Article
Somatic SF3B1 hotspot mutation in prolactinomas.
Nature communications - 19 May 2020
Li Chuzhong, Xie Weiyan, Rosenblum Jared S, Zhou Jianyu, Guo Jing, Miao Yazhou, Shen Yutao, Wang Hongyun, Gong Lei, Li Mingxuan, Zhao Sida, Cheng Sen, Zhu Haibo, Jiang Tao, Ling Shiying, Wang Fei, Zhang Hongwei, Zhang Mingshan, Qu Yanming, Zhang Qi, Li Guilin, Wang Junmei, Ma Jun, Zhuang Zhengping, Zhang Yazhuo
Abstract excerpt
The genetic basis and corresponding clinical relevance of prolactinomas remain poorly understood. Here, we perform whole genome sequencing (WGS) on 21 patients with prolactinomas to detect somatic mutations and then validate the mutations with digital polymerase chain reaction (PCR) analysis of tissue samples from 227 prolactinomas. We identify the same hotspot somatic mutation in splicing factor 3 subunit B1...
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