Breast cancer: genetic test allows early treatment – 04/07/2024 – Health

The genetic test to find out if a person is likely to develop cancer is carried out by collecting a simple blood or saliva sample and can save more than one life — that of the patient and everyone who shares the same genetic history with him. . The procedure has existed for around a decade, but, according to experts in the field, there has been a significant advance in understanding the codes revealed, allowing for faster results and more precise preventive treatment.

“What changed was the reading of genes, which became more complete. We read [agora] part of the genes that we previously couldn’t. Furthermore, as more people are taking the test, we know a greater number of mutations and can classify them better”, says doctor Bruna Zucchetti, oncologist specializing in breast cancer at Hospital Nove de Julho

Prophylaxis in these cases ranges from the use of medications that act specifically on the type of mutation found to the indication of risk-reducing surgery. In the case of BRCA1 and BRCA2 mutations, for example, the doctor may request the removal of ovaries (oophorectomy), mammary glands (adenomastectomy), fallopian tubes and uterus (hysterectomy) to prevent the development of aggressive cancer.

BRCA 1 and 2 mutations can be presented by men and women, being indicative of genetic risk for breast cancer (male and female), ovaries, pancreas and prostate.

“The genetic test does not diagnose cancer. In patients who already have [a doença]is done to guide follow-up and the need for prophylactic surgeries to reduce the risk of new cancer”, says Zucchetti.

The exam, therefore, helps to define the best treatment and guides the testing of other family members. This was the case of interior designer Jacqueline de Souza Murad Praxedes, 59, whose older sister discovered advanced ovarian cancer.

“My sister, nieces and I did the genomic test in 2021 and it was positive for BRCA1. We all had our uteruses and ovaries removed,” says Praxedes.

The designer, even in menopause since 2016, had been experiencing constant bleeding, but still had no signs of cancer in her condition. The result of the biopsy after removal, however, showed that she already had a small malignant tumor in the tube that did not yet appear on imaging tests.

“I then underwent injectable chemotherapy and, after finishing, oral chemotherapy for two years. I’m fine, I undergo exams regularly and, with God’s blessings, at the end of the treatment I will be completely cured”, says the designer.

Her sister, unfortunately, did not have the opportunity for preventative treatment and died a year ago, but her journey helped save her sisters and nieces from a condition similar to hers.

DNA for BRCA 1 and 2 mutation research is extracted from cells in a blood sample, which can be collected by anyone and without the need for any prior preparation. The recommendation of the American Society of Oncology is that all women under the age of 65 who are diagnosed with breast cancer, regardless of family history, undergo genetic testing.

“Risk-reducing — or prophylactic — surgery considerably reduces the chance of developing a breast and ovarian tumor,” warns Zuchetti. The removal of mammary glands is done on both sides and before the age of 40.

The ovaries are also recommended to be removed bilaterally, but after the age of 40. “It is recommended that all women diagnosed with a BRCA 1 or 2 mutation undergo these two prophylactic surgeries”, points out the oncologist.

The mammary glands are responsible for producing breast milk and do not produce hormones in the body. In the case of pregnancy, it will not be possible for patients to breastfeed, but Zuchetti states that there is no need for any hormone replacement and that the reconstruction of female breasts is carried out with a silicone prosthesis, with standard post-surgical care procedures.

Zuchetti says that genetic tests have become more accessible, but they still face barriers to being carried out via the public network and even through health insurance plans, but that the expectation for the future is that more patients will have access and be able to perform the test.

Oncologist Mariana Scaranti, national leader of oncogynecology at Dasa, says that research into mutations in the BRCA1 and 2 genes in patients with ovarian cancer makes it possible to identify those who benefit from therapy with drugs called PARP inhibitors, as well as those who need greater surveillance for breast tumors.

“PARP inhibitors have brought enormous benefit with reducing the risk of disease recurrence in patients with advanced ovarian cancer and mutations in BRCA1 and 2. In breast cancer with high recurrence risk criteria, maintenance with a PARP inhibitor after completion chemotherapy also brought benefits by increasing the patients’ chances of cure”, says the oncologist.

Scaranti recalls that there is no effective screening test for ovarian cancer and that removal surgery in women with BRCA 1 and 2 mutations is essential to protect these patients.

“We managed to preserve the quality of life of these women, as well as protect cardiovascular and bone health with hormone replacement. Disseminating quality information about the benefits of testing in patients with breast or ovarian cancer means that myths and fears are replaced by security of knowing a condition through individualized prevention and treatment strategies”, says the specialist.

Lawyer Débora dos Reis Lopes, 41, says that the test was essential in defining her treatment, which, in addition to chemotherapy, included the removal of both breasts and ovaries instead of a more conservative surgery just to remove the tumor. “I took the exam because I was diagnosed with breast cancer when I was 38 years old and I had the BRC1 variation with a very high chance of recurrence. I was sad. It’s not an easy decision and I didn’t make it in the heat of the moment. It brought some limitations, But I don’t regret it,” he says.

The variant came from his paternal family and Lopes informed everyone to also take the test. “My father, brother and sister did it, I don’t know if my cousins ​​decided to do it, but I did my part of informing them. If I had had the opportunity to know that I had this genetic predisposition, I would have wanted it. It’s not easy to go through the diagnosis and cancer treatment, it’s quite cruel. So I’m grateful that technology and medicine have advanced and, even though I paid privately, I had access to the test”, says Lopes.

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