BRCA1/BRCA2 Genes

We remind you that independent interpretation of the results is unacceptable, the information provided below is for reference purposes only.

Genetic testing for the detection of mutations in the BRCA1 and BRCA2 genes allows assessment of hereditary risk for breast and ovarian cancer. Alterations in these genes are associated with an increased risk of developing these types of cancer and can be inherited.

The test is used to identify individuals with genetic predisposition and supports the development of personalized strategies for monitoring, prevention, and early diagnosis.

Indications

• family history of breast and/or ovarian cancer;
• cases of early-onset breast or ovarian cancer in the family;
• presence of BRCA1/BRCA2 mutations in biological relatives;
• genetic risk assessment prior to preventive monitoring planning;
• recommendation from a geneticist, oncologist, or gynecologist.

Method

Molecular genetic analysis (sequencing/mutation detection) of the BRCA1 and BRCA2 genes:

• BRCA1 – tumor suppressor gene involved in DNA repair and maintenance of genomic integrity; pathogenic mutations are associated with increased risk of breast and ovarian cancer;
• BRCA2 – gene with a similar role in DNA repair and genomic stability, with pathogenic variants associated with hereditary predisposition to breast and ovarian cancer.

Procedure

The test is performed using a venous blood sample collected by venipuncture. The sample is processed in the laboratory for genetic analysis and detection of possible mutations.
 

Sources:

https://my.clevelandclinic.org/health/diagnostics/22728-brca-testing
https://blog.dana-farber.org/insight/2021/10/brca-testing-what-you-need-to-know/
https://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet
https://medlineplus.gov/lab-tests/brca-test/
https://www.healthline.com/health/brca-gene-testing
https://www.breastcancer.org/genetic-testing/getting-results
https://www.mayoclinic.org/tests-procedures/brca-gene-test/about/pac-20384815

IMPORTANT!

It is crucial to remember that the information provided in this section is not intended for self-diagnosis or self-treatment purposes. If you experience any symptoms or an exacerbation of an existing condition, it is essential to consult a healthcare professional for proper diagnosis and treatment. Only a qualified specialist can accurately diagnose and determine the appropriate course of treatment. To ensure the most accurate and consistent evaluation of test results, it is recommended to have the tests performed at the same laboratory. This is because different laboratories may use varying methods and units of measurement for similar tests.