The driver landscape of sporadic chordoma.
The driver landscape of sporadic chordoma.
复制标题
DOI：
10.1038/s41467-017-01026-0
复制
发表时间：
2017-10-12
影响因子：
16.6
通讯作者：
Campbell PJ
中科院分区：
文献类型：
--
作者：
Tarpey PS;Behjati S;Young MD;Martincorena I;Alexandrov LB;Farndon SJ;Guzzo C;Hardy C;Latimer C;Butler AP;Teague JW;Shlien A;Futreal PA;Shah S;Bashashati A;Jamshidi F;Nielsen TO;Huntsman D;Baumhoer D;Brandner S;Wunder J;Dickson B;Cogswell P;Sommer J;Phillips JJ;Amary MF;Tirabosco R;Pillay N;Yip S;Stratton MR;Flanagan AM;Campbell PJ
Chordoma is a malignant, often incurable bone tumour showing notochordal differentiation. Here, we defined the somatic driver landscape of 104 cases of sporadic chordoma. We reveal somatic duplications of the notochordal transcription factor brachyury (T) in up to 27% of cases. These variants recapitulate the rearrangement architecture of the pathogenic germline duplications of T that underlie familial chordoma. In addition, we find potentially clinically actionable PI3K signalling mutations in 16% of cases. Intriguingly, one of the most frequently altered genes, mutated exclusively by inactivating mutation, was LYST (10%), which may represent a novel cancer gene in chordoma. Chordoma is a rare often incurable malignant bone tumour. Here, the authors investigate driver mutations of sporadic chordoma in 104 cases, revealing duplications in notochordal transcription factor brachyury (T), PI3K signalling mutations, and mutations in LYST, a potential novel cancer gene in chordoma.
登录
查看更多内容
由脊索驱动的 HRASV12 表达启动的脊索瘤斑马鱼模型。
影响因子：
4.3
作者：
Burger A;Vasilyev A;Tomar R;Selig MK;Nielsen GP;Peterson RT;Drummond IA;Haber DA
通讯作者：
Haber DA
影响因子：
7.3
作者：
Presneau, Nadege;Shalaby, Asem;Flanagan, Adrienne M.
通讯作者：
Flanagan, Adrienne M.
影响因子：
64.8
作者：
Nik-Zainal S;Davies H;Staaf J;Ramakrishna M;Glodzik D;Zou X;Martincorena I;Alexandrov LB;Martin S;Wedge DC;Van Loo P;Ju YS;Smid M;Brinkman AB;Morganella S;Aure MR;Lingjærde OC;Langerød A;Ringnér M;Ahn SM;Boyault S;Brock JE;Broeks A;Butler A;Desmedt C;Dirix L;Dronov S;Fatima A;Foekens JA;Gerstung M;Hooijer GK;Jang SJ;Jones DR;Kim HY;King TA;Krishnamurthy S;Lee HJ;Lee JY;Li Y;McLaren S;Menzies A;Mustonen V;O'Meara S;Pauporté I;Pivot X;Purdie CA;Raine K;Ramakrishnan K;Rodríguez-González FG;Romieu G;Sieuwerts AM;Simpson PT;Shepherd R;Stebbings L;Stefansson OA;Teague J;Tommasi S;Treilleux I;Van den Eynden GG;Vermeulen P;Vincent-Salomon A;Yates L;Caldas C;van't Veer L;Tutt A;Knappskog S;Tan BK;Jonkers J;Borg Å;Ueno NT;Sotiriou C;Viari A;Futreal PA;Campbell PJ;Span PN;Van Laere S;Lakhani SR;Eyfjord JE;Thompson AM;Birney E;Stunnenberg HG;van de Vijver MJ;Martens JW;Børresen-Dale AL;Richardson AL;Kong G;Thomas G;Stratton MR
通讯作者：
Stratton MR
影响因子：
5.3
作者：
Kelley MJ;Shi J;Ballew B;Hyland PL;Li WQ;Rotunno M;Alcorta DA;Liebsch NJ;Mitchell J;Bass S;Roberson D;Boland J;Cullen M;He J;Burdette L;Yeager M;Chanock SJ;Parry DM;Goldstein AM;Yang XR
通讯作者：
Yang XR
影响因子：
4.1
作者：
Davies JM;Robinson AE;Cowdrey C;Mummaneni PV;Ducker GS;Shokat KM;Bollen A;Hann B;Phillips JJ
通讯作者：
Phillips JJ