Name of the Procedure:

BRCA1, BRCA2 Gene Analysis for Uncommon Duplication/Deletion Variants
Common Name(s): BRCA1 and BRCA2 Genetic Testing

Summary

BRCA1 and BRCA2 gene analysis tests for uncommon duplication or deletion variants in these genes. These tests help identify genetic mutations that may increase an individual's risk for hereditary breast and ovarian cancers.

Purpose

The procedure addresses hereditary breast and ovarian cancer risk assessment. The goal is to identify individuals carrying BRCA1 or BRCA2 genetic mutations to inform them about their cancer risks and guide them in taking preventative measures or early interventions.

Indications

• Family history of breast cancer, ovarian cancer, or other related cancers.
• Personal history of breast cancer diagnosed before age 50.
• Multiple family members diagnosed with breast, ovarian, or related cancers.
• Known BRCA1 or BRCA2 mutations in the family.

Preparation

• No specific preparation like fasting is required.
• Patients might be advised to provide a detailed family medical history.
• Genetic counseling is often recommended before and after the test to understand the implications of the results.

Procedure Description

1. A blood or saliva sample is collected from the patient.
2. The sample is sent to a specialized laboratory for DNA analysis.
3. Advanced techniques are used to detect uncommon duplications or deletions in the BRCA1 and BRCA2 genes.
4. Results are reviewed by a geneticist and often discussed with the patient by a genetic counselor.

Duration

The sample collection takes about 10-20 minutes. Lab analysis may take several weeks to complete, depending on the complexity of the testing.

Setting

The sample collection can be performed in a doctor's office, outpatient clinic, or hospital setting.

Personnel

• Phlebotomist or nurse for sample collection.
• Geneticist and laboratory technicians for sample analysis.
• Genetic counselor to explain the test results and implications.

Risks and Complications

• Minimal risks associated with blood draw, such as slight bruising or infection at the puncture site.
• Psychological impact due to learning about potential cancer risks which can be managed through counseling.

Benefits

• Identification of increased risk for breast and ovarian cancer.
• Allows for personalized surveillance and preventive strategies.
• Informs family members who might also be at risk.

Recovery

• No physical recovery needed as the test involves only sample collection.
• Psychological and emotional support might be necessary post-results.

Alternatives

• Standard BRCA1 and BRCA2 sequencing tests for common mutations.
• Comprehensive genetic testing panels for multiple cancer-related genes.
• Pros: Detailed risk assessment; Cons: Might be more expensive and take longer to get results.

Patient Experience

• Sample collection is usually quick and involves mild discomfort.
• Patients might experience anxiety before and after receiving the test results.
• Genetic counseling is essential for managing emotional responses and understanding the results.