Name of the Procedure:

BRCA1 and BRCA2 Gene Analysis; Full Sequence Analysis and Full Duplication/Deletion Analysis (Detection of Large Gene Rearrangements)

Summary

BRCA1 and BRCA2 gene analysis is a genetic test that looks for mutations in specific genes associated with hereditary breast and ovarian cancer. This test involves examining the entire sequence of these genes and identifying any large rearrangements that may be present.

Purpose

This procedure helps identify genetic mutations that increase the risk of developing breast and ovarian cancers. By detecting these changes, individuals can understand their cancer risk better and take preventive actions or undergo more rigorous screenings.

Indications

• Family history of breast, ovarian, prostate, or pancreatic cancer.
• Personal history of breast cancer diagnosed before age 50.
• Personal history of ovarian cancer at any age.
• Male breast cancer.
• Known BRCA1 or BRCA2 mutation in the family.

Preparation

• Genetic counseling session to discuss the implications of the test.
• No specific preparation such as fasting is required.
• Informed consent must be obtained.

Procedure Description

1. DNA Sample Collection: A blood sample is usually collected from the patient.
2. Laboratory Analysis: The DNA is extracted from the blood cells and analyzed in a lab. The lab sequences the BRCA1 and BRCA2 genes to detect any mutations.
3. Duplication/Deletion Analysis: Additional tests are performed to identify any large deletions or duplications in the genes.
4. Result Interpretation: A geneticist interprets the results and provides a report indicating any mutations found.

Duration

The time for the blood draw is typically around 15 minutes. The analysis process in the lab can take several weeks, depending on the specific tests being performed.

Setting

The blood sample is usually collected in a hospital, outpatient clinic, or specialized genetic testing center.

Personnel

• Phlebotomists or nurses for blood sample collection.
• Geneticists and laboratory technicians for the analysis.
• Genetic counselors to discuss the results with the patient.

Risks and Complications

• The blood draw procedure is minimally risky, involving common risks such as slight bruising or infection at the puncture site.
• Psychological impact of results, potentially causing anxiety or distress.

Benefits

• Early identification of increased cancer risk.
• Ability to take preventive measures or undergo more rigorous screenings.
• Informed decision-making about personal and family health.

Recovery

• No physical recovery needed from the blood draw.
• Genetic counseling may be recommended to help patients understand and cope with the results.

Alternatives

• Taking a family history and considering less comprehensive genetic tests.
• Regular cancer screenings without genetic testing.
• Preventive surgeries based on family history alone, without confirmation of genetic mutations.

Patient Experience

• The blood draw is typically straightforward with minimal discomfort.
• Waiting for results can be stressful due to the significant implications of the test.
• Genetic counseling sessions provide support and detailed explanations to help manage any concerns.