Name of the Procedure:

BRCA1 (BRCA1, DNA repair associated) and BRCA2 (BRCA2, DNA repair associated) Gene Analysis; 185delAG, 5385insC, 6174delT Variants

Summary

The BRCA1 and BRCA2 gene analysis specifically targets three variants: 185delAG, 5385insC, and 6174delT. These genetic tests help identify mutations associated with a higher risk of hereditary breast and ovarian cancer.

Purpose

This procedure is used to detect specific mutations in the BRCA1 and BRCA2 genes, which are linked to an increased risk of breast and ovarian cancer. The goal is to identify individuals who may benefit from enhanced surveillance, preventive measures, or specific treatments to reduce cancer risk.

Indications

Patients with a personal or family history of breast, ovarian, fallopian tube, or primary peritoneal cancer are candidates for this test. It is especially suitable for individuals of Ashkenazi Jewish descent, who have a higher prevalence of these specific mutations.

Preparation

No special preparations such as fasting or medication adjustments are typically necessary. Patients may need to provide a detailed family medical history and undergo genetic counseling before the test.

Procedure Description

1. Sample Collection: A blood sample or a saliva sample is collected from the patient.
2. DNA Extraction: DNA is extracted from the collected sample.
3. Analysis: The DNA is analyzed for the presence of the 185delAG, 5385insC, and 6174delT mutations using genetic sequencing techniques.
4. Reporting: Results are interpreted by a geneticist and provided to the healthcare provider.

Duration

The actual sample collection takes only a few minutes. The analysis and reporting process can take several weeks.

Setting

The sample collection can be performed at a hospital, outpatient clinic, or a specialized diagnostic lab. The analysis is conducted at a specialized genetic laboratory.

Personnel

• Phlebotomist or nurse for sample collection
• Geneticist or laboratory technician for DNA analysis
• Genetic counselor for pre- and post-test counseling

Risks and Complications

The sample collection is generally safe with minimal risks, such as slight bruising at the blood draw site. Genetic testing itself carries no physical risks, but there may be emotional or psychological impacts from the results.

Benefits

Early detection of BRCA mutations can lead to personalized cancer prevention strategies, such as increased surveillance, prophylactic surgeries, or chemoprevention. These benefits can be realized as soon as the test results are available.

Recovery

There is no physical recovery required from the test itself. Post-test, patients will receive guidance based on their results.

Alternatives

• Comprehensive BRCA gene sequencing to detect a broader range of mutations
• Panel testing for multiple genes associated with hereditary cancers Pros and cons vary; comprehensive sequencing may detect additional variants but may also be more expensive.

Patient Experience

During the sample collection, patients may feel a brief needle prick for a blood draw or may simply provide a saliva sample. Afterward, genetic counseling can help manage any anxiety or concerns about the test results. Pain is minimal and comfort measures are not typically necessary.