Genetic Testing For Breast Cancer

Genetic Testing For Breast Cancer

About Breast Cancer

It is the most common cancer in women in the developed world where it affects about 100 per 100,000 women annually. Estimates indicate that every 9th woman shall be affected by it in the future. White women over the age of 35 are most affected. Other races show lower incidence of this disease. The lowest incidence is in the Southeast Asia and in Africa. Breast cancer can also affect men, but it is 100 times less common than in women.

It is characterized by uncontrolled cell division. The cancer-modified cells may travel to other body parts, seed them and grow further. Medically speaking, they metastasize.

Why should you have your DNA tested for predisposition to breast cancer?

We examines genes for which a connection with breast cancer development was shown. Familial predisposition is a chapter in itself among risk factors. The greater the number of family members affected by it, the higher the risk of developing breast cancer. By knowing your risk for breast cancer development you can take appropriate preventive measures.

Causes for development

The exact cause of breast cancer has not yet been elucidated, but certain risk factors affecting the development of it are known, including a long time period between the menarche (i.e. the start of menstrual cycles) and menopause (cessation of menstrual cycles), relatively late age at first pregnancy, obesity and a fatty diet. Oral contraceptives also increase the risk.

Familial predisposition is a chapter in itself among risk factors. It has been found that breast cancer appears much more commonly in close relatives than among random population. The greater the number of family members affected by it, the higher the risk of developing this cancer. Changes in BRCA1 and BRCA2 genes play an important role in familial predisposition. BRCA genes protect the breast cells from cancer. If these genes malfunction, the protection is gone and cancer may develop.

Disease recognition

The most common sign of breast cancer is a lump or thickening in the breast. Most lumps are harmless, but these changes should nevertheless be evaluated by a physician. Other potential signs of breast cancer include a clear or bloody nipple discharge; retraction or indentation of the nipple; change in the size or contours of the breast; any flattening or indentation of the skin over the breast; redness or pitting of the skin over the breast, resembling the skin of an orange.

The most important diagnostic activity that every woman should regularly perform is breast self-examination to check for possible changes that can be palpated in the breast. Only a fast and timely detection of changes can help diagnose cancer in the early stages when very effective therapy is still possible. Physicians employ various techniques to diagnose it. The best and most widely used is mammography which is an X-ray imaging of the breast. Unfortunately, mammography are not error-proof. It may happen that a harmless change is mistaken for it or, even worse, that it is overlooked. Besides mammography, the other examination options include a breast ultrasound, MRI or CT.

Biopsy of the disease-modified tissue is an absolute must in breast cancer diagnostics. In this procedure, a physician removes a tissue sample with a needle and sends it to the laboratory for histological examination. Biopsy results reveal the degree of cancer malignancy which aids in further therapeutic decision-making.

How is it prevented or treated?

Due to its genetic background, it is very hard to prevent cancer development. However, risk factors can be diminished by certain methods, including taking hormonal pills which do not increase cancer risk. Due to the development of various techniques, the best treatment option is a surgery. In addition to surgery, there are other therapies such as radiotherapy, chemotherapy, hormonal therapy and therapy with biological drugs.

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