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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2019.1
- 수록면
- 941 - 950 (10page)
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Purpose We investigated the clinical relevance and spectrum of BRCA1/2mutations in Korean ovarian cancer (KoOC) patients. Materials and Methods Two hundred seventy-nine KoOC patients were enrolled from three university hospitals between 2012 and 2017. Their peripheral blood samples were obtained for BRCA1/2 mutation analysis by direct sequencing. Clinicopathological characteristics were retrospectively reviewed, and spectrum analyses of BRCA1/2mutation were assessed by systematic literature review. Results Frequency of BRCA1/2mutations was 16.5% in KoOC patients. BRCA1/2mutations were significantly associated with family history of breast/ovarian cancer (p < 0.001), serous histology (p=0.044), and advanced International Federation of Gynecology and Obstetrics (FIGO) stage (III/IV, p=0.018) but not with early age-of-onset (age < 50, p=0.729). Literature review of BRCA1/2mutations in KoOC patients found 111 (55 distinct) mutations with high proportion of Korean-specific mutations (24/55, 43.6%). Comparing the spectrum of BRCA1/2 mutation between KoOC and Korean breast cancer (KoBC) patients, the ratio of BRCA1-to-BRCA2mutations was different, with BRCA1 (78.4%) being predominant in KoOC and BRCA2 in KoBC (59.2%). The most common mutation also differed between the two (c.3627insA of BRCA1 in KoOC and c.7480C>T of BRCA2 in KoBC). Conclusion The clinical relevance of BRCA1/2 mutations in KoOC patients was confirmed but that of early age-of-onset was not. Possible inconsistency in the ratio of BRCA1-to-BRCA2mutations and the most common mutation between KoOC and KoBC may probably suggest presence of mutation sequence-associated penetrance tendency in hereditary Korean breast and ovarian cancer. These data may provide insights for optimal genetic counseling and prophylactic treatment for at-risk relatives of KoOC patients.
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참고문헌 (19)
참고문헌 신청
Fong PC / 2010 / Poly(ADP)-ribose polymerase inhibition : frequent durable responses in BRCA carrier ovarian cancer correlating with platinum-free interval / J Clin Oncol 28:2512~2519
Audeh MW / 2010 / Oral poly(ADP-ribose)polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer : a proof-of-concept trial / Lancet 376:245~251
Lim MC / 2009 / BRCA1 and BRCA2 germline mutations in Korean ovarian cancer patients / J Cancer Res Clin Oncol 135:1593~1599
Choi MC / 2015 / Germline mutations of BRCA1 and BRCA2 in Korean ovarian cancer patients : finding founder mutations / Int J Gynecol Cancer 25:1386~1391
어경진 / 2017 / Comparison of Clinical Outcomes of BRCA1/2 Pathologic Mutation, Variants of Unknown Significance, or Wild Type Epithelial Ovarian Cancer Patients / Cancer Research and Treatment 49(2):408~415
Audeh MW / 2010 / Oral poly(ADP-ribose)polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer : a proof-of-concept trial / Lancet 376:245~251
Lim MC / 2009 / BRCA1 and BRCA2 germline mutations in Korean ovarian cancer patients / J Cancer Res Clin Oncol 135:1593~1599
Choi MC / 2015 / Germline mutations of BRCA1 and BRCA2 in Korean ovarian cancer patients : finding founder mutations / Int J Gynecol Cancer 25:1386~1391
어경진 / 2017 / Comparison of Clinical Outcomes of BRCA1/2 Pathologic Mutation, Variants of Unknown Significance, or Wild Type Epithelial Ovarian Cancer Patients / Cancer Research and Treatment 49(2):408~415
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