Competitive PCR-High Resolution Melting Analysis (C-PCR-HRMA) for large genomic rearrangements (LGRs) detection: A new approach to assess quantitative status of BRCA1 gene in a reference laboratory.

Clinica Chimica Acta(2017)

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摘要
•Pathogenic variants in BRCA genes are associated to an increased risk for hereditary breast and ovarian cancers.•BRCA genes are prone to LGRs with prevalence varying widely among different populations.•HRMA is proven to be a simple, relatively rapid and low-cost tool for scanning and genotyping in diagnostics.
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关键词
CNV,LGRs,HRMA,ALB,PV,BRCA,HBOC,MLPA,Tm,MPS,HGSOC,Ta,CNV−,CNV+,SD
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