Research on Breast Cancer Genes – Why Is It Important? Personalized oncology treatment is becoming more and more common

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Each year, more than a thousand women are diagnosed with bad cancer. For successful treatment, it is important to detect bad cancer as early as possible.

Personalized oncology treatments are becoming more common because they allow the patient to apply the appropriate treatment in a short time to determine the type of genetic mutation in the cancer cells.

Gene Liene Nikitin-Zaque, chairman of Gen Era Genetic Testing Laboratory's board of directors, gives advice on how genetic research is conducted.

Research on bad cancer genes in patients (including men, who also suffer from bad cancer, 10 men according to CCPC data in 2017) means a treating physician – usually an oncologist or a gynecologist.

This is done after the diagnosis, the diagnosis of the disease and the family history.

Since mutations in bad and ovarian cancer genes are hereditary and have a dominant effect (which means that if this mutation is a woman, there is a good chance that it will manifest itself ), that's what the family's story shows mostly – women have one or more blood relatives who have had bad cancer or ovarian cancer.

It's a little more complicated if the mutation "comes" from the paternal lineage, because men can carry this mutation in their genome (a set of genes), but they become relatively rare. Such a family heritage may not be so obvious.

At present, the badysis of bad cancer and ovarian genes is recommended for all women who have bad or ovarian cancer at an early age ( before the age of 50) and who have biliary disease – the cancer affects both bads.

It is sometimes advisable for healthy women to detect mutations in bad cancer genes, but these cases and needs should be evaluated by a doctor.

In Latvia, the generally simplest badysis – the BRCA1 gene (BReast CAncer) – looks for the most common mutations in Latvia. BRCA1 is a gene that codes (determines the production of proteins). The BRCA1 protein, which in turn acts as a tumor suppressor – prevents cells from multiplying and creating cancer.

We have two copies of this gene in the genome – one inherited from mom, the other – dad. For this protein to fail, both copies must be damaged.

Unfortunately, genes are "spoiled" in their lifetime – they produce different mutations that can affect gene function. If a person already has a mutation in a copy (such as a mutation inherited from a father or mother) that renders that copy of the gene invalid, it can be said that the person is already at half way to the cancer diagnosis because just doing something wrong with the other copy and the process can start. This, of course, is only one of the theories of the appearance of hereditary tumors;

Following a doctor's recommendation, the test process is as follows: The patient comes to the laboratory and is either sampled with a blood sample or with a cheekbone swab (specificity of each laboratory). The genomic DNA is extracted from this sample.

In addition, with the different methods of molecular biology, the entire genome is "cut" into fragments that can contain a mutation and badyzed – either the DNA sequence (DNA letter sequence) is read directly or is only one specific site is considered.

As a result of the tests, information is obtained as to whether or not the DNA of the desired mutation has been modified. If the mutation has been modified, the test report indicates which mutation has been found.

If, in the female genome test, what mutations are found, the doctor may recommend that you do so. cascade screening or testing of all blood relatives in search of their particular mutation found in their genome.

In this way, a mutation can be found in women who are not sick, but knowing that they are at risk in their genome, they are more likely to see a doctor and discover the disease at an early stage. Of course, there are various ethical issues that need to be addressed with the patient and her family.

However, the badysis of the family or the disease suggests that the cancer could be hereditary. In this case, it is also possible to carry out in-depth tests – complete tests of the BRCA1 and BRCA2 genes, or even more extensive gene panel badysis (BRCA1 and BRCA2, although the most frequent are not the same ones. only genes that can cause hereditary bad cancer).

These tests are currently not paid for by the National Health Service, but can be done by us at the GenEra Genetic Testing Laboratory, or by consulting the Hereditary Cancer Institute on the feasibility of these tests.

It is advisable to carry out in-depth badyzes only after consultation with the doctor, the result of this badysis is not so clear and it is necessary a doctor able to fully explain the results of the badysis.

For the ninth year, to inform women about the diagnosis and treatment of bad cancer in Latvia, the "Check Breasts for Living" campaign was organized. Highlighting the essential role of genes in the treatment of bad cancer, May 24, a press conference and training of volunteer messengers will be held at the hotel Roma. On June 7, in Riga Riga, with an update on bad health, various public events will mark the annual pink ribbon basketball match between Latvian and Turkish women's basketball games.