BRCAvantage™, Comprehensive

Test Code 906369

Question 1. Who should be offered BRCA1 and BRCA2 mutation testing?

Generally, men and women with either or both of the following:

  • A personal diagnosis of early onset (≤50 years) breast cancer, bilateral breast cancer, and/or ovarian cancer
  • 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 genetic counselor, please call 1-866-GENE-INFO (436-3463).

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

If the familial BRCA1 or BRCA2 mutation is known, contact a genetic counselor at 1-866-GENE-INFO (436-3463) to help you select the most appropriate test. For individuals of Ashkenazi (Eastern European) Jewish heritage, the BRCAvantage, Ashkenazi Jewish Screen (test code 906366) should be performed first.

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?

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 1-866-GENE-INFO (436-3463) 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 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 1-866-GENE-INFO (436-3463) 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 1-866-GENE-INFO (436-3463) to discuss with a genetic counselor if you have further questions.

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.

 

BRCAvantage™, Ashkenazi Jewish Screen

Test Code 906366

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 genetic counselor, please call 1-866-GENE-INFO (436-3463).

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/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 genetic counselor, please call 1-866-GENE-INFO (436-3463).

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 906396) 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 906366]) and the familial mutation (BRCAvantage™, Single Site [test code 906368]). For more information or to discuss a family history with a genetic counselor, please call 1-866-GENE-INFO (436-3463).

Question 4. 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 and 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 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 equivalent to that of the general population.
  
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 906396) if the patient meets clinical criteria. 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 1-866-GENE-INFO (436-3463) to discuss possible further studies.
  
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 906396) if the patient meets clinical criteria. In some instances, it may be appropriate to test for other hereditary forms of cancer. Call 1-866-GENE-INFO (436-3463) to discuss possible further studies.

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. V4.2013. http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf. Accessed August 15, 2013.
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.

 

BRCAvantage™, Rearrangements

Test Code 906367

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 genetic counselor, please call 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 906396). For individuals of Ashkenazi (Eastern European) Jewish heritage, consider ordering the BRCAvantage™, Ashkenazi Jewish Screen (test code 906366) 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 906368) should be considered. Official test results of the family member must be available for laboratory review.

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 genetic counselor, please call 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 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 866-GENE-INFO to discuss possible further studies.

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.

 

BRCAvantage™, Single Site

Test Code 906368 

Question 1. To whom should this test be offered?

Consider offering this test to men and women with a family history of a known mutation in the BRCA1 or BRCA2 gene. Official test results of the family member must be available for laboratory review. For more information or to discuss a family history with a genetic counselor, please call 866-GENE-INFO.

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

When hereditary breast and ovarian cancer syndrome is suspected, and no previous BRCA1 or BRCA2 mutation test result is available for your patient and/or family member, consider ordering the BRCAvantage™, Comprehensive test (test code 906396). For individuals of Ashkenazi (Eastern European) Jewish heritage, consider ordering the BRCAvantage™, Ashkenazi Jewish Screen (test code 906366) as a first line test.

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 genetic counselor, please call 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 mutation, he/she is at significantly increased risk for developing breast and 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?

Patient previously diagnosed with breast or ovarian cancer

The familial mutation was not found. Your patient’s risk of recurrence or a related new cancer is based on his/her personal history of cancer. In some instances, it may be appropriate to test for other BRCA1 or BRCA2 mutations or hereditary forms of cancer. Call 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

The familial mutation was not found. The patient’s risk of breast and ovarian cancer will likely be the same as that of the general population. Family history of cancers not related to BRCA mutations should be considered.

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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