RNA Panel Sequencing Is an Effective Tool to Help Classify Splice Variants for Clinical Oncogenetic Diagnosis

Figure 4

Study of the MSH2 c.(1076+1_1077-1)_(1276+1_1277-1)dup variant. (a) Pedigree: filled symbols indicate patients affected with cancer. Open symbols indicated relatives unaffected with cancer. The type of cancer and age at presentation are given under the symbol. MSI: tumoral microsatellite instability; M2/M6-: tumoral extinction of MSH2 and MSH6 protein expression (seen by immunohistochemistry). (b) Panel sequencing on blood sample RNA: peripheral blood of the patient with the MSH2 exon 7 duplication was collected in PAXgene blood RNA tubes. Targeted panel sequencing was performed using KAPA kits and probes on the Illumina device. Sequences were visualized and manually analyzed using Integrated Genomics Viewer (Broad Institute) software.

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