When is a mutation not a mutation: the case of the c.594-2A & gt;C splice variant in a woman harbouring another BRCA1 mutation in trans

In this report we have identified a woman who is a bi-allelic mutation carrier of BRCA1 and provide an explanation as to why this patient has a phenotype very similar to that of any mono-allelic mutation carrier. The splice variant identified in this patient appears to be associated with the up-regulation of a BRCA1 splice variant that rescues the lethality of being a double mutant. < /p > < p class= " a-plus-plus " > The consequences of the findings of this report may have implications for mutation interpretation and that could serve as a model for not only BRCA1 but also for other autosomal dominant disorders that are considered as being embryonically lethal. < /p >
Source: Hereditary Cancer in Clinical Practice - Category: Cancer & Oncology Source Type: research