Whole genome sequencing of skull-base chordoma reveals genomic alterations associated with recurrence and chordoma-specific survival
oleh: Jiwei Bai, Jianxin Shi, Chuzhong Li, Shuai Wang, Tongwu Zhang, Xing Hua, Bin Zhu, Hela Koka, Ho-Hsiang Wu, Lei Song, Difei Wang, Mingyi Wang, Weiyin Zhou, Bari J. Ballew, Bin Zhu, Belynda Hicks, Lisa Mirabello, Dilys M. Parry, Yixuan Zhai, Mingxuan Li, Jiang Du, Junmei Wang, Shuheng Zhang, Qian Liu, Peng Zhao, Songbai Gui, Alisa M. Goldstein, Yazhuo Zhang, Xiaohong R. Yang
| Format: | Article |
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| Diterbitkan: | Nature Portfolio 2021-02-01 |
Deskripsi
Skull base chordomas are treated with surgery and chemotherapy but often recur due to incomplete resection, understanding the molecular underpinnings of the tumours may provide additional therapeutic strategies. Here, the authors carry out whole genome sequencing of 80 skull base chordoma tumours and identify the SWI/SNF component—PBRM1—as a frequently mutated gene.