Name of the Procedure:

Oncology - Somatic Mutation Analysis of BRCA1 and BRCA2, and Homologous Recombination Deficiency Pathways, DNA Analysis, Formalin-Fixed Paraffin-Embedded Tissue (FFPE).

Summary

This procedure involves analyzing a cancer patient's tumor tissue to detect mutations in the BRCA1 and BRCA2 genes, as well as assessing other pathways involved in DNA repair. These mutations can influence cancer treatment decisions, especially for breast and ovarian cancers.

Purpose

The procedure aims to identify mutations in the BRCA1 and BRCA2 genes, which are essential for DNA repair. Understanding a patient's genetic mutations helps tailor personalized treatment plans, potentially improving outcomes. It also helps in assessing the efficacy of specific treatments, like PARP inhibitors, which are more effective in cancers with these mutations.

Indications

• Patients with diagnosed solid tumors, especially breast and ovarian cancers.
• Family history of BRCA-related cancers.
• Tumors that might benefit from targeted therapies based on genetic profiles.

Preparation

• No special preparation is typically needed from the patient.
• The tumor sample, usually obtained during a previous biopsy or surgery, is formalin-fixed and paraffin-embedded.
• The patient’s medical history and prior genetic tests may be reviewed.

Procedure Description

1. Sample Preparation: The FFPE tumor tissue is prepared for analysis.
2. DNA Extraction: DNA is extracted from the preserved tissue.
3. Sequencing: Advanced sequencing technology is utilized to analyze the BRCA1 and BRCA2 genes and homologous recombination deficiency pathways.
4. Data Analysis: Bioinformatics tools are applied to interpret the sequencing results, identifying any mutations or defects.

Duration

The laboratory process takes approximately 1-2 weeks from sample preparation to receiving the results.

Setting

This is a laboratory-based procedure performed in specialized genetic testing labs, not involving the patient directly during the analysis.

Personnel

• Laboratory technicians and molecular geneticists.
• Oncologists and genetic counselors for result interpretation and patient consultation.

Risks and Complications

• Minimal risks since it involves analyzing existing tissue samples.
• Rare chances of failed analysis due to inadequate sample quality.
• Psychological impacts upon learning about genetic mutations.

Benefits

• Precise identification of genetic mutations can significantly enhance personalized treatment plans.
• Improved outcomes with targeted therapies.
• Better understanding of cancer prognosis and potential hereditary risks.

Recovery

• There is no physical recovery since it is a lab-based analysis.
• Psychological support may be offered for patients who receive significant genetic findings.

Alternatives

• Standard treatment based on histological tumor type without genetic profiling.
• Other genetic testing methods, though they may not offer the same depth of information.

Pros and Cons of Alternatives:

• Standard treatment: less personalized, potentially less effective.
• Other genetic tests: might not provide comprehensive information on homologous recombination pathways.

Patient Experience

• The patient has no direct experience of the procedural aspects since it's a lab-based test.
• Emotional responses vary upon receiving genetic test results, necessitating support and counseling for the interpretation of findings. Pain management or comfort measures are not required for the lab procedure.