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Three Cases of False-positive Multiplex Ligation-dependent Probe Amplification of BRCA1

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참고문헌 (10)

  1. King MC, "Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2", Science, 302, pp.643~646 (2003)
  2. Ewald IP, "Genomic rearrangements in BRCA1 and BRCA2 : a literature review", Genet Mol Biol, 32, pp.437~446 (2009)
  3. 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)
  4. Oscorbin I, "Multiplex ddPCR assay for screening copy number variations in BRCA1 gene", Breast Cancer Res Treat, 178, pp.545~555 (2019)
  5. Han E, "Detection of BRCA1", 2 large genomic rearrangement including BRCA1 promoter-region deletions using next-generation sequencing, 2020, pp.505, 49~54
  6. 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]
  7. 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)
  8. Santos R, "New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy", J Hum Genet, 59, pp.454~464 (2014)
  9. Maistro S, "Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil", BMC Cancer, 16, pp.934~ (2016)
  10. Kim MJ, "Pitfalls of multiple ligation-dependent probe amplifications in detecting DMD exon deletions or duplications", J Mol Diagn, 18, pp.253~259 (2016)

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