Name of the Procedure:

BRCA1 (BRCA1, DNA repair associated) and BRCA2 (BRCA2, DNA repair associated) Gene Analysis; Full Sequence Analysis

Summary

BRCA1 and BRCA2 gene analysis is a genetic test used to identify mutations in the BRCA1 and BRCA2 genes, which are associated with an increased risk of developing hereditary breast and ovarian cancer. This test examines the entire sequence of these genes to detect any harmful changes or mutations.

Purpose

This procedure addresses the genetic predisposition to hereditary breast and ovarian cancer. The goal is to identify individuals who carry harmful mutations in the BRCA1 or BRCA2 genes. Identifying these mutations can inform patients about their cancer risk and guide preventive measures or treatment options.

Indications

The procedure is indicated for individuals with a family history of breast, ovarian, prostate, or pancreatic cancer. It is especially recommended for those with:

• Multiple family members diagnosed with breast or ovarian cancer.
• Family history of male breast cancer.
• Early-onset breast cancer (diagnosed before age 50).
• Ashkenazi Jewish ancestry, as they have a higher prevalence of BRCA mutations.

Preparation

• No specific fasting or medication adjustments are required.
• A detailed family history and genetic counseling are often recommended prior to testing.
• Informed consent is obtained after discussing the implications of the test results.

Procedure Description

1. Sample Collection: A blood sample is usually collected from the patient.
2. Laboratory Analysis: The DNA is extracted from the blood cells and analyzed for the full sequence of the BRCA1 and BRCA2 genes.
3. Sequence Analysis: Specialized equipment such as next-generation sequencing (NGS) platforms perform the analysis to detect any mutations.

No anesthesia or sedation is required for this non-invasive procedure.

Duration

The blood sample collection takes about 10-15 minutes. The full genetic analysis typically takes several weeks to complete due to the complexity of sequencing and interpreting the results.

Setting

The blood sample is collected in an outpatient clinic or hospital. The genetic analysis is conducted in a specialized laboratory.

Personnel

• Phlebotomist or nurse for blood sample collection.
• Geneticist or molecular biologist for DNA analysis.
• Genetic counselor to discuss test results and implications.

Risks and Complications

• There are minimal risks associated with blood sample collection, such as slight bruising or discomfort at the puncture site.
• The psychological impact of the test results may cause anxiety or stress, and it is managed through genetic counseling.

Benefits

• Identification of BRCA1 or BRCA2 mutations allows for personalized cancer risk management.
• Provides information for preventive measures such as increased surveillance, lifestyle changes, or prophylactic surgeries.
• Aids in decision-making regarding treatment options for patients already diagnosed with cancer.

Recovery

• No physical recovery is needed as the procedure is non-invasive.
• Psychological support might be necessary depending on the test results.

Alternatives

• Other genetic tests may screen for additional hereditary cancer syndromes but may not provide a full sequence analysis.
• Imaging and regular medical check-ups for early cancer detection serve as adjunct measures but do not replace genetic insight.

Patient Experience

• During the blood draw, the patient might feel a brief needle prick.
• Anxiety related to awaiting results is common, but genetic counseling can help manage this.
• Understanding the personal and familial implications of the test results can be empowering but also necessitates emotional support.