Multiplatform molecular profiling identifies potentially targetable biomarkers in XXXX of the breast.

@entity1 @entity675 @entity4634 @entity0 @entity242 @entity7 @entity5 @entity470 @entity984 @entity996 @entity876 @entity877 @entity3 @entity38685 @entity4725 @entity72367 @entity10160 @entity8032
@entity5 is a rare @entity0 with @entity8032 and with limited effective treatment options for recurrent and metastatic cases. Recent clinical trials indicated a potential for anti-angiogenic, anti- @entity470 and immunotherapeutic approaches for @entity1 with @entity242 , which led us to investigate these and other targetable pathways in @entity0 . Thirty-six @entity5 (including 8 @entity3 with two cases having matched primary and @entity3 ) were profiled using gene sequencing, gene copy number analysis, whole genome expression, and protein expression. Whole genome expression analysis demonstrated consistent over-expression of genes involved in angiogenesis including @entity7 , @entity877 , @entity4725 , @entity675 , and @entity38685 . @entity470 protein overexpression was observed in 26/27 (96%) of cases with amplification of the @entity470 gene in 8/24 (33%) cases. Two @entity470 mutations were identified including EGFRvIII and a presumed pathogenic @entity72367 mutation, respectively. The most common pathogenic mutations included @entity876 (50%) and @entity10160 (15%). Cases with matched primary and @entity3 harbored identical mutations in both sites ( @entity10160 / @entity984 and @entity996 gene mutations, respectively). Tumor expression of @entity4634 immunoregulatory protein was observed in 3/22 (14%) of cases. Overexpression of molecular biomarkers of increased angiogenesis, @entity470 and immune checkpoints provides novel targeted therapy options in @entity5 of the breast.
