The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23—a likely pathogenic variant with reduced penetrance?

Rare sequence variants in the non-coding part of the BRCA genes are often reported as variants of uncertain significance (VUS), which leave patients and doctors in a challenging position. The aim of this study was to determine the pathogenicity of the BRCA1 c.5407-25T>A variant found in 20 famili...

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發表在:Eur J Hum Genet
Main Authors: Høberg-Vetti, Hildegunn, Ognedal, Elisabet, Buisson, Adrien, Vamre, Tone Bøe Aaman, Ariansen, Sarah, Hoover, Jacqueline M., Eide, Geir Egil, Houge, Gunnar, Fiskerstrand, Torunn, Haukanes, Bjørn Ivar, Bjorvatn, Cathrine, Knappskog, Per Morten
格式: Artigo
語言:Inglês
出版: Springer International Publishing 2020
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Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC7382492/
https://ncbi.nlm.nih.gov/pubmed/32203205
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-0612-1
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