Name of the Procedure:

BRCA1 (BRCA1, DNA repair associated) and BRCA2 (BRCA2, DNA repair associated) gene analysis; full duplication/deletion analysis (i.e., detection of large gene rearrangements)

Summary

This procedure involves the analysis of the BRCA1 and BRCA2 genes to detect large gene rearrangements. These rearrangements may increase the risk of hereditary breast and ovarian cancer. The analysis is conducted using specialized techniques that can identify duplications or deletions within these genes.

Purpose

Medical Condition:

Hereditary breast and ovarian cancer.

Goals:

To identify mutations in the BRCA1 and BRCA2 genes that could significantly increase a person's risk of developing breast or ovarian cancer. Early detection allows for better-informed decisions regarding preventive or therapeutic measures.

Indications

Symptoms and Conditions:

• Family history of breast or ovarian cancer.
• Individuals already diagnosed with breast or ovarian cancer, especially at a young age.
• Family members of individuals with known BRCA1 or BRCA2 mutations.

Patient Criteria:

• Adults over the age of 18.
• Individuals with a known family history of BRCA1 or BRCA2 mutations.

Preparation

Pre-procedure Instructions:

• No special preparation such as fasting is generally required.
• Provide a detailed family medical history during the pre-test consultation.
• Possibly undergo genetic counseling to understand the implications of the test.

Diagnostics Tests:

• In some cases, a blood sample or saliva sample might be collected for preliminary testing.

Procedure Description

1. A sample of blood or saliva is collected from the patient.
2. The DNA is extracted from the collected sample in a laboratory.
3. Advanced techniques, such as MLPA (Multiplex Ligation-dependent Probe Amplification) or NGS (Next-Generation Sequencing), are used to detect large duplications or deletions in the BRCA1 and BRCA2 genes.
4. Results are analyzed and interpreted by a geneticist.

Tools and Equipment:

• Blood or saliva collection kits.
• Laboratory equipment for DNA extraction and analysis.

Anesthesia/Sedation:

• Not applicable as the procedure is non-invasive and involves only sample collection.

Duration

The sample collection takes a few minutes, while the analysis may take several weeks to complete, depending on the laboratory's workload and the complexity of the analysis.

Setting

• The sample collection is typically done in a hospital, outpatient clinic, or a genetic testing center.
• The genetic analysis is performed in a specialized laboratory.

Personnel

• Nurses or phlebotomists for sample collection.
• Geneticists and lab technicians for conducting and analyzing the test.

Risks and Complications

Common Risks:

• Minor discomfort or bruising at the site of blood sample collection.

Rare Risks:

• Incorrect test results due to sample contamination or technical errors. However, these are generally mitigated by quality control measures in accredited laboratories.

  Benefits

• Provides critical information about genetic risks for breast and ovarian cancer.
• Enables proactive measures such as increased surveillance, preventive surgeries, or lifestyle adjustments.
• Results are typically available within a few weeks.

Recovery

• Since the procedure is non-invasive, no significant recovery time is required.
• Patients can resume regular activities immediately after sample collection.
• Follow-up appointments may include genetic counseling to discuss results and next steps.

Alternatives

• Single nucleotide polymorphism (SNP) testing for common BRCA mutations (less comprehensive).
• Chromosomal microarray analysis.
• Family history-based risk assessment without genetic testing (less precise).

Pros and Cons:

• Full gene analysis provides more comprehensive risk information compared to targeted mutation tests.
• Family history alone may miss individuals without known family mutations.

Patient Experience

During the Procedure:

• Mild discomfort or anxiety during blood sample collection.
• Saliva sample collection is generally painless and non-invasive.

After the Procedure:

• Patients may feel anxious awaiting results.
• Genetic counseling can help manage emotional responses and plan further actions based on test outcomes. Pain management and comfort measures are generally unnecessary as the procedure itself is minimally invasive.