Name of the Procedure:

BRCA1 (BRCA1, DNA repair associated) Gene Analysis; Full Sequence Analysis

Summary

BRCA1 gene analysis is a genetic test that examines the full sequence of the BRCA1 gene. This test identifies mutations that may increase the risk of hereditary breast and ovarian cancer.

Purpose

BRCA1 gene analysis is used to determine if an individual carries mutations in the BRCA1 gene that elevate their risk for developing breast and ovarian cancers. Identifying these mutations can help with early detection, preventive measures, and personalized treatment plans.

Indications

• Family history of breast or ovarian cancer.
• Personal history of breast or ovarian cancer, especially at a young age.
• Individuals from populations with higher prevalence of BRCA1 mutations (e.g., Ashkenazi Jewish descent).
• Individuals with a known family member who has a BRCA1 mutation.

Preparation

• No fasting required.
• Review of personal and family medical history.
• Pre-test genetic counseling to discuss potential outcomes and implications.
• Consent may be required.

Procedure Description

1. A sample of blood is collected from the patient.
2. DNA is extracted from the blood sample.
3. The BRCA1 gene is sequenced to identify any mutations.
4. Results are analyzed and interpreted by a geneticist.

Duration

• Blood sample collection: ~15 minutes.
• DNA sequencing and analysis: 2-4 weeks for results.

Setting

• Blood sample collection: outpatient clinic, hospital, or doctor’s office.
• DNA sequencing: specialized laboratory.

Personnel

• Phlebotomist (for blood sample collection).
• Laboratory technicians and geneticists (for DNA sequencing and analysis).
• Genetic counselor (for pre- and post-test counseling).

Risks and Complications

• Rare risks include minor bruising or infection at the blood draw site.
• Psychological impact of test results.

Benefits

• Identification of BRCA1 mutations can lead to informed decisions about cancer prevention, monitoring, and treatment.
• Early detection and intervention can significantly reduce cancer risk.

Recovery

• No significant recovery period required.
• Follow-up appointment with a genetic counselor to discuss results and next steps.

Alternatives

• BRCA2 gene analysis for more comprehensive genetic screening.
• Multi-gene panel testing to screen for additional cancer-related genes.
• Regular cancer screening and risk-reduction strategies without genetic testing.

Patient Experience

• Minimal discomfort during blood draw.
• Emotional support and counseling provided to manage anxiety related to test results.
• Test results discussed in follow-up appointments to devise an appropriate action plan based on findings.