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Comparison of Clinical Outcomes of BRCA1/2 Pathologic Mutation, Variants of Unknown Significance, or Wild Type Epithelial Ovarian Cancer Patients

  • Eoh, Kyung Jin (Department of Obstetrics and Gynecology, Institute of Women's Life Medical Science, Women's Cancer Clinic, Yonsei University College of Medicine) ;
  • Park, Hyung Seok (Hereditary Cancer Clinic of Cancer Prevention Center, Yonsei Cancer Center, Severance Hospital, Yonsei University College of Medicine) ;
  • Park, Ji Soo (Hereditary Cancer Clinic of Cancer Prevention Center, Yonsei Cancer Center, Severance Hospital, Yonsei University College of Medicine) ;
  • Lee, Seung-Tae (Hereditary Cancer Clinic of Cancer Prevention Center, Yonsei Cancer Center, Severance Hospital, Yonsei University College of Medicine) ;
  • Han, Jeongwoo (Hereditary Cancer Clinic of Cancer Prevention Center, Yonsei Cancer Center, Severance Hospital, Yonsei University College of Medicine) ;
  • Lee, Jung-Yun (Department of Obstetrics and Gynecology, Institute of Women's Life Medical Science, Women's Cancer Clinic, Yonsei University College of Medicine) ;
  • Kim, Sang Wun (Department of Obstetrics and Gynecology, Institute of Women's Life Medical Science, Women's Cancer Clinic, Yonsei University College of Medicine) ;
  • Kim, Sunghoon (Department of Obstetrics and Gynecology, Institute of Women's Life Medical Science, Women's Cancer Clinic, Yonsei University College of Medicine) ;
  • Kim, Young Tae (Department of Obstetrics and Gynecology, Institute of Women's Life Medical Science, Women's Cancer Clinic, Yonsei University College of Medicine) ;
  • Nam, Eun Ji (Department of Obstetrics and Gynecology, Institute of Women's Life Medical Science, Women's Cancer Clinic, Yonsei University College of Medicine)
  • Received : 2016.03.29
  • Accepted : 2016.07.08
  • Published : 2017.04.15

Abstract

Purpose The purpose of this study was to investigate the clinical features of epithelial ovarian cancer (EOC) patients according to BRCA1/2 mutation status (mutation, variant of uncertain significance [VUS], or wild type). Materials and Methods We analyzed 116 patients whose BRCA1/2 genetic test results were available for mutation type and clinical features, including progression-free survival (PFS), overall survival (OS), and response rate. These characteristics were compared according to BRCA1/2 mutation status. Results Thirty-seven (37/116, 31.9%) BRCA1/2 mutations were identified (BRCA1, 30; BRCA2, 7). Mutation of c.3627_3628insA (p.Leu1209_Glu1210?fs) in BRCA1 was observed in five patients (5/37, 13.5%). Twenty-five patients had BRCA1/2 VUSs (25/116, 21.6%). Personal histories of breast cancer were observed in 48.6% of patients with BRCA1/2 mutation (18/37), 16.0% of patients with BRCA1/2 VUS (4/25), and 7.4% of patients with BRCA wild type (4/54) (p < 0.001). Patients with BRCA1/2 mutation showed longer OS than those with BRCA1/2 wild type (p=0.005). No significant differences were detected in PFS, OS, or response rates between patients with BRCA1/2 VUS and BRCA1/2 mutation (p=0.772, p=0.459, and p=0.898, respectively). Conclusion Patients with BRCA1/2 mutation had longer OS than those with BRCA1/2wild type. Patients with BRCA1/2 mutation and BRCA1/2 VUS displayed similar prognoses.

Acknowledgement

Supported by : National Research Foundation of Korea (NRF)

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