BRCA1 and BRCA2 mutation predictions using the BRCAPRO and Myriad models in Korean ovarian cancer patients

Kyung Jin Eoh, Ji Soo Park, Hyung Seok Park, Seung Tae Lee, Jeongwoo Han, Jung Yun Lee, Sang Wun Kim, Sunghoon Kim, YoungTae Kim, Eun Ji Nam

Research output: Contribution to journalArticle

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Abstract

Objective 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. Methods 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. Results 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). Conclusion BRCAPRO and Myriad seem to be acceptable risk assessment tools for determining the risk of carrying BRCA mutations in Korean ovarian cancer patients.

Original languageEnglish
Pages (from-to)137-141
Number of pages5
JournalGynecologic Oncology
Volume145
Issue number1
DOIs
Publication statusPublished - 2017 Apr 1

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Ovarian Neoplasms
Mutation
Breast Neoplasms
Hospital Obstetrics and Gynecology Department
Genetic Testing
Korea
Gynecology
ROC Curve

All Science Journal Classification (ASJC) codes

  • Oncology
  • Obstetrics and Gynaecology

Cite this

Eoh, K. J., Park, J. S., Park, H. S., Lee, S. T., Han, J., Lee, J. Y., ... Nam, E. J. (2017). BRCA1 and BRCA2 mutation predictions using the BRCAPRO and Myriad models in Korean ovarian cancer patients. Gynecologic Oncology, 145(1), 137-141. https://doi.org/10.1016/j.ygyno.2017.01.026
Eoh, Kyung Jin ; Park, Ji Soo ; Park, Hyung Seok ; Lee, Seung Tae ; Han, Jeongwoo ; Lee, Jung Yun ; Kim, Sang Wun ; Kim, Sunghoon ; Kim, YoungTae ; Nam, Eun Ji. / BRCA1 and BRCA2 mutation predictions using the BRCAPRO and Myriad models in Korean ovarian cancer patients. In: Gynecologic Oncology. 2017 ; Vol. 145, No. 1. pp. 137-141.
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title = "BRCA1 and BRCA2 mutation predictions using the BRCAPRO and Myriad models in Korean ovarian cancer patients",
abstract = "Objective 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. Methods 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. Results 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). Conclusion BRCAPRO and Myriad seem to be acceptable risk assessment tools for determining the risk of carrying BRCA mutations in Korean ovarian cancer patients.",
author = "Eoh, {Kyung Jin} and Park, {Ji Soo} and Park, {Hyung Seok} and Lee, {Seung Tae} and Jeongwoo Han and Lee, {Jung Yun} and Kim, {Sang Wun} and Sunghoon Kim and YoungTae Kim and Nam, {Eun Ji}",
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Eoh, KJ, Park, JS, Park, HS, Lee, ST, Han, J, Lee, JY, Kim, SW, Kim, S, Kim, Y & Nam, EJ 2017, 'BRCA1 and BRCA2 mutation predictions using the BRCAPRO and Myriad models in Korean ovarian cancer patients', Gynecologic Oncology, vol. 145, no. 1, pp. 137-141. https://doi.org/10.1016/j.ygyno.2017.01.026

BRCA1 and BRCA2 mutation predictions using the BRCAPRO and Myriad models in Korean ovarian cancer patients. / Eoh, Kyung Jin; Park, Ji Soo; Park, Hyung Seok; Lee, Seung Tae; Han, Jeongwoo; Lee, Jung Yun; Kim, Sang Wun; Kim, Sunghoon; Kim, YoungTae; Nam, Eun Ji.

In: Gynecologic Oncology, Vol. 145, No. 1, 01.04.2017, p. 137-141.

Research output: Contribution to journalArticle

TY - JOUR

T1 - BRCA1 and BRCA2 mutation predictions using the BRCAPRO and Myriad models in Korean ovarian cancer patients

AU - Eoh, Kyung Jin

AU - Park, Ji Soo

AU - Park, Hyung Seok

AU - Lee, Seung Tae

AU - Han, Jeongwoo

AU - Lee, Jung Yun

AU - Kim, Sang Wun

AU - Kim, Sunghoon

AU - Kim, YoungTae

AU - Nam, Eun Ji

PY - 2017/4/1

Y1 - 2017/4/1

N2 - Objective 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. Methods 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. Results 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). Conclusion BRCAPRO and Myriad seem to be acceptable risk assessment tools for determining the risk of carrying BRCA mutations in Korean ovarian cancer patients.

AB - Objective 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. Methods 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. Results 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). Conclusion 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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