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BRCAvantage®, Rearrangements

Test code(s) 91866

This is an outdated version of this FAQ. It was effective 04/24/2015 to 07/22/2016.

 

The current version is available here.

 

Question 1. To whom should this test be offered?

This test should be offered to men or women who have had BRCA1 and BRCA2 gene sequencing but limited or no deletion/duplication studies.

For more information or to discuss a family history with a Quest Diagnostics genetic counselor, please call Quest Genomics Client Services at 866-GENE-INFO.

Question 2. Is there a better test for my patient?

When hereditary breast and ovarian cancer syndrome is suspected and no BRCA1 or BRCA2 mutation testing has been performed, consider ordering the BRCAvantage, Comprehensive test (test code 91863).

For individuals of Ashkenazi (Eastern European) Jewish heritage, consider ordering the BRCAvantage®, Ashkenazi Jewish Screen (test code 91864) as the first line test. If a familial mutation has been detected by sequencing or deletion/duplication studies, the BRCAvantage®, Single Site test (test code 91865) should be considered. Official test results of the family member must be available for laboratory review.

If the patient is of Ashkenazi Jewish descent and the familial mutation is unknown, testing for Ashkenazi Jewish founder-specific mutation(s) should be performed first. Full sequencing may be considered if ancestry also includes non-Ashkenazi Jewish relatives or if other clinical criteria for hereditary breast and ovarian cancer syndrome are met. For this scenario, consider BRCAvantage®, Ashkenazi JewishScreen with Reflex BRCAvantage, Comprehensive (test code 92140).

Additional tests are available to assess the risk of hereditary breast cancer. Please refer to the BRCAvantage Plus™Test Menu FAQ for a description of test codes 92587, 92573 and 92586.

The National Comprehensive Cancer Network (NCCN) has guidelines for BRCA1 and BRCA2 mutation testing (http://www.nccn.org/professionals/physician_gls/f_guidelines.asp). The guidelines strongly recommend genetic counseling for the patient before ordering this test. Generally, individuals with a personal diagnosis of early onset (≤50 years) breast cancer, bilateral breast cancer, and/or ovarian cancer and/or a strong family history of breast and/or ovarian cancer are appropriate for BRCAvantage®, Comprehensive testing. The person in the family with the earliest diagnosis of breast cancer should be tested first whenever possible.

For more information or to discuss a family history with a Quest Diagnostics genetic counselor, please call Quest Genomics Client Services at 866-GENE-INFO.

Question 3. My patient has a positive result. What does this mean?

If your patient tests positive for a pathogenic BRCA1 or BRCA2 deletion, duplication, or rearrangement, he/she is at significantly increased risk for developing breast and ovarian cancer and other BRCA1/BRCA2-related cancers compared to the general population.

The NCCN provides up-to-date surveillance and management recommendations for mutation carriers (http://www.nccn.org/professionals/physician_gls/f_guidelines.asp). Referral to an oncology center experienced in treating patients with a BRCA1 or BRCA2 mutation might be considered to discuss options. These options include increased surveillance, chemoprevention, and prophylactic surgery.

Question 4. My patient has a negative result. What does this mean?

  • Patient previously diagnosed with breast or ovarian cancer:

No rearrangement was found. Your patient’s risk of recurrence is based on his/her personal and family histories of cancer. In some instances, it may be appropriate to test for other hereditary forms of cancer. Call Quest Genomics Client Services at 866-GENE-INFO to discuss possible further studies.

  • Patient not previously diagnosed with breast or ovarian cancer, but with a family history of breast and/or ovarian cancer:

No rearrangement was found. Testing an affected family member is recommended for proper risk assessment. Your patient’s risk of cancer is based on his/her personal and family histories of cancer. In some instances, it may be appropriate to test for other hereditary forms of cancer. Call Quest Genomics Client Services at 866-GENE-INFO to discuss possible further studies.

 

Reference
 
  1. National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology. Genetic/familial high-risk assessment: breast and ovarian. V2.2014. Rockledge, PA: National Comprehensive Cancer Network, 2014. Available online with free registration.
This FAQ is provided for informational purposes only and is not intended as medical advice. A physician’s test selection and interpretation, diagnosis, and patient management decisions should be based on his/her education, clinical expertise, and assessment of the patient.
Document FAQS.122 Version: 1
Version 1 effective 04/24/2015 to present