Collaborator: Ohio State University Comprehensive Cancer Center
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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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The R659Q and K618A MLH1 variants (of uncertain significance and benign independently) are pathogenic when inherited in cis
MLH1 p.R659Q and p.K618A are independently classified as VUS and VLP These variants, in cis, segregate with disease in a family with a clinical diagnosis of Lynch syndrome Other phenotypic data and Bayesian analysis suggest this haplotype may be pathogenic If this combination of variants is proven to be pathogenic, it represents a new possibility…