GenomicsErb-b2 Receptor Tyrosine KinasesHumansBreast NeoplasmsGain of Function MutationFemale
High-throughput characterization of 5886 HER2 variants identifies 112 new in cellulo gain-of-function mutations.
Christopher J Giacoletto, Liz J Valente, Lancer Brown, Sara Patterson, Rewatee Gokhale, Susan M Mockus, Wayne W Grody, Hong-Wen Deng, Jerome I Rotter, Martin R Schiller
Published: 202510.1016/j.ygeno.2025.111118
Abstract
ERBB2 (HER2) is a well-studied oncogene with several driver mutations apart from the well-known amplification defect in some breast cancers. We used the GigaAssay to test the functional effect of HER2 missense mutations on its receptor tyrosine kinas…
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