A BAP1 synonymous mutation results in exon skipping, loss of function and worse patient prognosis
Jennifer Niersch, Silvia Vega-Rubín-de-Celis, Anna Bazarna, Svenja Mergener, Verena Jendrossek, Jens T. Siveke, Samuel Peña‐Llopis
Abstract
mutation (a predictor biomarker for positive responses to immune checkpoint inhibitors) from good (an estimated overall survival of 117 months) to a very bad prognosis (an estimated overall survival of 31 months), emphasizing the importance of scrutinizing synonymous mutations near acceptor splice sites of cancer genes for accurate precision medicine.
Topics & Concepts
BAP1ExonMutationGermline mutationBiologyGeneticsGeneDNA mismatch repairARID1ASomatic cellImmune checkpointEpigeneticsMutation rateCancer researchCancerDNA repairImmunotherapyCancer Genomics and DiagnosticsCancer Immunotherapy and BiomarkersRenal cell carcinoma treatment