Collaborator: University of California, Irvine
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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…
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Comprehensive Paired Tumor/Germline Testing for Lynch Syndrome: Bringing Resolution to the Diagnostic Process
ABSTRACT Purpose The current diagnostic testing algorithm for Lynch syndrome (LS) is complex and often involves multiple follow-up germline and somatic tests. We aimed to describe the results of paired tumor/germline testing performed on a large cohort of patients with colorectal cancer (CRC) and endometrial cancer (EC) to better determine the utility of this novel…
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Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes
Abstract Primary mitochondrial complex I deficiency is the most common defect of the mitochondrial respiratory chain. It is caused by defects in structural components and assembly factors of this large protein complex. Mutations in the assembly factor NDUFAF5 are rare, with only five families reported to date. This study provides clinical, biochemical, molecular and functional data for four unrelated…
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Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort
Abstract Purpose Genetic testing of individuals often results in identification of genomic variants of unknown significance (VUS). Multiple lines of evidence are used to help determine the clinical significance of these variants. Methods We analyzed ~138,000 individuals tested by multigene panel testing (MGPT). We used logistic regression to predict carrier status based on personal and…