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Clin Cancer Res. 2012 Sep 15;18(18):4865-7. doi: 10.1158/1078-0432.CCR-12-2090. Epub 2012 Aug 6.

Hidden dangers: a cryptic exon disrupts BRCA2 mRNA.

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  • 1Center for Clinical Cancer Genetics and Global Health, The University of Chicago Medical Center, Chicago, IL 60637, USA.

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.

©2012 AACR.

PMID:
22869870
[PubMed - indexed for MEDLINE]
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