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Breast Cancer Research and Treatment

, Volume 134, Issue 3, pp 1189–1197 | Cite as

Accuracy of BRCA1/2 mutation prediction models in Korean breast cancer patients

  • Eunyoung Kang
  • Sue K. Park
  • Jae Jeong Yang
  • Boyoung Park
  • Min Hyuk Lee
  • Jong Won Lee
  • Young Jin Suh
  • Jeong Eon Lee
  • Hyun-Ah Kim
  • Se Jeong Oh
  • Sung-Won Kim
  • Korean Breast Cancer Society
Epidemiology

Abstract

BRCAPRO and Myriad II are widely used models for predicting BRCA1/2 mutation probability before genetic testing. However, the accuracy of these models in Koreans is not known. This study was performed to evaluate the accuracy of the BRCAPRO and Myriad II models. Two hundred thirty-six women with breast cancer who underwent comprehensive BRCA1/2 genetic testing at our hospital between 2003 and 2010 were included in this study. We evaluated the performance of each model by comparing the numbers of observed versus predicted mutation carriers. We calculated sensitivity, specificity, and predictive values at 10 % estimated probability. Forty-six individuals were identified to carry a deleterious BRCA mutation. The prevalence of BRCA mutation (19.5 %) was significantly higher than that predicted by BRCAPRO (9.0 %, p = 0.001) and Myriad (5.6 %, p < 0.001). In familial breast cancer patients, BRCA mutation rate (observed 22.7 %) was underestimated by both BRCAPRO (expected 11.4 %, p = 0.006) and Myriad II (expected 6.4 %, p < 0.001). Subgroup analyses showed that both models underestimated the risk of BRCA mutation in patients with a family history of breast cancer (probands’ age at breast cancer diagnosis >50 years), with only one relative with breast cancer, and with non-familial early-onset breast cancer or bilateral breast cancer. Using a 10 % cut-off, the sensitivities were 47.8 % (BRCAPRO) and 50.0 % (Myriad), and positive predictive values were 44.9 % (BRCAPRO) and 43.4 % (Myriad). Both BRCAPRO and Myriad II underestimated the risk of BRCA1/2 mutation in Koreans. Our findings suggest that these models are less sensitive in Korean women, and therefore a new BRCA mutation prediction model based on Korean data is needed for proper genetic counseling.

Keywords

BRCA Mutation BRCAPRO Myriad II Prediction model 

Notes

Acknowledgments

This study was supported by a grant from the National R&D Program for Cancer Control, Ministry for Health, Welfare and Family affairs, Republic of Korea (1020350).

Conflict of interest

None.

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Copyright information

© Springer Science+Business Media, LLC. 2012

Authors and Affiliations

  • Eunyoung Kang
    • 1
  • Sue K. Park
    • 2
    • 3
    • 4
  • Jae Jeong Yang
    • 2
  • Boyoung Park
    • 5
  • Min Hyuk Lee
    • 6
  • Jong Won Lee
    • 7
  • Young Jin Suh
    • 8
  • Jeong Eon Lee
    • 9
  • Hyun-Ah Kim
    • 10
  • Se Jeong Oh
    • 11
  • Sung-Won Kim
    • 1
  • Korean Breast Cancer Society
    • 12
  1. 1.Department of SurgerySeoul National University Bundang HospitalSeongnamsiKorea
  2. 2.Department of Preventive MedicineSeoul National University College of MedicineSeoulKorea
  3. 3.Department of Biomedical ScienceSeoul National University Graduate SchoolSeoulKorea
  4. 4.Cancer Research InstituteSeoul National UniversitySeoulKorea
  5. 5.National Cancer Control InstituteNational Cancer CenterGoyangKorea
  6. 6.Department of SurgerySoonchunhyang University HospitalSeoulKorea
  7. 7.Department of Surgery, Asan Medical Center, College of MedicineUniversity of UlsanSeoulKorea
  8. 8.Department of SurgerySt. Vincent’s Hospital, The Catholic University of KoreaSuwonKorea
  9. 9.Department of Surgery, Samsung Medical CenterSungkyunkwan UniversitySeoulKorea
  10. 10.Department of SurgeryKorea Institute of Radiological and Medical Science, Korea Cancer Center HospitalSeoulKorea
  11. 11.Department of SurgeryIncheon St. Mary’s Hospital, The Catholic University of Korea College of MedicineIncheonKorea
  12. 12.SeoulKorea

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