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

Authors: Blair R. Conner; Rachid Karam
Conference: ACMG 2018
Date: Thursday, Apr 12, 2018 10:00am - 11:30am

•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