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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
- 2021.10
- 수록면
- 283 - 289 (7page)
- DOI
- 10.47429/lmo.2021.11.4.283
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초록· 키워드
오류제보하기
Background: While several factors contribute to breast cancer pathogenesis, hereditary breast cancer results from a genetic predisposition. Genes associated with hereditary breast cancer may be divided into high- and low-penetrance genes depending on their risk rates. BRCA1 and BRCA2 are typical high-penetrance genes that increase the risk of developing breast and ovarian cancers upon undergoing mutations. This study aimed to evaluate the clinical performance of BRCAaccuTestTM (NGeneBio, Korea). Methods: BRCAaccuTestTM is a reagent used to produce libraries for analyzing BRCA1/2 genes using next-generation sequencing (NGS), which analyzes blood-derived genomic DNA. Libraries with adapters and barcodes compatible with the Illumina platform were produced. The clinical per formance of NGS-based BRCAaccuTestTM in identifying BRCA1/2 mutations was compared with that of the traditional Sanger sequencing method. Both NGS and Sanger sequencing were performed in a single laboratory using archival DNA from blood samples of 212 patients with breast cancer. Results: All target regions amplified were successfully sequenced to obtain a minimum coverage of 20, demonstrating 100% concordance with the pathogenic single-nucleotide variations and small insertions-deletions previously identified by Sanger sequencing. Conclusions: This study demonstrates the feasibility of using BRCAaccuTestTM to detect the BRCA1/2 mutations with high accuracy.
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등록된 정보가 없습니다.
참고문헌 (22)
참고문헌 신청
Heymach J / 2018 / Clinical Cancer Advances 2018 : Annual report on progress against cancer from the American Society of Clinical Oncology / J Clin Oncol 36:1020~1044
정규원 / 2018 / Prediction of Cancer Incidence and Mortality in Korea, 2018 / Cancer Research and Treatment 50(2):317~323
정규원 / 2018 / Cancer Statistics in Korea: Incidence, Mortality, Survival, and Prevalence in 2015 / Cancer Research and Treatment 50(2):303~316
박형석 / 2017 / Next-generation sequencing of BRCA1/2 in breast cancer patients: potential effects on clinical decision-making using rapid, high-accuracy genetic results / Annals of Surgical Treatment and Research 92(5):331~339
Janavičius R / 2010 / Founder BRCA1/2 mutations in the Europe : implications for hereditary breast-ovarian cancer prevention and control / EPMA J 1:397~412
정규원 / 2018 / Prediction of Cancer Incidence and Mortality in Korea, 2018 / Cancer Research and Treatment 50(2):317~323
정규원 / 2018 / Cancer Statistics in Korea: Incidence, Mortality, Survival, and Prevalence in 2015 / Cancer Research and Treatment 50(2):303~316
박형석 / 2017 / Next-generation sequencing of BRCA1/2 in breast cancer patients: potential effects on clinical decision-making using rapid, high-accuracy genetic results / Annals of Surgical Treatment and Research 92(5):331~339
Janavičius R / 2010 / Founder BRCA1/2 mutations in the Europe : implications for hereditary breast-ovarian cancer prevention and control / EPMA J 1:397~412
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Clinicopathological characteristics of BRCA-associated breast cancer in Asian patients
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Clinically Significant Unclassified Variants in BRCA1 and BRCA2 Genes among Korean Breast Cancer Patients
Cancer Research and Treatment
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Mutation Spectra of BRCA Genes in Iranian Women with Early Onset Breast Cancer - 15 Years Experience
Asian Pacific journal of cancer prevention : APJCP
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[Breast] Characteristics of Germline BRCA1 and BRCA2 Mutation Carriers and Non-Carriers among High-Risk Breast Cancer Patients
대한외과학회 학술대회 초록집
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Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients
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Expression of DNA Damage Response Proteins and Associations with Clinicopathologic Characteristics in Chinese Familial Breast Cancer Patients with BRCA1/2 Mutations
Journal of Breast Cancer
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