Article
Interpretation of BRCA2 Splicing Variants: A Case Series of Challenging Variant Interpretations and the Importance of Functional RNA Analysis.
Familial cancer - 1 Jan 2022
Nix Paola, Mundt Erin, Coffee Bradford, Goossen Elizabeth, Warf Bryan M, Brown Krystal, Bowles Karla, Roa Benjamin
Abstract excerpt
A substantial proportion of pathogenic variants associated with an increased risk of hereditary cancer are sequence variants affecting RNA splicing. The classification of these variants can be complex when both non-functional and functional transcripts are produced from the variant allele. We present four BRCA2 splice site variants with complex variant interpretations (BRCA2 c.68-3T>G, c.68-2A>G, c.425G>T,...
Topics
- BRCA1 Protein
- BRCA2 Protein
- Breast Neoplasms
- Female
- Genes, BRCA2
- Humans
- Mutation
- RNA Splice Sites
- RNA Splicing
- RNA, Messenger