- •The BRCAPRO and Myriad models were assessed in 232 Korean ovarian cancer patients.
- •Both models were sufficiently specific and sensitive in this population.
- •The BRCA mutation risk was overestimated in those with a family history of cancer.
- •The BRCA mutation risk was underestimated in those without a family history.
- •These results support a universal testing strategy for all ovarian cancer patients.
To evaluate the predictive efficacies including sensitivity and positive predictive value of the genetic risk prediction model BRCAPRO and the Myriad BRCA risk calculator in Korean ovarian cancer patients.
Individuals undergoing genetic testing for BRCA mutations from November 2010–August 2016 were recruited from the Department of Obstetrics and Gynecology at a single institute in Korea. The observed BRCA1 and BRCA2 mutation statuses were compared with the predicted carrier probabilities using BRCAPRO and the Myriad BRCA risk calculator.
Two hundred thirty-two patients were recruited, of whom 99.1% (230/232) were of Korean ethnicity. Of the 232 individuals, 206 and 26 had ovarian and double primary breast/ovarian cancer, respectively. Thirty-six individuals had a family history of breast/ovarian cancer in first-degree relatives. Fifty-seven patients (24.6%) tested positive for BRCA mutation (41 BRCA1, 16 BRCA2). The mean BRCAPRO and Myriad scores for all patients were 6.4% and 7.7%, respectively. The scores were significantly higher for patients with positive BRCA mutation status (29.0% vs. 6.1%, P < 0.001, 12.1% vs. 7.7%, P < 0.001, respectively). For all patients, the respective areas under the receiver operating characteristics curves were 0.720 and 0.747 for the BRCAPRO and Myriad models to predict the risk of carrying a BRCA mutation. Both models overestimated the mutation probability in patients with a family history of breast/ovarian cancer (1.55-fold and 1.50-fold, respectively) and underestimated the probability in patients without a family history (both, 0.54-fold).
BRCAPRO and Myriad seem to be acceptable risk assessment tools for determining the risk of carrying BRCA mutations in Korean ovarian cancer patients.
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Published online: February 01, 2017
Accepted: January 22, 2017
Received in revised form: January 20, 2017
Received: December 7, 2016
© 2017 Elsevier Inc. All rights reserved.