Novel Mutations in XXXX of the Breast: Possible Therapeutic Targets.

@entity20192 @entity0 @entity71701 @entity5 @entity16756 @entity5426 @entity1149 @entity71702 @entity27532 @entity319 @entity7167 @entity71703 @entity669 @entity8498 @entity10160 @entity3270
UNASSIGNED: Primary @entity3270 of the breast is a rare variant, accounting for only 2% to 5% of diagnosed @entity0 , and may have relatively aggressive behavior. Mutational profiling of invasive @entity0 has yielded potential targets for directed @entity5 therapy, yet most studies have not included @entity3270 . In a tissue microarray screen, we found a 2.4% prevalence (9/372) of neuroendocrine @entity0 , including several with lobular morphology. We then screened primary or metastatic @entity0 (excluding papillary and mucinous) for mutations in common @entity5 genes using polymerase chain reaction-mass spectroscopy (643 hotspot mutations across 53 genes), or semiconductor-based next-generation sequencing analysis (37 genes). Mutations were identified in 5 of 15 @entity5 , including 3 with @entity10160 exon 9 @entity20192 mutations, 2 of which also harbored point mutations in FGFR family members ( @entity7167 @entity71701 , @entity16756 @entity71702 ). Single mutations were found in each of @entity319 ( @entity71703 ) and @entity8498 ( @entity27532 ). @entity10160 mutations are common in other types of @entity0 . However, FGFR and RAS family mutations are exceedingly rare in the @entity0 literature. Likewise, activating mutations in the receptor @entity669 kinase @entity319 ( @entity319 ) have been reported in @entity5426 and @entity1149 ; the @entity319 @entity71703 mutation is reported to be sensitive to @entity319 kinase inhibitors, and fibroblast growth factor receptor inhibitors are in trials. Our findings demonstrate the utility of broad-based genotyping in the study of rare @entity5 such as @entity0 .
