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BRCAvantage™, Comprehensive

Test code(s) 91863

This is an outdated version of this FAQ. It was effective 04/22/2015 to 07/21/2016.

 

The current version is available here.

 

Question 1. Who may be appropriate for BRCA1 and BRCA2 mutation testing?

In general:

  • Those with a known BRCA1 or BRCA2 mutation in the family
  • Women with a personal diagnosis of early onset (≤45 years) breast cancer, triple negative (ER-, PR-, HER2-) breast cancer diagnosed when ≤60 years old, bilateral breast cancer diagnosed when ≤50 years old, and/or epithelial ovarian cancer at any age
  • Men with breast cancer at any age
  • Those with a strong family history of breast and/or ovarian cancer

The National Comprehensive Cancer Network (NCCN) has more detailed criteria for selecting individuals for genetic testing (http://www.nccn.org/professionals/physician_gls/f_guidelines.asp).The guidelines strongly recommend genetic counseling for the patient before ordering this test. The person in the family with the earliest diagnosis of breast and/or ovarian 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 2. Is there a better test for my patient?

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.

For individuals of Ashkenazi (Eastern European) Jewish heritage, the BRCAvantage®, Ashkenazi Jewish Screen (test code 91864) 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 w/Reflex BRCAvantage, Comprehensive (test code 92140).

If the patient is of Ashkenazi Jewish descent and the familial mutation is not 1 of the 3 Ashkenazi Jewish founder mutations, consider testing the patient for both the founder mutations (BRCAvantage®, Ashkenazi Jewish Screen [test code 91864]) and the familial mutation (BRCAvantage®, Single Site [test code 91865]).

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, or refer to the Hereditary Cancer Test Selection Guide. 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 deleterious BRCA1 or BRCA2 mutation, he/she is at significantly increased risk for developing breast or ovarian cancer and other 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?

1. Patient previously diagnosed with breast or ovarian cancer

No mutation was found in BRCA1 or BRCA2. Your patient’s risk of recurrence or a related new 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.

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

No mutation was found in BRCA1 or BRCA2. 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.

Question 5. My patient has a variant of uncertain significance. What does this mean?

Variants that have not been previously described in the literature or whose significance is unclear based upon all currently available evidence must be correlated with the patient’s clinical presentation and family history. Family studies may be indicated to better understand the clinical significance of this variant. Please call Quest Genomics Client Services at 866-GENE-INFO to discuss with a genetic counselor if you have further questions.

 

Reference
 
  1. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology. Genetic/familial high-risk assessment: breast and ovarian. V2.2014. 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.120 Version: 2
 
Version 2 effective 04/22/2015 to present