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Comment
. 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

James D Fackenthal  1 , Younghee Lee, Olufunmilayo I Olopade
Affiliations
Comment

Hidden dangers: a cryptic exon disrupts BRCA2 mRNA

James D Fackenthal et al. Clin Cancer Res. .

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.

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Conflict of interest statement

The authors have no conflict of interests.

Figures

Figure 1
Figure 1
1A. A sequence within intron 12 of BRCA2 is somewhat exon-like, but does not have a sufficiently strong 5’ exon donor site to be efficiently included as a high frequency exon among BRCA2 splice variatnts. 1B. A T>G transversion generates a much stronger 5’ exon donor site consensus sequence, resulting in high-frequency inclusion of the cryptic exon.
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References

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