Name of the Procedure:

PALB2 (Partner and Localizer of BRCA2) Gene Analysis for Known Familial Variant

Summary

This procedure involves analyzing the PALB2 gene to identify a specific familial variant known to be associated with an increased risk of breast and pancreatic cancers. The test helps determine whether a person has inherited a genetic mutation that can lead to these cancers.

Purpose

The purpose of the PALB2 gene analysis is to identify whether a patient carries a known familial variant of the PALB2 gene that increases their risk for certain cancers. The information gained can guide prevention, screening, and treatment options for the patient and their family members.

Indications

• Family history of PALB2 gene mutations.
• Close family members diagnosed with breast or pancreatic cancer.
• Patients with a personal history of certain cancers and negative results for BRCA1/2 mutations.
• Individuals participating in genetic counseling and seeking further risk assessment.

Preparation

• No specific fasting or medication adjustments are generally required.
• The patient may need to provide a detailed family medical history.
• A pre-test genetic counseling session might be recommended or required.

Procedure Description

1. Sample Collection: A blood sample or saliva sample is collected from the patient.
2. DNA Extraction: DNA is extracted from the sample in a laboratory.
3. Gene Sequencing: The PALB2 gene is analyzed using advanced sequencing technology to detect the presence of the familial variant.
4. Result Interpretation: Geneticists interpret the results and prepare a report.

Duration

• Sample collection: 15-30 minutes
• Laboratory analysis: 2-4 weeks

Setting

• Sample collection can be performed in a hospital, outpatient clinic, or specialized laboratory.
• Genetic counseling sessions typically occur in a clinic or via telehealth.

Personnel

• Phlebotomist or nurse for sample collection.
• Geneticist for laboratory analysis and result interpretation.
• Genetic counselor for patient education and support.

Risks and Complications

• Minimal risk associated with blood sample collection such as mild bruising or discomfort.
• Psychological impact of test results, which can be managed with proper genetic counseling.

Benefits

• Provides information on cancer risk linked to PALB2 mutations.
• Helps in planning personalized prevention and screening programs.
• Informs family members about their potential cancer risk.

Recovery

• No physical recovery required.
• Emotional support may be beneficial if the test reveals a high cancer risk.

Alternatives

• General genetic testing for other cancer-related genes (e.g., BRCA1/2).
• Regular cancer screening programs without genetic testing, although less personalized.
• Preventive measures based on family history alone.

Patient Experience

• Minimal discomfort during sample collection.
• Waiting period for test results can cause anxiety; support from genetic counselors can be highly beneficial.
• Patients may feel empowered by having information on their genetic risk and available preventive options.