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BRCAvantage®, Ashkenazi Jewish Screen

Test code(s) 91864

Question 1. What is this test for?

This test is designed to detect the 3 mutations known to be more common in people of Ashkenazi (Eastern European) Jewish descent: 185delAG and 5382insC in the BRCA1 gene and 6174delT in the BRCA2 gene.

About 1 in 40 Ashkenazi Jewish people has 1 of these 3 “founder” mutations. This carrier frequency is significantly higher than that in the general population (1 in 700).1-3 Thus, testing for the 3 mutations is a cost-effective way of identifying Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers.

For men and women of other ancestries, other BRCAvantage® tests may be more appropriate. For more information or to discuss a family history with a Quest Diagnostics genetic counselor, please call Quest Genomic Client Services at 866-GENE-INFO.

Question 2. To whom should this test be offered?

Generally, men and women of Ashkenazi (Eastern European) Jewish ancestry with either or both of the following:

  • A personal diagnosis of breast cancer, bilateral breast cancer, and/or ovarian cancer at any age
  • 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). The guidelines strongly recommend genetic counseling for the patient before ordering this test. The person in the family with the strongest indication of hereditary cancer, such as the person 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 3. Is there a better test for my patient?

If the patient is not of Ashkenazi Jewish descent, this test should not be ordered. Depending on the patient's personal and family histories, BRCAvantage®, Comprehensive (test code 91863) may be appropriate.

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]).

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 BRCA-related breast and/or ovarian cancer syndrome are met. For this scenario, consider BRCAvantage®, Ashkenazi Jewish Screen 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, or refer to the Hereditary Cancer Test Selection Guide.

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

Question 4. 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 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). 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 5. My patient has a negative result. What does this mean?

1. Patient with a known family history of 1 of the 3 Ashkenazi Jewish mutations

None of the 3 Ashkenazi Jewish mutations was found. The patient’s risk of breast and ovarian cancer is likely equivalent to that of the general population. In some instances, it may be appropriate to test for other hereditary forms of cancer.

2. Patient previously diagnosed with breast or ovarian cancer

None of the 3 Ashkenazi Jewish mutations was found. Consider the BRCAvantage®, Comprehensive test (test code 91863) if the patient meets clinical criteria. 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.

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

None of the 3 Ashkenazi Jewish mutations was found. Testing of an affected family member is recommended for proper risk assessment. Your patient’s risk of cancer is based on his/her personal and family history of cancer. Consider the BRCAvantage®, Comprehensive test (test code 91863) if the patient meets clinical criteria.

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.


References

  1. Whittemore AS, Gong G, Itnyre J. Prevalence and contribution of BRCA1 mutations in breast cancer and ovarian cancer: results from three U.S. population-based case-control studies of ovarian cancer. Am J Hum Genet. 1997;60:496-504.
  2. 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.
  3. American College of Obstetricians and Gynecologists. ACOG Practice Bulletin No. 103: Hereditary breast and ovarian cancer syndrome. Obstet Gynecol. 2009; 113:957-966.
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.
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