BRCA1 and BRCA2: genes to know the risk of breast cancer

The genetic risk for breast cancer has as its main objective to verify the risk of developing the disease, in addition to allowing the doctor to know what mutation is associated with the cancerous alteration.

This type of test is usually indicated for people who have close family members who were diagnosed with breast cancer before the age of 50, ovarian cancer or male breast cancer. The test consists of a blood test, which, using molecular diagnostic techniques, identifies one of the worst mutations associated with susceptibility to breast cancer, and the main markers requested in the test are BRCA1 and BRCA2.

It is also important to have regular examinations and to be attentive to the first symptoms of the illness, for an early diagnosis and the beginning of an adequate treatment. See how to identify the first symptoms of breast cancer.

How the genetic test is carried out

The genetic test for breast cancer is made from a small sample of blood that is sent to the laboratory for analysis. To carry out the examination, no special preparation is necessary, it is not painful and the maximum that can occur is an illness at the moment of taking it.

The main objective of this study is to evaluate the BRAC1 and BRCA2 genes, which are tumor suppressor genes, preventing the proliferation of cancer cells, however, when there is a mutation in some of these genes, the function of stopping or delaying the development of the tumor is seen. affected, with proliferation of tumor cells and as a result of cancer development.

The type of methodology and mutation to be investigated is defined by the doctor, being able to indicate the accomplishment of:

  • complete sequencing, where the entire genome of the person is seen, making it possible to identify all the mutations that it poses;

  • genome sequencingin which only specific regions of DNA are sequenced, identifying mutations present in those regions;

  • Specific mutation investigationin which the doctor indicates which mutation he wants to know and specific tests are carried out to identify the desired mutation, since this method is the most suitable for people who have family members with some genetic alteration that has been identified for breast cancer;

  • Isolated investigation of insertions and eliminationsin which alterations in specific genes are verified, being this methodology more suitable for what is a secuenciamiento but it needs to be complemented.

The result of the genetic test is sent to the doctor and the report contains the method used for detection, the presence of the genes and the mutation identified in case it is present. In addition, depending on the methodology used, the report can include how the mutation or gene is expressed, what can help the doctor to verify the risk of developing breast cancer.

Examen Oncotype DX

The Oncotype DX exam is also a genetic exam for breast cancer, which is carried out from the analysis of breast biopsy material, and has the objective of evaluating the genes related to breast cancer through molecular diagnostic techniques such as RT-PCR. In this way, it is possible for the doctor to indicate which is the best treatment, and if chemotherapy can be avoided, for example.

This exam is able to identify breast cancer in the initial stages and verify the degree of aggressiveness and how the response to treatment would be. Therefore, it is possible to carry out a more specific treatment for cancer, avoiding the secondary effects of chemotherapy, for example.

The Oncotype DX exam is carried out by recommendation of the oncologist and the result is delivered in approximately 20 days.

When should it be performed

The genetic test for breast cancer is an exam recommended by an Oncologist, Mastologist or Geneticist, based on the analysis of a blood sample and recommended for people who have family members diagnosed with male or female breast cancer before age 50 ovary cancer in any age. Through this test, it is possible to know if there are mutations in the BRCA1 or in the BRCA2 and, therefore, verify a possible development of breast cancer.

In general, when the presence of mutations in these genes is indicated, it is probable that the person will develop breast cancer throughout life. The doctor will identify the risk of manifestation and development of the illness, so that preventive measures can be adopted.

Possible results

The test results are sent to the doctor, which can be positive or negative. The genetic risk is positive, when the presence of mutation in at least one of the genes is verified, but it does not necessarily indicate that the person will tend to cancer, in the age that can happen, and it is necessary to carry out quantitative tests.

However, when a mutation in the BRCA1 gene is detected, for example, there is a possibility of up to 81% of developing breast cancer, it is recommended that the person undergoes an annual magnetic resonance imaging, and in addition, as a form of prevention to carry out it mastectomy.

The negative genetic possibility is the one in which no mutation was found in the analyzed genes, but there is still a possibility of developing cancer, despite the fact that a medical follow-up is necessary through regular examinations. Find out about other exams that confirm breast cancer.

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Consult a Doctor | Translated by User2937

Content for educational purposes only

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Disclaimer – (English version>) This content has been prepared based on information from research, additional publications, or the translation/verification work of a volunteer editor of This is a non-profit service. It is strongly recommended that all details and information published be carefully verified with your trusted doctor, this being just a vehicle for basics about certain healthy behaviors, conscious food consumption and other notions. We never allow medication recommendations, medication package inserts or any medication guidance.

Disclaimer – (Portuguese version>) Este conteúdo foi elaborado com base em informações de pesquisas, publicações adicionais ou pelo trabalho de tradução/verificação de um editor voluntário de Trata-se de um serviço sem fins lucrativos. É fortemente recomendado que todos os detalhes e informações publicadas sejam cuidadosamente verificados com seu médico de confiança, sendo este apenas um veículo para noções básicas sobre determinados comportamentos saudáveis, consumo consciente de alimentos e outras noções. Nunca permitimos recomendação de medicamentos, bulas de remédios ou qualquer orientação medicamentosa.

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