Genetic tests for breast and ovarian cancer – when to do it and what are the benefits?

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Genetic tests for breast and ovarian cancer can detect a predisposition to these diseases. Prevention is crucial as these cancers are common in women and late detection worsens the prognosis. Mutations of specific genes detected in genetic tests indicate a higher risk of breast and ovarian cancer by up to several dozen percent.

Breast and ovarian cancer – risk of occurrence

It is commonly accepted that women in their 40s and 50s most often suffer from breast or ovarian cancer. While the risk does increase with age, it is not the only factor contributing to the development of these cancers. The heredity of concrete is of great importance genetic mutationsthat are associated with the formation of neoplastic changes.

If a woman has a history of breast or ovarian cancer, the risk of developing the disease increases and women in their 20s may be at risk. Due to the hereditary nature of the breast cancer and ovarian cancer syndromes, women at risk should have regular tests from the age of 20 or 25. Diagnostics should not be postponed. To make sure that cancer risk applies to us, it is worth performing appropriate DNA tests.

1. Find out more about what genetic tests are and how they work.

When to do genetic tests?

Neoplastic diseases detected too late in many cases have poor prognosis. Therefore, medical appointments that will allow for earlier detection of changes are of key importance. However, in order to know how to direct preventive examinations, it is worth knowing the risks. This is what it is the role of genetic testing – they indicate the most likely conditions that a person could develop.

Applying for DNA tests to study genes whose mutations are responsible for breast and ovarian cancer is a preventive measure. Although the analysis of genetic material is not used for diagnosis, it allows for risk assessment and taking appropriate preventive measures. It is worth remembering that ovarian and breast cancer are at the forefront the most common neoplastic changes occurring in women.

Genetic tests in the prevention of cancer of the breast and ovaries are recommended:

1. in the case of breast and ovarian cancer in the immediate family (e.g. mother, sister, daughter) – it is worth being aware that breast (nipple) cancer can also affect men;
2. when there have been cases of malignant or rare tumors in the family;
3. when a specific type of neoplastic disease in a family affects several generations;
4. when carcinoma of the dog or ovaries has been detected and genetic testing is to help in selecting the appropriate therapeutic therapy;
5. when a woman has already suffered from breast or ovarian cancer – genetic diagnostics will allow to assess the risk of recurrence of the disease;
6. when a woman plans to use hormonal contraception, especially if any changes in the ovary or breast are detected.

Gene mutations responsible for breast and ovarian cancer

Mutations that may herald the emergence of neoplastic changes in the breast and ovaries usually concern several specific genes. The BRCA1 gene has the highest accuracy in cancer diagnostics. If genetic tests detect the BRCA1 mutation, a woman may develop breast or ovarian cancer with a 50-80% higher probability, respectively. and 40 percent, than if this mutation did not exist. Price of the BRCA1 test it is an average of PLN 300-400.

In tandem with BRCA1, it is also frequently tested gen BRCA2which also increases the risk of developing these cancers. The other genes that are checked for mutations in genetic tests for breast and ovarian cancer are: CHEK2, NBS1, NOD2, CDKN2A and CYP1B1. Changes in these genes are also observed in other cancers.

The prices of individual tests may depend on how many mutations of a given gene are taken into account in the test. An example is CHEK2 – the cost of the test for one type of change may not exceed PLN 100, while in the case of four mutations, the price ranges from PLN 370 to PLN 470. An extended package of several genetic tests may therefore cost us PLN 700–1000, depending on the number of genes tested and the valuation of a specific laboratory.

1. Read more about detecting cancer: Cancer Markers for Women – Help with Cancer Diagnosis

Breast and ovarian cancer – the course of genetic tests

Laboratory genetic tests are performed on the basis of a blood test or an oral swab. When deciding to execute DNA analysis for diagnostic purposes, an appropriate statement must be submitted, i.e. consent to conduct such a test. The patient does not have to come to the test on an empty stomach, but should follow the general rules regarding blood collection. If you are analyzing your saliva sample, you should wait two hours before you prepare your saliva, drink and smoke.

The waiting time for genetic test results is usually no more than a few weeks. It is important to see a specialist with the results. He will be able to refer the results of the examination to the medical history and suggest further diagnostic or treatment procedures.

Genetic testing – what next?

If, on the basis of the results of genetic material testing, the doctor determines that the patient belongs to the high-risk group, systematic preventive examinations should be the main recommendation. Mammography, ultrasound and MRI of the breast, and a tomography or ultrasound scan of the ovaries may be performed to make sure that the breast or ovarian cancer has not started to develop. Gynecological examination is important, as well as the determination of tumor markers. In many cases, cancer can be cured, but you must act early.