MAX Mutations in Endometrial Cancer: Clinicopathologic Associations and Recurrent MAX p.His28Arg Functional Characterization,Journal of the National Cancer Institute

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MAX Mutations in Endometrial Cancer: Clinicopathologic Associations and Recurrent MAX p.His28Arg Functional Characterization
Journal of the National Cancer Institute ( IF 10.3 ) Pub Date : 2017-11-15 , DOI: 10.1093/jnci/djx238
Christopher J Walker _{1,

2} , Craig M Rush _{1,

2} , Paola Dama _{1,

2} , Matthew J O’Hern _{1,

2} , Casey M Cosgrove _{1,

2} , Jessica L Gillespie _{1,

2} , Roman A Zingarelli _{1,

2} , Blair Smith _{1,

2} , Maggie E Stein _{1,

2} , David G Mutch ₃ , Reena Shakya ₁ , Chia-Wen Chang ₄ , Karuppaiyah Selvendiran _{1,

2} , Jonathan W Song _{1,

5} , David E Cohn _{1,

2} , Paul J Goodfellow _{1,

2}

Affiliation

Genomic studies have revealed that multiple genes are mutated at varying frequency in endometrial cancer (EC); however, the relevance of many of these mutations is poorly understood. An EC-specific recurrent mutation in the MAX transcription factor p.His28Arg was recently discovered. We sought to assess the functional consequences of this hotspot mutation and determine its association with cancer-relevant phenotypes.

中文翻译：

子宫内膜癌中的MAX突变：临床病理学关联和复发性MAX p.His28Arg功能表征

基因组学研究表明，子宫内膜癌（EC）中多个基因突变的频率不同。然而，人们对许多这些突变的相关性了解甚少。最近发现了MAX转录因子p.His28Arg中的EC特异性复发突变。我们试图评估此热点突变的功能后果，并确定其与癌症相关表型的关联。

更新日期：2018-05-14

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