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abstract
June 17, 2016
Keywords
BRCA1/2
Hereditary ovarian cancer
Disparities
Genetic counseling
Ovarian cancer is an
uncommon but deadly disease. There is no effective screening for the
disease, and the majority of women with ovarian cancer present in
advanced stage and eventually die from their disease. The majority of
families with multiple cases of breast and ovarian cancer are found to
carry germline mutations in BRCA1/2.
Recent, more sensitive sequencing techniques have shown that nearly
20 % of ovarian cancer is associated with germline mutations in cancer
susceptibility genes, with approximately 15 % accounted for by
deleterious mutations in BRCA1/2. Women found to have mutations in BRCA1/2
can be empowered to make decisions on reproduction, cancer prevention,
or treatment that may either avoid cancer or prolong survival. Though
initial studies suggested that African American (AA) women were
significantly less likely than White women to have mutations in BRCA1/2, this has been found to be untrue. Despite this revelation, and the clear importance of BRCA1/2
mutation status to appropriate clinical management, AA women still
undergo genetic counseling and testing at much lower rates than do
comparable White women. This disparity is not explained by factors such
as calculated risk of a mutation, insurance coverage, or previous
knowledge of the availability of testing. To date, no effective
strategies have been identified that can overcome this disparity.
Possible approaches include use of patient navigators, online social
media, or EMR-based decision support aids. Funders should support
research in this area, as it represents an actionable means to decrease
the burden of ovarian and breast cancer in AA women.
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