Institute of Women's Life Medical Science, Women's Cancer Clinic, Department of Obstetrics and Gynecology, Yonsei University College of Medicine, Seoul, Republic of Korea.
Hereditary Cancer Clinic of Cancer Prevention Center, Yonsei Cancer Center, Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea; Cancer Prevention Center, Yonsei Cancer Center, Seoul, Republic of Korea.
Gynecol Oncol. 2017 Apr;145(1):137-141. doi: 10.1016/j.ygyno.2017.01.026. Epub 2017 Feb 1.
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.
评估遗传风险预测模型 BRCAPRO 和 Myriad BRCA 风险计算器在韩国卵巢癌患者中的预测效能，包括敏感性和阳性预测值。
从 2010 年 11 月至 2016 年 8 月，从韩国一家机构的妇产科招募接受 BRCA 突变基因检测的个体。使用 BRCAPRO 和 Myriad BRCA 风险计算器将观察到的 BRCA1 和 BRCA2 突变状态与预测的携带者概率进行比较。
共招募 232 名患者，其中 99.1%（230/232）为韩国人。232 名个体中，206 名为卵巢癌，26 名为双原发性乳腺癌/卵巢癌。36 名个体的一级亲属中有乳腺癌/卵巢癌家族史。57 名患者（24.6%）BRCA 基因突变检测阳性（41 名 BRCA1，16 名 BRCA2）。所有患者的平均 BRCAPRO 和 Myriad 评分分别为 6.4%和 7.7%。BRCA 突变阳性状态患者的评分明显更高（29.0%比 6.1%，P<0.001，12.1%比 7.7%，P<0.001）。对于所有患者，BRCAPRO 和 Myriad 模型预测携带 BRCA 突变风险的受试者工作特征曲线下面积分别为 0.720 和 0.747。两种模型均高估了有乳腺癌/卵巢癌家族史患者的突变概率（分别为 1.55 倍和 1.50 倍），低估了无家族史患者的概率（均为 0.54 倍）。
BRCAPRO 和 Myriad 似乎是评估韩国卵巢癌患者携带 BRCA 突变风险的可接受的风险评估工具。
