Name of the Procedure:

BRCA1, BRCA2 (Breast Cancer 1 and 2) Gene Analysis; full sequence analysis and common duplication/deletion variants in BRCA1 (e.g., exon 13 del 3.835kb, exon 13 dup 6kb, exon 14-20 del 26kb, exon 22 del 510bp)

Summary

BRCA1 and BRCA2 gene analysis is a genetic test that identifies mutations in these genes, which are linked to a higher risk of developing hereditary breast and ovarian cancer. The test involves sequencing the entire BRCA1 and BRCA2 genes and detecting common large duplications or deletions in the BRCA1 gene.

Purpose

The procedure aims to identify mutations in the BRCA1 and BRCA2 genes that significantly increase the risk of breast and ovarian cancers. By detecting these mutations, patients can undertake preventive measures, early screenings, or consider risk-reducing strategies.

Indications

• Family history of breast or ovarian cancer
• Personal history of breast cancer before the age of 50
• Multiple family members diagnosed with breast cancer
• Family history of male breast cancer
• Any relative with a known BRCA1 or BRCA2 mutation

Preparation

• No specific preparation is generally needed.
• A genetic counseling session is recommended to discuss the potential outcomes and implications of the test.
• A blood or saliva sample is collected for analysis.

Procedure Description

1. Sample Collection: A blood sample or saliva sample is collected from the patient.
2. DNA Extraction: DNA is extracted from the collected sample.
3. Gene Sequencing: The entire BRCA1 and BRCA2 genes are sequenced to identify any mutations.
4. Duplication/Deletion Analysis: Additional specific tests are conducted to identify common large deletions or duplications in the BRCA1 gene.
5. Interpretation: Genetic specialists analyze the sequence data to identify mutations.

Duration

The procedure for collecting a sample takes about 10-15 minutes. The analysis and interpretation of the results can take several weeks, typically 2 to 4 weeks.

Setting

Sample collection usually occurs in a hospital, outpatient clinic, or specialized genetic testing center.

Personnel

• Genetic counselor
• Medical laboratory technician or phlebotomist for sample collection
• Geneticist for data analysis and interpretation

Risks and Complications

• Physical risks are minimal, typically limited to slight discomfort during blood draw.
• The main risk involves psychological impact due to positive test results, which might cause anxiety or stress.
• Misinterpretation of results can lead to unnecessary interventions.

Benefits

• Identification of BRCA mutations allows for personalized management of cancer risk.
• Enables informed decisions about preventive measures and early detection strategies.
• Can inform family members about their own risk.

Recovery

• No physical recovery needed post-sample collection.
• Emotional and psychological support may be needed to discuss test results and next steps.

Alternatives

• Other genetic tests to identify mutations in different genes involved in cancer risk.
• Regular screening and monitoring without genetic testing.
• Proactive preventive measures based on family history alone.

Patient Experience

• Patients typically feel minimal discomfort during the sample collection process.
• Waiting for results can be emotionally challenging.
• Post-results consultation for interpretation and advice on next steps is crucial for managing anxiety and making informed decisions.