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Genetic testing

Breast and ovarian cancer syndrome is a genetic susceptibility to cancers caused by a  mutation in the BRCA1 and BRCA2 genes. A patient with a mutation in their BRCA gene may have a lifetime risk of up to 85% for developing breast cancer, and a lifetime risk of up to 50% for developing ovarian cancer. The overall lifetime risk for developing breast or ovarian cancer may be as high as 95%. 

BRCA mutations also increase the risk for other cancers in both men and women, including up to a 6% risk for male breast cancer, a rare malignancy in man.  For these reasons, a thorough family history that does not overlook ailments among paternal family members, is an important aid to identifying patients that may be at increased risk.  Half of the women with hereditary risk of breast and ovarian cancer have inherited this risk from their fathers, not their mothers.

Management of genetic risk begins with identifying patients that are candidates for testing, based on personal medical history and family history.  Those patients with significant histories may be candidates for genetic testing to identify the presence of mutations within the BRCA1 and BRCA2 gene sequences. 

Those individuals that are determined to carry a BRCA mutation are candidates for increased surveillance, and consideration to possible measures for cancer suppression.  Additionally, patients may elect further measured efforts toward risk reduction including  prophylactic surgeries.  Risk reduction for ovarian and breast cancer has been achieved in patients electing prophylactic mastectomy and oophorectomy procedures.  Mutation carriers with a personal history of breast and ovarian cancer also have an increased risk for a second primary cancer, and may elect more extensive surgery as part of their primary treatment rather than available more conservative measures.

 

 

 

 

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