지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 917 - 925 (9page)
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초록· 키워드
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Purpose Next-generation sequencing (NGS) allows simultaneous sequencing of multiple cancer susceptibility genes and may represent a more efficient and less expensive approach than sequential testing. We assessed the frequency of germline mutations in individuals with epithelial ovarian cancer (EOC), using multi-gene panels and NGS. Materials and Methods Patients with EOC (n=117) with/without a family history of breast or ovarian cancer were recruited consecutively, from March 2016 to December 2016. Germline DNA was sequenced using 35-gene NGS panel, in order to identify mutations. Upon the detection of a genetic alteration using the panel, results were cross-validated using direct sequencing. Results Thirty-eight patients (32.5%) had 39 pathogenic or likely pathogenic mutations in eight genes, including BRCA1 (n=21), BRCA2 (n=10), BRIP1 (n=1), CHEK2 (n=2), MSH2 (n=1), POLE (n=1), RAD51C (n=2), and RAD51D (n=2). Among 64 patients with a family history of cancer, 27 (42.2%) had 27 pathogenic or likely pathogenic mutations, and six (9.3%) had mutations in genes other than BRCA1/2, such as CHECK2, MSH2, POLE, and RAD51C. Fifty-five patients (47.0%) were identified to carry only variants of uncertain significance. Conclusion Using the multi-gene panel test, we found that, of all patients included in our study, 32.5% had germline cancer-predisposing mutations. NGS was confirmed to substantially improve the detection rates of a wide spectrum of mutations in EOC patients compared with those obtained with the BRCA1/2 testing alone.
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참고문헌 (28)
참고문헌 신청
Chen S / 2007 / Meta-analysis of BRCA1 and BRCA2 penetrance / J Clin Oncol 25:1329~1333
van der Kolk DM / 2010 / Penetrance of breast cancer, ovarian cancer and contralateral breast cancer in BRCA1 and BRCA2 families: high cancer incidence at older age / Breast Cancer Res Treat 124:643~651
Brose MS / 2002 / Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program / J Natl Cancer Inst 94:1365~1372
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
Domchek SM / 2010 / Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality / JAMA 304:967~975
van der Kolk DM / 2010 / Penetrance of breast cancer, ovarian cancer and contralateral breast cancer in BRCA1 and BRCA2 families: high cancer incidence at older age / Breast Cancer Res Treat 124:643~651
Brose MS / 2002 / Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program / J Natl Cancer Inst 94:1365~1372
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
Domchek SM / 2010 / Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality / JAMA 304:967~975
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