of breast cancer may not have their ovaries removed (even those who have a high risk of combined cancer), but take hormones for a certain time, and after their cancelling, become pregnant on their own and bear healthy children.

Radiation therapy

Radiation therapy (external beam or contact) is often used in complex treatment of mammary glands malignant diseases. This is a treatment method in which malignant cells are destroyed under the influence of ionizing (radiation) emission.

In breast cancer, a radiation method such as brachytherapy can be used. In this case, radioactive material is placed in a capsule, which is implanted directly into site of malignant cells accumulation. Thus, we obtain desired effect at tumor’s site, while surrounding healthy tissue experiences minimal negative effects of radiation.

Our patients have access to a modern method of radiation therapy using alpha radiation – Alpha DaRT (diffuse radiotherapy). Alpha particles, unlike gamma radiation, have a short range of action, this has a positive effect on treatment results, since surrounding healthy tissues are practically not affected by this type of radiation therapy. Doctor, using special instruments in the form of needles, injects granules with radioactive material into the tumor, which emit alpha particles. When treatment is completed, they are taken back.

At Tel Aviv Medical Center, radiation therapy regimen is selected individually. Use only modern and safe equipment.

Also, all our patients can become participants in clinical trials using experimental innovative drugs and methods for treating breast cancer. Participation in program is free of charge, provided if patient meets all necessary parameters for study. For many women, this is a real chance of life, especially for those for whom standard treatments have failed.