22 Jan BRCA test
The BRCA test is usually PCR, more precisely real time PCR or NGS analysis that focuses on the detection of mutations in the BRCA 1 and BRCA 2 genes.
What does BRCA mean?
BRCA stands for Breast Cancer gene. The primary function of the proteins for which these genes carry information is actually protection against the formation of cancer, not only of the breast. They are also called tumor suppressor genes, which further testifies to their role in the body.
Some mutations on these genes can lead to disturbances in the synthesis or structure of the proteins that carry their function. Smaller amounts of these proteins, or less efficiency, can lead to uncontrolled cell growth. As a result, cells affected by the mutation can develop into cancer.. Those mutations are also the focus of the BRCA test analysis.
How does the disorder occur?
Each of us carries two copies of these genes, one from our mother and one from our father. In the event that mutated versions of these genes are inherited from both mother and father, the percentage of fetal survival turns out to be very low.
When one mutated and one functional (normal) copy is inherited, the latter will ensure the proper functioning of the BRCA gene and the protein it codes for. The problem arises when such a mutation occurs in one of our cells.
Cells affected by the mutation will not have the correct source of information for the synthesis of tumor suppressor proteins, and the chance that one of those cells will become cancerous will increase.
It is estimated that about 1% of the world’s population carries a mutation in the BRCA genes.
What is the clinical significance of these mutations?
About 3% of breast cancer and about 10% of ovarian cancer globally are a direct consequence of inherited mutations.
More precisely, about 13% of the total female population will develop breast cancer. In the population of women with a mutation on the BRCA 1 gene, that percentage rises to 55% – 72%, and when a mutation on the BRCA 2 gene is present, it is 45% – 69%.
Also, the chance of developing collateral cancer in the period up to 10 years after the appearance of the first, cancer in the second breast, increases to 50% depending on the mutated gene.
As for ovarian cancer, about 1.2% of the total female population will face it. In the case of the female population with a BRCA 2 mutation, that percentage rises to 11% – 17%, and in the case of a BRCA 1 mutation, even to 39% – 44%.
In addition to these two, these mutations are currently associated with prostate cancer in men, pancreatic cancer in both sexes, and peritoneal cancer.
What does the BRCA test tell us?
When everything mentioned is taken into account, it can be concluded that for an adequate diagnosis, or to predict the occurrence of cancer, it is necessary to have the information provided by the BRCA test.
In the Citilab laboratory, you can do a BRCA test that is based on real time PCR technology and detects as many as 7 mutations on the BRCA 1 gene and one BRCA 2.
We are one of the few who are able to perform these complex analyzes in our laboratory in Belgrade, which ensures fast results with great accuracy.
Mutations 185delAG, 4153delA, 5382insC, 3819delGTAAA, 3875delGTCT, 300T>G (Cys61Gly), 2080delA are detected on BRCA 1 gene, while 6174delT mutation is detected on BRCA 2.
The BRCA test is performed from a peripheral blood sample and the results are available in two to three days.
Schedule BRCA analysis
For any additional information or consultation, you can contact us by phone at 011/ 777 3 777, via email at info@citilab.rs and the contact form.
You can also find us on all social networks or come to our laboratory at Vračar, Dubljanska 41.
