Name of the Procedure:

PALB2 (Partner and Localizer of BRCA2) Gene Analysis; Full Gene Sequence

Summary

This procedure involves analyzing the entire sequence of the PALB2 gene to identify mutations that may increase the risk of breast and pancreatic cancers. A sample of the patient's blood or saliva is used to isolate DNA, which is then examined in a laboratory.

Purpose

The procedure aims to identify genetic mutations in the PALB2 gene, which can help predict an individual's risk of developing breast or pancreatic cancer. This information is crucial for making informed decisions about cancer screening, prevention, and treatment strategies.

Indications

• Family history of breast or pancreatic cancer.
• Early-onset breast cancer (diagnosed before the age of 50).
• Multiple family members with breast or pancreatic cancer.
• Known familial PALB2 mutations.

Preparation

• No special preparation is usually required.
• Patients should provide a detailed family medical history.
• May need to give a blood or saliva sample.

Procedure Description

1. A blood sample is drawn from the patient or a saliva sample is collected.
2. The sample is sent to a laboratory where DNA is extracted.
3. The PALB2 gene is sequenced to identify any genetic mutations.
4. Results are analyzed and interpreted by a geneticist.
5. The patient receives a report outlining any notable findings.

Duration

• The sample collection takes about 5-10 minutes.
• Genetic analysis typically takes a few weeks.

Setting

• The procedure can be performed in a hospital, outpatient clinic, or specialized genetic testing laboratory.

Personnel

• Nurse or phlebotomist for sample collection.
• Laboratory technicians and geneticists for analysis.

Risks and Complications

• Rare risk of infection or bruising at the blood draw site.
• Emotional impact of knowing genetic risk.

Benefits

• Early detection of cancer risk, leading to proactive screening and prevention.
• Personalized cancer surveillance and treatment plans.
• Informing family members about potential genetic risks.

Recovery

• No physical recovery needed.
• Emotional support may be beneficial once results are received.

Alternatives

• BRCA1/BRCA2 gene analysis.
• Comprehensive cancer panel testing.
• Regular cancer screening without genetic testing.
• Pros: Broader genetic testing may capture more risk factors.
• Cons: May be more costly and take longer to get results.

Patient Experience

• Minimal discomfort during sample collection.
• Wait time for lab results can be stressful.
• Genetic counseling may be recommended to discuss results and implications.
• Emotional support and resources are available for decision-making and coping.