Name of the Procedure:

BRCA2 Gene Analysis (BRCA2, DNA repair associated) for Known Familial Variant
Common Names: BRCA2 Testing, Hereditary Breast and Ovarian Cancer Gene Testing

Summary

BRCA2 gene analysis involves testing a patient's DNA to identify mutations in the BRCA2 gene, which is associated with an increased risk of hereditary breast and ovarian cancer. When a known familial variant is present, this test specifically looks for that existing mutation.

Purpose

This procedure is used to detect specific mutations in the BRCA2 gene that may significantly increase an individual's risk of developing breast and ovarian cancers. Identifying these variants helps in making informed decisions about cancer prevention, surveillance, and treatment.

Indications

• Family history of breast or ovarian cancer.
• Known BRCA2 mutation in a close family member.
• Individuals diagnosed with breast or ovarian cancer at a young age.
• Multiple cases of related cancers in the family.

Preparation

• No special preparation like fasting is needed.
• A detailed family history and genetic counseling session are typically conducted beforehand.

Procedure Description

1. A sample of blood or saliva is collected from the patient.
2. The sample is sent to a laboratory specialized in genetic testing.
3. DNA is extracted and analyzed specifically for the known BRCA2 variant.
4. Results are reviewed and explained to the patient, often by a genetic counselor or healthcare provider.

Duration

The sample collection takes about 10-15 minutes. Lab analysis may take several weeks to complete.

Setting

• Outpatient clinic
• Genetic testing laboratory

Personnel

• Phlebotomist or nurse for sample collection
• Genetic counselor and/or physician for results interpretation

Risks and Complications

• Minimal risk associated with sample collection, such as minor bruising at the blood draw site.
• Emotional or psychological impact of test results.

Benefits

• Identification of increased cancer risk enables proactive management.
• Provides information for family members about their potential cancer risk.
• Helps guide preventive measures such as increased surveillance or prophylactic surgeries.

Recovery

• No physical recovery needed.
• Follow-up genetic counseling recommended to discuss results and implications.

Alternatives

• Testing for other related genetic mutations.
• Regular cancer screening without genetic testing.
• Options like mammography, MRI, or ovarian cancer screening for high-risk individuals.

Patient Experience

• Sample collection is quick and minimally invasive.
• Waiting for results can be anxiety-inducing.
• Genetic counseling helps in understanding the results and planning the next steps.