논문KCI 등재
Comparison of Targeted Next-Generation and Sanger Sequencing for the BRCA1 and BRCA2 Mutation Screening
대한진단검사의학회 (Korean Society For Laboratory Medicine)|2016.03|Annals of Laboratory Medicine|제36권 제2호|pp. 197-201
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참고문헌 (10)
- Banerjee S, "Making the best of PARP inhibitors in ovarian cancer", Nat Rev Clin Oncol, 7, pp.508~519 (2010)
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- Friedman LS, "Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families", Nat Genet, 8, pp.399~404 (1994)
- Meindl A, "Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population", Int J Cancer, 97, pp.472~480 (2002)
- Vehmanen P, "Low proportion of BRCA1 and BRCA2 mutations in Finnish breast cancer families: evidence for additional susceptibility genes", Hum Mol Genet, 6, pp.2309~2315 (1997)
- Rothberg JM, "An integrated semiconductor device enabling non-optical genome sequencing", Nature, 475, pp.348~352 (2011)
- Bragg LM, "Shining a light on dark sequencing: characterising errors in Ion Torrent PGM data", PLoS Comput Biol, 9, pp.e1003031~ (2013)
- Anczuków O, "BRCA2 deep intronic mutation causing activation of a cryptic exon: opening toward a new preventive therapeutic strategy", Clin Cancer Res, 18, pp.4903~4909 (2012)
- Sikkema-Raddatz B, "Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics", Hum Mutat, 34, pp.1035~1042 (2013)
관련 논문AI추천
Evaluation of a Targeted Next-generation Sequencing Assay for BRCA Mutation Screening in Clinical Samples김광중, 김만진, 김시은, 박성섭, 성문우, 송병주, 오은설, 이근숙, 이창선, 임지은, 조성임대한진단검사의학회 · Laboratory Medicine Online2021 · 제11권 제4호Comparison of Ion Personal Genome Machine Platforms for the Detection of Variants in BRCA1 and BRCA2박경운, 이기찬, 이민섭, 황상미대한암학회 · Cancer Research and Treatment2018 · 제50권 제1호Clinical Validity of Next-Generation Sequencing Multi-Gene Panel Testing for Detecting Pathogenic Variants in Patients With Hereditary Breast-Ovarian Cancer Syndrome김명신, Eunhee Han, Gun Dong Lee, Hyojin Chae, Jaeeun Yoo, Jee Hae Kim, Seung Nam Lee, Yonggoo Kim대한진단검사의학회 · Annals of Laboratory Medicine2020 · 제40권 제2호Identification of a False-positive Multiplex Ligationdependent Probe Amplification Result in BRCA1 Using a Copy Number Variation Algorithm Under Development for a Commercial Next-Generation Sequencing-based Homologous Recombination Deficiency AssayBrisighelli Francesca, Concolino Paola, De Bonis Maria, De Paolis Elisa, Duranti Simona, Giacò Luciano, Maneri Giulia, Minucci Angelo, Nero Camilla, Panfili Arianna, Piane Maria, Preziosi Alessia, Rinelli Martina, Scambia Giovanni, Trozzi Rita대한진단검사의학회 · Annals of Laboratory Medicine2024 · 제44권 제6호Three Cases of False-positive Multiplex Ligation-dependent Probe Amplification of BRCA1김경보, 김도훈, 류남희, 하정숙, Park Sunggyun대한진단검사의학회 · Annals of Laboratory Medicine2022 · 제42권 제4호From Genetic Testing to Treatment and Prevention of BRCA-Related Breast CancerChang-Seok Ki대한진단검사의학회 · Annals of Laboratory Medicine2020 · 제40권 제2호
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