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BRCAvantage™, Comprehensive

Test code(s) 91863

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 ovarian carcinoma at any age
  • Men with breast cancer at any age
  • Personal history of pancreatic or prostate cancer with a family history of BRCA-related cancers
  • Those with a strong family history of breast and/or ovarian carcinoma

The National Comprehensive Cancer Network (NCCN) has more detailed criteria for selecting individuals for genetic testing (https://www.nccn.org).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 Jewish Screen 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 pathogenic or likely pathogenic 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 (https://www.nccn.org). 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. Please call Quest Genomics Client Services at 866-GENE-INFO to discuss possible additional studies with a genetic counselor.

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. Please call Quest Genomics Client Services at 866-GENE-INFO to discuss possible additional studies with a genetic counselor.

Question 5. My patient has a variant of unknown clinical significance (VUS). What does this mean?

A VUS result means that the variant has not been previously described in the literature or the clinical significance is unclear based upon currently available evidence. Medical management decisions should be based on personal and family history. Family studies may help better understand the clinical significance of this variant. If you have questions, please call Quest Genomics Client Services at 866-GENE-INFO to speak with a genetic counselor.

Reference

  1. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology. Genetic/familial high-risk assessment: breast and ovarian. V2.2016. Rockledge, PA: National Comprehensive Cancer Network, 2016. 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.