Name of the Procedure:

Hereditary Breast Cancer-Related Disorders Duplication/Deletion Analysis Panel

Summary

This genetic test analyzes specific genes to detect duplications or deletions, which can indicate an increased risk for hereditary breast, ovarian, and endometrial cancer. It focuses on detecting changes in the BRCA1, BRCA2, MLH1, MSH2, and STK11 genes.

Purpose

The procedure aims to identify genetic mutations associated with an increased risk of hereditary breast, ovarian, and endometrial cancer. By doing so, it aids in early diagnosis and allows for proactive management of cancer risk.

Indications

• Family history of breast, ovarian, or endometrial cancer.
• Individuals with known familial mutations in BRCA1, BRCA2, MLH1, MSH2, or STK11 genes.
• Early-onset breast, ovarian, or endometrial cancer diagnosis.
• Multiple primary cancers in one individual.

Preparation

• Minimal preparation is required.
• Genetic counseling is advised before undergoing the test to understand the implications and outcomes.
• A blood sample or saliva sample might be required.

Procedure Description

1. A blood or saliva sample is collected from the patient.
2. The sample is then analyzed in a laboratory using specialized equipment.
3. The genes BRCA1, BRCA2, MLH1, MSH2, and STK11 are specifically examined for duplications or deletions.
4. The genetic data is interpreted by a medical geneticist or a trained specialist.

Duration

The sample collection takes a few minutes while the analysis may take several weeks.

Setting

The sample can be collected in an outpatient clinic, hospital, or a dedicated laboratory setting.

Personnel

• Genetic counselor
• Phlebotomist or lab technician (for sample collection)
• Medical geneticist or genetic testing specialist (for analysis)

Risks and Complications

• Minimal risk associated with blood sample collection (e.g., slight bruising or infection at the puncture site).
• Psychological impact due to the potential outcomes and implications of the results.

Benefits

• Early identification of genetic risk factors.
• Enables personalized surveillance and preventive measures.
• Informs family members of potential risks, enabling early interventions.

Recovery

• No physical recovery is needed.
• Psychological support or counseling may be recommended based on the results.

Alternatives

• Single-gene testing: Focuses on one gene rather than a panel of genes.
• Whole exome sequencing: A more extensive test but is more expensive and may take longer.
• Regular cancer screenings and awareness of family history without genetic testing.

Patient Experience

• The sample collection is relatively quick and painless.
• Patients may experience anxiety awaiting results and should seek support from genetic counselors to interpret outcomes and plan proactive measures.