Collaborator: Community Health Network
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Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes
Abstract Germline variants in tumor suppressor genes (TSGs) can result in RNA mis-splicing and predisposition to cancer. However, identification of variants that impact splicing remains a challenge, contributing to a substantial proportion of patients with suspected hereditary cancer syndromes remaining without a molecular diagnosis. To address this, we used capture RNA-sequencing (RNA-seq) to generate a…
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RNA testing increases the diagnostic yield in an unresolved cohort of patients with paired Lynch Syndrome DNA testing
Paired tumor-germline DNA testing can provide an informative result regarding a Lynch syndrome (LS) diagnosis for up to 76% of patients. Recent studies show that, when added to germline DNA testing, RNA analysis has the potential to increase diagnostic yield, improve variant classification, and reduce variants of uncertain significance (VUS). We describe the addition of…
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Concurrent DNA and RNA genetic testing identifies more patients with Lynch Syndrome than DNA testing alone
* Concurrent RNA and DNA genetic testing increases the clinical impact of Lynch syndrome testing. * In this pilot study, RNA sequencing contributed to a 14% relative increase in diagnostic yield for Lynch syndrome overall; this increase was even higher among families with 3 or more individuals with Lynch spectrum cancers. * RNA sequencing also…