Collaborator: University of Texas Southwestern Medical 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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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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An additional case of Hennekam Lymphagiectasia-Lymphedema Syndrome caused by loss-of-function mutation in ADAMTS3
Abstract Hennekam lymphangiectasia–lymphedema syndrome (HKLLS) is a genetically heterogeneous lymphatic dysplasia with characteristic of facial dysmorphism, neurocognitive impairments, and abnormalities of the pericardium, intestinal tract, and extremities. It is an autosomal recessive condition caused by biallelic mutations in CCBE1 (collagen‐ and calcium‐binding epidermal growth factor domain‐containing protein 1) (HKLLS1; OMIM 235510) or FAT4 (HKLLS2; OMIM 616006). CCBE1 acts via…