Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification

Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification

Introduction: Case–control analyses have shown BARD1 variants to be associated with up to >2-fold increase in risk of breast cancer, and potentially greater risk of triple negative breast cancer. BARD1 is included in several gene sequencing panels currently marketed for the prediction of risk...

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Bibliographic Details
Main Authors: Logan C. Walker, Vanessa Lilian Lattimore, Anders Kvist, Petra Kleiblova, Petra Zemankova, Lucy de Jong, George A. R. Wiggins, Christopher Hakkaart, Simone L. Cree, Raquel Behar, Claude Houdayer, kConFab Investigators, Michael T. Parsons, Martin A. Kennedy, Amanda B. Spurdle, Miguel de la Hoya
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-11-01
Series:Frontiers in Genetics
Subjects:
breast cancer
mRNA splicing
nanopore sequencing
RNAseq analysis
variant classification
ACMG
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.01139/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2019.01139/full

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