Collaborator: Rutgers Cancer Institute of New Jersey
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Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer
Abstract Importance Performing DNA genetic testing (DGT) for hereditary cancer genes is now a well-accepted clinical practice; however, the interpretation of DNA variation remains a challenge for laboratories and clinicians. Adding RNA genetic testing (RGT) enhances DGT by clarifying the clinical actionability of hereditary cancer gene variants, thus improving clinicians’ ability to accurately apply strategies…
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RNA genetic testing in hereditary cancer improves variant classification and patient management
Top Rated Poster RNA genetic testing (RGT) as a supplement to DNA genetic testing (DGT) improves variant classification in hereditary cancer predisposition testing. RGT is expected to affect medical management in at least 1 in 50 patients who undergo DGT. Specifically, in the case of splicing variants identified in clinically actionable genes, the reclassification of…
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Quantitative Analysis of BRCA1 and BRCA2 Germline Splicing Variants Using a Novel RNA-Massively Parallel Sequencing Assay
Abstract Clinical genetic testing for hereditary breast and ovarian cancer (HBOC) is becoming widespread. However, the interpretation of variants of unknown significance (VUS) in HBOC genes, such as the clinically actionable genes BRCA1 and BRCA2, remain a challenge. Among the variants that are frequently classified as VUS are those with unclear effects on splicing. In…