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Key genetic mutations could be new hope for adrenocortical tumor patients
Date:4/4/2014

phorylation.

Yanan Cao, Endocrinologist from Rui-Jin Hospital, said,"ACTs and Cushing's syndrome belong to one important kind of diseases in endocrine metabolic disorders. Our study revealed several key mutated genes closely associated with adrenocortical tumors. Furthermore, we systematically analyzed the function of L205R mutation by structure and molecular biology technologies, laying a solid foundation for developing new treatment strategies for Adrenal Cushing's syndrome."

Minghui He, Project Manager of BGI, said, "Using high-throughput sequencing and bioinformatics technologies, we characterized mutation landscape of adrenocortical tumor, and found L205R mutation in PRKACA gene was closely associated with adrenocortical tumors. These findings provide new insights into the clinical diagnosis and treatment of adrenocortical tumors."


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Contact: Jia Liu
liujia@genomics.cn
BGI Shenzhen
Source:Eurekalert

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