Name of the Procedure:

BRCA1 Gene Analysis; Full Sequence Analysis and Common Duplication/Deletion Variants (Including Exon 13 del 3.835kb, Exon 13 dup 6kb, Exon 14-20 del 26kb, Exon 22 del 510bp, Exon 8-9 del 7.1kb)

Summary

BRCA1 gene analysis is a genetic test that examines the BRCA1 gene for mutations or changes, including full sequence analysis and detection of common duplication/deletion variants. This test helps identify inherited mutations that increase the risk of developing breast and ovarian cancers.

Purpose

BRCA1 gene analysis is primarily used to:

• Identify individuals at high risk for hereditary breast and ovarian cancers.
• Guide personalized treatment and preventative measures.
• Enable family members to understand their own risk.

Indications

The test is recommended for individuals who:

• Have a family history of breast or ovarian cancer.
• Have multiple family members diagnosed with breast cancer, especially at a young age.
• Are diagnosed with triple-negative breast cancer.
• Have a known BRCA1 mutation in the family.

Preparation

• No special preparation is required.
• Patients might be advised to provide a detailed family medical history.
• Genetic counseling is recommended before and after the test.

Procedure Description

1. Sample Collection: A blood sample or a saliva sample is collected.
2. DNA Extraction: DNA is extracted from the sample in a laboratory.
3. Sequencing and Analysis: The BRCA1 gene is sequenced to identify any mutations. Specific tests for known duplications/deletions (e.g., exon 13 del 3.835kb, exon 13 dup 6kb) are also performed.
4. Interpretation: A geneticist or a specialized lab clinician interprets the results.

Duration

The procedure of collecting the sample takes a few minutes. Full sequence analysis and interpretation of results typically take several weeks.

Setting

The sample collection is usually performed in a hospital, outpatient clinic, or specialized genetic testing center. The analysis is conducted in a specialized laboratory.

Personnel

• Genetic counselor
• Phlebotomist or nurse (for sample collection)
• Medical geneticist or laboratory technician
• Oncologist or specialized healthcare provider (for results consultation)

Risks and Complications

• Minimal risk of bleeding or bruising at the sample collection site.
• Psychological impact related to the test results is a consideration.
• Possible insurance and privacy concerns.

Benefits

• Enables early detection and preventative measures for high-risk individuals.
• Allows for personalized treatment plans.
• Helps inform family members about their risk.

Recovery

• There is no physical recovery needed post-sample collection.
• Genetic counseling is recommended to discuss the results and next steps.
• Follow-up appointments may be needed to discuss preventive or treatment plans.

Alternatives

• Other genetic tests focusing on different genes (e.g., BRCA2).
• Regular screening and monitoring without genetic testing.
• Risk-reducing surgeries or medications based on family history and clinical findings.

Patient Experience

• The patient may experience brief discomfort during sample collection.
• Emotional responses to the results are common; support and counseling are advised.
• Psychological support and reassurance regarding privacy and confidentiality of the genetic information can be beneficial.