Naturally occurring BRCA2 alternate mRNA splicing events in clinically relevant samples

Genetic testing of BRCA1 and BRCA2 genes in cancer patients frequently reveals gene variations with unknown clinical effects.  Some of these variations might affect mRNA splicing, an important step in gene expression.  Aberrant splicing is typically determined by looking for novel mRNA molecules.  We wanted to know if these molecules could also occur at random.  We found there are 24 different splicing events in BRCA2 that appear in some, but not all mRNA samples examined, and may be random events.  This work shows that novel mRNA molecules are not sufficient to conclude that a gene variation is a disease-causing mutation. (By Dr. James D. Fackenthal, http://jmg.bmj.com/content/early/2016/04/08/jmedgenet-2015-103570 )

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