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

 Kyung Jin Eoh  ;  Hyung Seok Park  ;  Ji Soo Park  ;  Seung-Tae Lee  ;  Jeongwoo Han  ;  Jung-Yun Lee  ;  Sang Wun Kim  ;  Sunghoon Kim  ;  Young Tae Kim  ;  Eun Ji Nam 
 Cancer Research and Treatment, Vol.49(2) : 408-415, 2017 
Journal Title
 Cancer Research and Treatment 
Issue Date
Adult ; Aged ; Alleles ; Combined Modality Therapy ; Female ; Genes, BRCA1* ; Genes, BRCA2* ; Humans ; Middle Aged ; Multimodal Imaging/methods ; Mutation* ; Neoplasm Grading ; Neoplasm Staging ; Neoplasms, Glandular and Epithelial/diagnosis ; Neoplasms, Glandular and Epithelial/genetics* ; Neoplasms, Glandular and Epithelial/mortality* ; Neoplasms, Glandular and Epithelial/therapy ; Ovarian Neoplasms/diagnosis ; Ovarian Neoplasms/genetics* ; Ovarian Neoplasms/mortality* ; Ovarian Neoplasms/therapy ; Prognosis ; Sequence Analysis, DNA ; Survival Analysis ; Treatment Outcome
BRCA1 ; BRCA2 ; Ovarian epithelial cancer ; Prognosis
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%) BRCA1/2mutations 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: Patientswith BRCA1/2 mutation had longer OS than thosewith BRCA1/2wild type. Patients with BRCA1/2 mutation and BRCA1/2 VUS displayed similar prognoses.
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1. College of Medicine (의과대학) > Dept. of Obstetrics and Gynecology (산부인과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Surgery (외과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
김상운(Kim, Sang Wun) ORCID logo https://orcid.org/0000-0002-8342-8701
김성훈(Kim, Sung Hoon) ORCID logo https://orcid.org/0000-0002-1645-7473
김영태(Kim, Young Tae) ORCID logo https://orcid.org/0000-0002-7347-1052
남은지(Nam, Eun Ji)
박지수(Park, Ji Soo) ORCID logo https://orcid.org/0000-0002-0023-7740
박형석(Park, Hyung Seok) ORCID logo https://orcid.org/0000-0001-5322-6036
어경진(Eoh, Kyung Jin) ORCID logo https://orcid.org/0000-0002-1684-2267
이승태(Lee, Seung-Tae) ORCID logo https://orcid.org/0000-0003-1047-1415
이정윤(Lee, Jung-Yun) ORCID logo https://orcid.org/0000-0001-7948-1350
한정우(Han, Jung Woo) ORCID logo https://orcid.org/0000-0001-8936-1205
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