Name of the Procedure:

BRCA1 (BRCA1, DNA repair associated) gene analysis; known familial variant. Commonly referred to as: BRCA1 Genetic Testing, BRCA1 Mutation Screening

Summary

BRCA1 gene analysis is a genetic test used to identify specific inherited mutations in the BRCA1 gene that are associated with a higher risk of breast and ovarian cancer. This test focuses on detecting a known familial variant previously identified in a relative.

Purpose

BRCA1 gene analysis is performed to determine if an individual carries a familial BRCA1 mutation that increases their risk of developing hereditary breast and ovarian cancer. The goal is to inform individuals of their genetic risk so they can make informed decisions about their healthcare, including preventive measures and screening strategies.

Indications

• Family history of breast or ovarian cancer with a known BRCA1 mutation.
• Individuals diagnosed with breast or ovarian cancer at a young age, or with a family history suggesting a genetic predisposition.
• Patients who fit the criteria for hereditary cancer syndromes.

Preparation

• Pre-Procedure Instructions: No fasting or specific medication adjustments are required. However, it is recommended to provide detailed family medical history.
• Diagnostic Tests/Assessments: Genetic counseling is often recommended prior to testing to discuss the implications and potential outcomes of the test.

Procedure Description

1. Sample Collection: Blood sample is usually collected from the patient. Alternatively, a saliva sample may be used.
2. DNA Extraction: DNA is extracted from the collected sample.
3. Gene Analysis: Laboratory techniques such as PCR (polymerase chain reaction) and sequencing are used to analyze the BRCA1 gene for the specific familial mutation.
4. Interpretation: Results are interpreted by a genetic specialist to determine if the known familial variant is present.

Duration

The sampling process itself takes about 10-15 minutes. The complete analysis and results can take several weeks.

Setting

The procedure is typically performed in an outpatient clinic, hospital lab, or specialized genetic testing center.

Personnel

• Phlebotomist or healthcare professional for sample collection.
• Laboratory personnel for DNA extraction and analysis.
• Genetic counselor or medical geneticist for result interpretation and patient consultation.

Risks and Complications

• Common Risks: Minimal, as the procedure involves only sample collection (e.g., slight bruising at the blood draw site).
• Rare Complications: Psychological distress due to the implications of test results.

Benefits

• Identification of increased cancer risk, allowing for proactive healthcare decisions.
• Informative for family members who may also carry the mutation.
• Potential for early intervention and tailored screening programs.

Recovery

• Post-Procedure Care and Instructions: No specific care needed after sample collection.
• Recovery Time: Immediate, with no restrictions.
• Follow-Up: Results will be reviewed with a healthcare provider or genetic counselor, who will discuss the next steps and any necessary follow-up appointments.

Alternatives

• Other Options: Comprehensive genetic testing for multiple genes associated with hereditary cancers.
• Pros and Cons: More extensive genetic testing may identify other risk genes but at a higher cost and with more complex results.

Patient Experience

• During the Procedure: Minimal discomfort during blood draw or saliva collection.
• After the Procedure: No pain or significant discomfort. Emotional responses may vary upon receiving results.
• Pain Management and Comfort Measures: Sample collection is usually painless, but any anxiety related to results can be managed with support from healthcare professionals.