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Fig. 3 | BMC Cancer

Fig. 3

From: Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples

Fig. 3

Example of NGS-based CNV detection in BRCA1 and BRCA2. Illustration of CNV detection by panelcn.MOPS as performed for patient 21 using a blood (a) and a FFPE tumor sample (b). Regions (x-axis) are labelled with the individual BRCA-specific targets. The log2 values of the normalized read counts (RCs) of each sample are symbolized by black dots. InDels are highlighted. a Heterozygous deletion of exons 12 to 18 in BRCA1 in the blood sample (pathogenic germline variant). b LOH of a complete BRCA1 allele in the tumor of the same patient. The allele with detected loss of exons 12–18 remains present in the tumor. This is represented by the lower log2 ratios of corresponding BRCA1 targets. c The duplication of BCRA2 exons E4-E13 of one BCRA2 allele in the blood of patient 24. No tumor tissue was available

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