Hidden dangers: a cryptic exon disrupts BRCA2 mRNA.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 22869870.
- Also identified by DOI 10.1158/1078-0432.CCR-12-2090 and PMC identifier 4536549.
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Abstract
The first mutation that disrupts BRCA2 mRNA by including a novel, cryptic exon is reported in this issue. The mutation lies deep within an intron and would not have been detected by conventional screening methods. In the future, more mutations may be discovered by direct mRNA analysis.
Medical subject headings
- Alternative Splicing
- Exons
- Genes, BRCA2
- Introns
- Mutation