Bilateral prophylactic oophorectomy and ovarian cancer screening following BRCA1/BRCA2 mutation testing.
OBJECTIVE
Despite the widespread availability of genetic testing for BRCA1/BRCA2 mutations, little is known about the impact of testing on ovarian cancer prevention and screening. For mutation testing to effect cancer mortality, positive test results must be followed by appropriate behavior change. In this study, we prospectively examined the impact of BRCA1/2 testing on the utilization of prophylactic oophorectomy and ovarian cancer screening.


METHODS
Participants were 289 high-risk women who underwent genetic counseling and testing for alterations in the BRCA1/2 genes. We measured self-reported receipt of bilateral prophylactic oophorectomy (BPO) and utilization of CA-125 and transvaginal ultrasound (TVU) in the year following testing, and examined the impact of test results on these outcomes. In addition, we examined the role of sociodemographic, medical, family history, and psychological variables on the receipt of BPO, CA-125, and TVU.


RESULTS
Twenty-seven percent of mutation carriers, 5% of uninformative patients, and 2% of noncarriers received a BPO in the year following testing. In addition to test results, perceived risk for ovarian cancer and family history of ovarian cancer independently predicted receipt of BPO. The receipt of a positive test result was associated with increased utilization of CA-125 and TVU. Additional predictors included perceived risk for ovarian cancer (both CA-125 and TVU) and state anxiety (CA-125).


CONCLUSIONS
These results demonstrate the significant behavioral impact of receiving a positive BRCA1/2 test result. The increased rate of oophorectomy among mutation carriers suggests that testing for BRCA1/2 mutations may ultimately impact ovarian cancer mortality.
Schwartz
Marc D
MD
Department of Oncology, Lombardi Cancer Center, Georgetown University, Washington, DC 20007, USA. schwartm@georgetown.edu
Kaufman
Elizabeth
E
Peshkin
Beth N
BN
Isaacs
Claudine
C
Hughes
Chanita
C
DeMarco
Tiffani
T
Finch
Clinton
C
Lerman
Caryn
C
D000328:Adult; D018394:CA-125 Antigen / Q000097:blood; D004219:District of Columbia; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010051:Ovarian Neoplasms / Q000097:blood / Q000000981:diagnostic imaging / Q000235:genetics* / Q000517:prevention & control* / Q000601:surgery; D010052:Ovariectomy / Q000706:statistics & numerical data*; D010342:Patient Acceptance of Health Care; D011446:Prospective Studies; D014463:Ultrasonography / Q000706:statistics & numerical data
D018394:CA-125 Antigen