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?

Question

Giovani Leon

Social Studies

9 September, 13:37

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?

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Antwan Cooke · Answer 1

The woman should be informed that she has higher risk for breast cancer than other people but less risk than her sister. The woman must be informed about the status of her gene mutation and should be presented with the options for prophylaxis and other reconstruction options. She must be informed that she did not have the same mutation as her sister but there is another mutation which is present in the body and she should be vigilant for screening. The woman should also be informed that as she does not have the mutation, her risk of having breast cancer is not more when compared with the general population.