Name of the Procedure:

TP53 Gene Analysis (Tumor Protein 53), Targeted Sequence Analysis Common Terms: TP53 Sequencing, Li-Fraumeni Syndrome Gene Test

Summary

TP53 gene analysis involves examining specific sequences of the TP53 gene to identify mutations. These mutations can indicate a susceptibility to certain cancers, particularly Li-Fraumeni Syndrome.

Purpose

This procedure addresses genetic predispositions to various cancers, including breast cancer, sarcomas, brain tumors, and adrenocortical carcinoma. The goal is to detect mutations in the TP53 gene to assess cancer risk and guide preventive or therapeutic measures.

Indications

• Family history of Li-Fraumeni Syndrome
• Multiple primary cancers at a young age
• Early-onset breast cancer
• Rare cancers such as sarcomas or adrenocortical carcinoma
• Patients with a known family mutation in the TP53 gene

Preparation

• No fasting or medication adjustments required
• Inform your doctor of any current medications or health conditions
• Blood draw or saliva sample may be needed

Procedure Description

1. Blood or saliva sample is collected from the patient.
2. The sample is sent to a laboratory specialized in genetic testing.
3. DNA is extracted from the sample.
4. The specific sequences of the TP53 gene are amplified and analyzed using advanced sequencing technology.
5. Results are interpreted by a geneticist and shared with the healthcare provider.

Tools, equipment, or technology: Sequencing machines, PCR machines, and other molecular biology tools.

Duration

The sample collection takes about 10-15 minutes, while the analysis can take several weeks.

Setting

The sample collection is typically performed at a clinic or hospital. The analysis takes place in a specialized genetics laboratory.

Personnel

• Genetic counselor or medical geneticist
• Lab technician or phlebotomist for sample collection
• Geneticist for analysis and interpretation

Risks and Complications

• Minimal risks involved with blood draw (e.g., slight pain, bruising)
• Psychological impact of learning genetic risk

Benefits

• Identification of cancer predisposition
• Information to inform personalized cancer surveillance and prevention strategies
• Potential for early detection of cancers

Recovery

• No physical recovery needed from sample collection
• Psychological support may be beneficial depending on the results

Alternatives

• Whole genome sequencing
• BRCA gene testing for breast and ovarian cancer
• CT/MRI scans for surveillance

Pros and cons of alternatives: Whole genome sequencing provides broader information but is more expensive and complex. BRCA testing is more specific to breast and ovarian cancer but doesn't cover the wide range of cancers associated with TP53.

Patient Experience

During sample collection, patients might feel a brief pinch if a blood draw is involved. Waiting for results can cause anxiety; however, genetic counselors provide support throughout the process.