Session # 137

RNA-based Approach Identifies Pathogenic Tandem Duplications in Hereditary Cancer Genes

•Tandem RT-PCR is an RNA based approach that sequences abnormal exon junctions in duplicated regions of hereditary cancer genes
•Where gDNA assays were limited, Tandem RT-PCR confirmed duplications were intragenic and in tandem, allowing classification as likely pathogenic
•Tandem RT-PCR was also able to rule out a potential CN gain in a Lynch gene that was due to a gene conversion

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