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 Assay

참고문헌 (9)

1. Kim KB, "Three cases of false-positive multiplex ligation-dependent probe amplification of BRCA1", Ann Lab Med, 42, pp.497~499 (2022)
2. Cancer Genome Atlas Research Network, "Integrated genomic analyses of ovarian carcinoma", Nature, 474, pp.609~615 (2011)
3. Konstantinopoulos PA, "Homologous recombination deficiency : exploiting the fundamental vulnerability of ovarian cancer", Cancer Discov, 5, pp.1137~1154 (2015)
4. Giacò L, "A computational framework for comprehensive genomic profiling in solid cancers : the analytical performance of a high-throughput assay for small and copy number variants", Cancers(Basel), 14, pp.6152~ (2022)
5. Minucci A, "Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection : the experience at Gemelli hospital and a literature review", Expert Rev Mol Diagn, 15, pp.1383~1403 (2015)
6. Concolino P, "Advanced tools for BRCA1", 2 mutational screening : comparison between two methods for large genomic rearrangements(LGRs)detection, 2014, pp.52, 1119~1127
7. Minucci A, "BRCA testing in a genomic diagnostics referral center during the COVID-19 pandemic", Mol Biol Rep, 47, pp.4857~4860 (2020)
8. Parsons MT, "Large scale multifactorial likelihood quantitative analysis of BRCA1and BRCA2 variants : An ENIGMA resource to support clinical variant classification", Hum Mutat, 40, pp.1557~1578 (2019)
9. Zuntini R, "BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype", Oncotarget, 8, pp.22640~22648 (2014)

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