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Three Cases of False-positive Multiplex Ligation-dependent Probe Amplification of BRCA1
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참고문헌 (10)
- King MC, "Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2", Science, 302, pp.643~646 (2003)
- Ewald IP, "Genomic rearrangements in BRCA1 and BRCA2 : a literature review", Genet Mol Biol, 32, pp.437~446 (2009)
- Hansen Tv, "Large BRCA1 and BRCA2 genomic rearrangements in Danish high risk breast-ovarian cancer families", Breast Cancer Res Treat, 115, pp.315~323 (2009)
- Oscorbin I, "Multiplex ddPCR assay for screening copy number variations in BRCA1 gene", Breast Cancer Res Treat, 178, pp.545~555 (2019)
- Han E, "Detection of BRCA1", 2 large genomic rearrangement including BRCA1 promoter-region deletions using next-generation sequencing, 2020, pp.505, 49~54
- Jaeeun Yoo, "Clinical Validity of Next-Generation Sequencing Multi-Gene Panel Testing for Detecting Pathogenic Variants in Patients With Hereditary Breast-Ovarian Cancer Syndrome", Annals of Laboratory Medicine, 40(2), pp.148~154 (2020), 대한진단검사의학회[DOI]
- Varga RE, "MLPA-based evidence for sequence gain : pitfalls in confirmation and necessity for exclusion of false positives", Anal Biochem, 421, pp.799~801 (2012)
- Santos R, "New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy", J Hum Genet, 59, pp.454~464 (2014)
- Maistro S, "Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil", BMC Cancer, 16, pp.934~ (2016)
- Kim MJ, "Pitfalls of multiple ligation-dependent probe amplifications in detecting DMD exon deletions or duplications", J Mol Diagn, 18, pp.253~259 (2016)
관련 논문AI추천
Identification 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 제6호Comparison of Targeted Next-Generation and Sanger Sequencing for the BRCA1 and BRCA2 Mutation Screening김명신, 김용구, 박준홍, 장우리, 채효진, Hyun Young Chi대한진단검사의학회 · Annals of Laboratory Medicine2016 · 제36권 제2호Clinical 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 제2호One Case of a BRCA1 Germ Line Mutation Ovarian Carcinoma Patient Based on Abnormal Immunohistochemistry Finding김민규, 김현주, 박정민, 이은희, 이현욱대한병리학회 · Journal of Pathology and Translational Medicine2014 · 제48권 제5호A Case of Next-generation Sequencing Gene Testing: Points to be Considered in Testing and Reporting김종원, Kim Na-Kyoung대한진단검사의학회 · Annals of Laboratory Medicine2022 · 제42권 제2호Evaluation of Her-2/neu in Breast Cancer: Comparison of Immunohistochemistry and Polymerase Chain ReactionHo Jong Jeon, Mi Ja Lee대한암학회 · Cancer Research and Treatment2003 · 제35권 제2호
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