Three Cases of False-positive Multiplex Ligation-dependent Probe Amplification of BRCA1
Author:
Affiliation:
1. Department of Laboratory Medicine, Keimyung University School of Medicine, Daegu, Korea
Publisher
Annals of Laboratory Medicine
Subject
Biochemistry (medical),Clinical Biochemistry,General Medicine
Link
http://pdf.medrang.co.kr/ALM/2022/042/ALM042-04-497.pdf
Reference10 articles.
1. Breast and Ovarian Cancer Risks Due to Inherited Mutations in BRCA1 and BRCA2
2. Genomic rearrangements in BRCA1 and BRCA2: a literature review
3. Large BRCA1 and BRCA2 genomic rearrangements in Danish high risk breast-ovarian cancer families
4. Multiplex ddPCR assay for screening copy number variations in BRCA1 gene
5. Detection of BRCA1/2 large genomic rearrangement including BRCA1 promoter-region deletions using next-generation sequencing
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. 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;Annals of Laboratory Medicine;2024-05-31
2. Variants located in intron 6 of SMN1 lead to misdiagnosis in genetic detection and screening for SMA;Heliyon;2024-03
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