BRCA1 and BRCA2 mutation predictions using the BRCAPRO and Myriad models in Korean 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.
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.
Kyung Jin
KJ
Eoh
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.
Ji Soo
JS
Park
Hereditary Cancer Clinic of Cancer Prevention Center, Yonsei Cancer Center, Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea; Department of Surgery, Yonsei University College of Medicine, Seoul, Republic of Korea.
Hyung Seok
HS
Park
Hereditary Cancer Clinic of Cancer Prevention Center, Yonsei Cancer Center, Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea; Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Republic of Korea.
Seung-Tae
ST
Lee
Hereditary Cancer Clinic of Cancer Prevention Center, Yonsei Cancer Center, Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea; Department of Pediatrics, Yonsei University College of Medicine, Seoul, Republic of Korea.
Jeongwoo
J
Han
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.
Jung-Yun
JY
Lee
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.
Sang Wun
SW
Kim
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.
Sunghoon
S
Kim
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.
Young Tae
YT
Kim
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. Electronic address: NAHMEJ6@yuhs.ac.
Eun Ji
EJ
Nam
D018262:Adenocarcinoma, Clear Cell / Q000235:genetics*; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics; D018269:Carcinoma, Endometrioid / Q000235:genetics*; D003661:Decision Support Techniques; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D061325:Hereditary Breast and Ovarian Cancer Syndrome / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D008962:Models, Theoretical; D009154:Mutation; D018297:Neoplasms, Cystic, Mucinous, and Serous / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000235:genetics*; D011336:Probability; D012372:ROC Curve; D056910:Republic of Korea; D018570:Risk Assessment
BRCA1; BRCA2; BRCAPRO; Myriad BRCA risk calculator; Risk models