A woman whose sister tested positive for a specific mutation in the BRCA1 gene, which increases the risk for breast and ovarian cancer, is found not to have that mutation but does have a mutation of unknown significance near the known mutation site. How should this woman be counseled?
A)She should be informed that her risk for breast cancer is greater than that of the general population but not as great as her sister's risk.
B)She should be informed that because she does not have the mutation, her risk for breast cancer is not greater than that of the general population.
C)She should be informed that she does not have the specific mutation but that because another mutation is present, she should be vigilant about screening.
D)She should be informed of her gene-mutation status and be presented with all the available prophylaxis options and reconstruction options.

Question

Quizplus · Accepted Answer

Inconclusive test results can be confusing to patients. These results mean that a known mutation has not been identified, but some gene variant has been found. It is unknown at this time whether or not it can result in increased cancer risk. This patient should continue with recommended screening guidelines based on her family history.

A Woman Whose Sister Tested Positive for a Specific Mutation