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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2017.1
- 수록면
- 408 - 415 (8page)
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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 Patients with BRCA1/2mutation had longer OS than those with BRCA1/2wild type. Patients with BRCA1/2 mutation and BRCA1/2 VUS displayed similar prognoses.
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참고문헌 (24)
참고문헌 신청
Aida H / 1998 / Clinical features of ovarian cancer in Japanese women with germ-line mutations of BRCA1 / Clin Cancer Res 4 : 235 ~ 240
Calo V / 2010 / The clinical significance of unknown sequence variants in BRCA genes / Cancers(Basel) 2 : 1644 ~ 1660
Chen S / 2006 / Characterization of BRCA1 and BRCA2 mutations in a large United States sample / J Clin Oncol 24 : 863 ~ 871
Choi MC / 2015 / Germline mutations of BRCA1 and BRCA2 in Korean ovarian cancer patients : finding founder mutations / Int J Gynecol Cancer 25 : 1386 ~ 1391
Easton DF / 2007 / A systematic genetic assessment of 1, 433sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes / Am
Calo V / 2010 / The clinical significance of unknown sequence variants in BRCA genes / Cancers(Basel) 2 : 1644 ~ 1660
Chen S / 2006 / Characterization of BRCA1 and BRCA2 mutations in a large United States sample / J Clin Oncol 24 : 863 ~ 871
Choi MC / 2015 / Germline mutations of BRCA1 and BRCA2 in Korean ovarian cancer patients : finding founder mutations / Int J Gynecol Cancer 25 : 1386 ~ 1391
Easton DF / 2007 / A systematic genetic assessment of 1, 433sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes / Am
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