BRCA1/BRCA2 Genes

BRCA1/BRCA2 Genes

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

BRCA1 and BRCA2 are human genes that produce tumor suppressor proteins. These proteins play a crucial role in repairing damaged DNA and are involved in maintaining the stability of the cell's genetic material. Mutations in these genes can lead to an increased risk of developing certain types of cancer, particularly breast and ovarian cancer.

Structure and Functions of BRCA1/BRCA2 Genes

The BRCA1 gene is located on chromosome 17, and the BRCA2 gene is on chromosome 13. These genes encode proteins that are involved in various cellular processes, including DNA repair, cell cycle regulation, and transcriptional regulation.

The BRCA1 protein is composed of several functional domains that interact with other proteins involved in DNA repair pathways. Similarly, the BRCA2 protein forms complexes with other proteins to facilitate DNA repair mechanisms, particularly in the process of homologous recombination.

Table 1: Characteristics of BRCA1/BRCA2 Genes

Mutations in the BRCA1 and BRCA2 genes can disrupt the normal functions of these proteins, leading to an accumulation of genetic errors and an increased risk of developing cancer. Individuals with inherited mutations in these genes have a significantly higher risk of developing breast, ovarian, and other types of cancer compared to the general population.

Role of BRCA1/BRCA2 Genes

The BRCA1 and BRCA2 genes play a crucial role in DNA repair and tumor suppression. Mutations in these genes are associated with an increased risk of developing certain types of cancer, particularly breast and ovarian cancers. Understanding the role of these genes is important for cancer risk assessment, prevention, and treatment strategies.

Indications for BRCA1/BRCA2 Gene Testing

BRCA1/BRCA2 gene testing is recommended in the following situations:

• Family history of breast, ovarian, or other BRCA-related cancers: Individuals with a strong family history of these cancers may be at an increased risk and should consider genetic testing.
• Early-onset breast cancer: Women diagnosed with breast cancer at an early age, typically before age 50, may benefit from BRCA1/BRCA2 testing.
• Multiple primary breast cancers: Women who have been diagnosed with breast cancer in both breasts, either at the same time or at different times, may be candidates for genetic testing.
• Male breast cancer: Men diagnosed with breast cancer have a higher likelihood of carrying a BRCA1/BRCA2 mutation and should be evaluated for genetic testing.
• Ashkenazi Jewish ancestry: Individuals with Ashkenazi Jewish ancestry have a higher prevalence of certain BRCA1/BRCA2 mutations, increasing their risk of developing breast and ovarian cancers.

Preparation for the Procedure

The preparation for the BRCA1/BRCA2 gene analysis is relatively simple and does not require any special measures. However, there are a few recommendations to consider:

• Fasting: Most often, the blood sample for BRCA1/BRCA2 gene analysis can be collected without fasting. However, if the test is part of a comprehensive blood workup, an 8-12 hour fast may be required.
• Avoiding physical exertion: It is recommended to avoid strenuous physical activity on the day before the test, as it may affect the results.
• Abstaining from alcohol and smoking: Refrain from consuming alcohol and smoking for at least 24 hours before the test, as these may influence the results.
• Maintaining hydration: Proper hydration is important to facilitate the blood draw. Dehydration can make it more challenging to obtain a sufficient blood sample.
• Informing about medications: Inform your healthcare provider about any medications or supplements you are taking, as some may affect the test results.

Procedure

The blood sample for the BRCA1/BRCA2 gene analysis is typically drawn from a vein in the arm, usually at the inner elbow area. The procedure takes a few minutes and is performed by a trained medical professional. Some mild bleeding or bruising at the puncture site may occur, but it usually resolves within a few days.

About the BRCA1/BRCA2 Gene Analysis

The BRCA1 and BRCA2 gene analysis is a specialized test that examines the genetic code within these genes for any mutations or alterations. This analysis is typically performed on a blood or saliva sample and can help assess an individual's risk for developing certain types of cancer, particularly breast and ovarian cancers.

The BRCA1 and BRCA2 genes are tumor suppressor genes that play a crucial role in repairing damaged DNA and regulating cell growth. Mutations in these genes can increase the risk of developing certain cancers, as the altered genes may be unable to perform their intended functions effectively.

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.