Genetics for breast cancer: how to do it and when it’s indicated

The main goal of genetic breast cancer testing is to assess your risk of developing breast cancer, as well as to tell your doctor which mutation is associated with cancer deterioration.

This type of test is usually indicated for people who have close relatives who have been diagnosed with breast cancer before age 50, ovarian cancer, or breast cancer in men. The test consists of a blood test that, using molecular diagnostic techniques, identifies one or more mutations associated with susceptibility to breast cancer, the main markers requested in the BRCA1 and BRCA2 test.

  • It is also important to have regular checkups and to be aware of the first symptoms of the disease so that the diagnosis is made early and treatment begins.
  • Learn how to identify the first symptoms of breast cancer.

The genetic test for breast cancer is done by testing a small blood sample, which is sent to the lab for testing. No special preparation or fasting is required to perform the scan and this does not cause pain, the most that can happen is a slight discomfort at the time of collection.

The main purpose of this test is to evaluate the BRCA1 and BRCA2 genes, which are tumor-suppressing genes, i.e. prevent the proliferation of cancer cells. However, when a mutation occurs in any of these genes, the function of stopping or delaying tumor development is altered, with tumor cell proliferation and therefore the development of cancer.

The type of methodology and mutation to be sought is defined by the physician and the performance of:

The genetic test result is sent to the doctor and the report contains the method used for detection, as well as the presence of genes and the identified mutation, if any. In addition, depending on the methodology used, the report may indicate the extent to which the mutation or gene is expressed, which may help your doctor verify your risk of developing breast cancer.

The Oncotype DX test is also a genetic test for breast cancer, which is performed from breast biopsy equipment testing and aims to evaluate breast cancer-related genes using molecular diagnostic techniques, such as RT-PCR. This way, your doctor may order the best treatment and chemotherapy may be avoided, for example.

This test can identify breast cancer at an early stage and check the degree of aggression and response to treatment. Therefore, more targeted cancer treatment may be performed, for example avoiding the side effects of chemotherapy.

The Oncotype DX test is available in private clinics, should be done oncologist’s recommendation, and the result is published, on average, at 20 days.

The genetic test for breast cancer is a test indicated by the oncologist, mastologist or geneticist, based on the analysis of a blood sample and recommended for people whose relatives have been diagnosed with breast cancer, women or men, before age 50. Or ovarian cancer at any age. Thanks to this test, it is possible to know if there are mutations in BRCA1 or BRCA2 and, thus, it is possible to check the risk of developing breast cancer.

Usually, when there is an indication of mutations in these genes, the person is likely to develop breast cancer throughout their life. It is up to your doctor to identify the risk of disease outbreaks so that preventive measures are taken based on the risk of developing the disease.

Test results are sent to your doctor as a report, which may be positive or negative. Genetic testing is said to be positive when a mutation is verified in at least one of the genes, but they do not necessarily indicate whether the person will have cancer or the age at which it can occur, requiring quantitative testing.

However, when a BRCA1 gene mutation is detected, for example, there is a risk of developing breast cancer by up to 81%, and it is recommended that the person undergo an MRI annually, in addition to being able to undergo a mastectomy as a means of prevention.

Negative genetic testing is one in which no mutations have been found in the genes analyzed, but there is still a risk of developing cancer, although it is very low, requiring medical follow-up through periodic examinations. See other tests that confirm breast cancer.

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