Article
Whole genome sequencing of skull-base chordoma reveals genomic alterations associated with recurrence and chordoma-specific survival.
Nature communications - 3 Feb 2021
Bai Jiwei, Shi Jianxin, Li Chuzhong, Wang Shuai, Zhang Tongwu, Hua Xing, Zhu Bin, Koka Hela, Wu Ho-Hsiang, Song Lei, Wang Difei, Wang Mingyi, Zhou Weiyin, Ballew Bari J, Zhu Bin, Hicks Belynda, Mirabello Lisa, Parry Dilys M, Zhai Yixuan, Li Mingxuan, Du Jiang, Wang Junmei, Zhang Shuheng, Liu Qian, Zhao Peng, Gui Songbai, Goldstein Alisa M, Zhang Yazhuo, Yang Xiaohong R
Abstract excerpt
Chordoma is a rare bone tumor with an unknown etiology and high recurrence rate. Here we conduct whole genome sequencing of 80 skull-base chordomas and identify PBRM1, a SWI/SNF (SWItch/Sucrose Non-Fermentable) complex subunit gene, as a significantly mutated driver gene. Genomic alterations in PBRM1 (12.5%) and homozygous deletions of the CDKN2A/2B locus are the most prevalent events. The combination of PBRM1...
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