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

  • Authors: Blair R. Conner; Rachid Karam
  • Conference: American College of Medical Genetics and Genomics (ACMG)
  • Date: Thursday, Apr 12, 2018 10:00am - 11:30am

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