Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation

Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation

Functional assays that assess mRNA splicing can be used in interpretation of the clinical significance of sequence variants, including the Lynch syndrome-associated mismatch repair (MMR) genes. The purpose of this study was to investigate the contribution of splicing assay data to the classification...

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Main Authors: Bryony A. Thompson, Rhiannon Walters, Michael T. Parsons, Troy Dumenil, Mark Drost, Yvonne Tiersma, Noralane M. Lindor, Sean V. Tavtigian, Niels de Wind, Amanda B. Spurdle, the InSiGHT Variant Interpretation Committee, Fahd Al-Mulla, Daniel Buchanan, Susan Farrington, Ian Frayling, Maurizio Genuardi, Elke Holinski-Feder, Maija R. J. Kohonen-Corish, Andreas Laner, Alexandra Martins, Finlay Macrae, Pål Møller, Monika Morak, Elisabet Ognedal, John-Paul Plazzer, Lene Juel Rasmussen, Carli Tops
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-07-01
Series:Frontiers in Genetics
Subjects:
mismatch repair genes
splicing aberrations
variant interpretation and classification
variant type
Lynch syndrome
mRNA splicing
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.00798/full

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https://www.frontiersin.org/article/10.3389/fgene.2020.00798/full

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