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Draft Genetic Test Review

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Breast Cancer
Disorder Setting

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DISORDER/SETTING

Question 1: What is the specific clinical disorder to be studied?
Question 2: What are the clinical findings defining this disorder?
Question 3: What is the clinical setting in which the test is to be performed?
Question 4: What DNA test(s) are associated with this disorder?
Question 5: Are preliminary screening questions employed?
Question 6: Is it a stand-alone test or is it one of a series of tests?
Question 7: If it is part of a series of screening tests, are all tests performed in all instances (parallel) or are only some tests performed on the basis of other results (series)?

DISORDER/SETTING

Question 6. Is it a stand-alone test or one of a series of tests?

BRCA1/2 mutation testing is the second of two tests in a series. Screening questions pertaining to personal and family history of breast/ovarian cancer, age at diagnosis, ethnicity, and the woman's age are used as the first step in assessing a patient's risk for breast cancer. If the responses to these questions confer a 10 percent or higher risk of carrying a BRCA1/2 mutation, then DNA analysis for breast/ovarian cancer predisposition is the second test of this series (see Question 5 for risk modeling). In some instances, if a single- or multi-site analysis is negative for a mutation, comprehensive full-gene sequencing may be done as a reflexive test. Question 5 lists the reasons for why a preliminary screening question is necessary. About half of the women with a BRCA1/2 mutation will have a positive family history (Question 18 and 19).

DISORDER/SETTING

Question 7. If it is part of a series of screening tests, are all tests performed in all instances (parallel) or are some tests performed only on the basis of other results (series)?

Breast/ovarian cancer predisposition testing for BRCA1/2 mutations is usually performed when family history screening questions provide an indication (10 percent or greater risk of carrying a mutation - Question 5). Thus, the screening questions and DNA tests are done in series. If a single- or multi-site analysis is negative for a mutation, full gene sequencing can be done as a reflexive test.

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Page last reviewed: June 8, 2007 (archived document)
Page last updated: November 2, 2007
Content Source: National Office of Public Health Genomics