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Genetic landscape of esophageal squamous cell carcinoma.
Gao, Yi-Bo; Chen, Zhao-Li; Li, Jia-Gen; Hu, Xue-Da; Shi, Xue-Jiao; Sun, Zeng-Miao; Zhang, Fan; Zhao, Zi-Ran; Li, Zi-Tong; Liu, Zi-Yuan; Zhao, Yu-Da; Sun, Jian; Zhou, Cheng-Cheng; Yao, Ran; Wang, Su-Ya; Wang, Pan; Sun, Nan; Zhang, Bai-Hua; Dong, Jing-Si; Yu, Yue; Luo, Mei; Feng, Xiao-Li; Shi, Su-Sheng; Zhou, Fang; Tan, Feng-Wei; Qiu, Bin; Li, Ning; Shao, Kang; Zhang, Li-Jian; Zhang, Lan-Jun; Xue, Qi; Gao, Shu-Geng; He, Jie.
Afiliación
  • Gao YB; Department of Thoracic Surgery, Cancer Institute and Hospital Chinese Academy of Medical Sciences, Beijing, China.
  • Chen ZL; Department of Thoracic Surgery, Cancer Institute and Hospital Chinese Academy of Medical Sciences, Beijing, China.
  • Li JG; Department of Thoracic Surgery, Cancer Institute and Hospital Chinese Academy of Medical Sciences, Beijing, China.
  • Hu XD; Department of Thoracic Surgery, Cancer Institute and Hospital Chinese Academy of Medical Sciences, Beijing, China.
  • Shi XJ; Department of Thoracic Surgery, Cancer Institute and Hospital Chinese Academy of Medical Sciences, Beijing, China.
  • Sun ZM; Department of Thoracic Surgery, Cancer Institute and Hospital Chinese Academy of Medical Sciences, Beijing, China.
  • Zhang F; Department of Thoracic Surgery, Cancer Institute and Hospital Chinese Academy of Medical Sciences, Beijing, China.
  • Zhao ZR; Department of Clinical Medicine, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Li ZT; Department of Clinical Medicine, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Liu ZY; Department of Thoracic Surgery, Cancer Institute and Hospital Chinese Academy of Medical Sciences, Beijing, China.
  • Zhao YD; Department of Thoracic Surgery, Cancer Institute and Hospital Chinese Academy of Medical Sciences, Beijing, China.
  • Sun J; Department of Thoracic Surgery, Cancer Institute and Hospital Chinese Academy of Medical Sciences, Beijing, China.
  • Zhou CC; Department of Thoracic Surgery, Cancer Institute and Hospital Chinese Academy of Medical Sciences, Beijing, China.
  • Yao R; Department of Thoracic Surgery, Cancer Institute and Hospital Chinese Academy of Medical Sciences, Beijing, China.
  • Wang SY; Department of Thoracic Surgery, Cancer Institute and Hospital Chinese Academy of Medical Sciences, Beijing, China.
  • Wang P; Department of Clinical Medicine, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Sun N; Department of Thoracic Surgery, Cancer Institute and Hospital Chinese Academy of Medical Sciences, Beijing, China.
  • Zhang BH; Department of Thoracic Surgery, Cancer Institute and Hospital Chinese Academy of Medical Sciences, Beijing, China.
  • Dong JS; Department of Thoracic Surgery, Cancer Institute and Hospital Chinese Academy of Medical Sciences, Beijing, China.
  • Yu Y; Department of Thoracic Surgery, Cancer Institute and Hospital Chinese Academy of Medical Sciences, Beijing, China.
  • Luo M; Department of Thoracic Surgery, Cancer Institute and Hospital Chinese Academy of Medical Sciences, Beijing, China.
  • Feng XL; Department of Pathology, Cancer Institute and Hospital Chinese Academy of Medical Sciences, Beijing, China.
  • Shi SS; Department of Pathology, Cancer Institute and Hospital Chinese Academy of Medical Sciences, Beijing, China.
  • Zhou F; Department of Thoracic Surgery, Cancer Institute and Hospital Chinese Academy of Medical Sciences, Beijing, China.
  • Tan FW; Department of Thoracic Surgery, Cancer Institute and Hospital Chinese Academy of Medical Sciences, Beijing, China.
  • Qiu B; Department of Thoracic Surgery, Cancer Institute and Hospital Chinese Academy of Medical Sciences, Beijing, China.
  • Li N; Department of Thoracic Surgery, Cancer Institute and Hospital Chinese Academy of Medical Sciences, Beijing, China.
  • Shao K; Department of Thoracic Surgery, Cancer Institute and Hospital Chinese Academy of Medical Sciences, Beijing, China.
  • Zhang LJ; Department of Thoracic Surgery, Peking University Cancer Hospital, Beijing, China.
  • Zhang LJ; Department of Thoracic Surgery, Sun Yat-Sen University Cancer Center, Guangzhou, China.
  • Xue Q; Department of Thoracic Surgery, Cancer Institute and Hospital Chinese Academy of Medical Sciences, Beijing, China.
  • Gao SG; Department of Thoracic Surgery, Cancer Institute and Hospital Chinese Academy of Medical Sciences, Beijing, China.
  • He J; Department of Thoracic Surgery, Cancer Institute and Hospital Chinese Academy of Medical Sciences, Beijing, China.
Nat Genet ; 46(10): 1097-102, 2014 Oct.
Article en En | MEDLINE | ID: mdl-25151357
ABSTRACT
Esophageal squamous cell carcinoma (ESCC) is one of the deadliest cancers. We performed exome sequencing on 113 tumor-normal pairs, yielding a mean of 82 non-silent mutations per tumor, and 8 cell lines. The mutational profile of ESCC closely resembles those of squamous cell carcinomas of other tissues but differs from that of esophageal adenocarcinoma. Genes involved in cell cycle and apoptosis regulation were mutated in 99% of cases by somatic alterations of TP53 (93%), CCND1 (33%), CDKN2A (20%), NFE2L2 (10%) and RB1 (9%). Histone modifier genes were frequently mutated, including KMT2D (also called MLL2; 19%), KMT2C (MLL3; 6%), KDM6A (7%), EP300 (10%) and CREBBP (6%). EP300 mutations were associated with poor survival. The Hippo and Notch pathways were dysregulated by mutations in FAT1, FAT2, FAT3 or FAT4 (27%) or AJUBA (JUB; 7%) and NOTCH1, NOTCH2 or NOTCH3 (22%) or FBXW7 (5%), respectively. These results define the mutational landscape of ESCC and highlight mutations in epigenetic modulators with prognostic and potentially therapeutic implications.
Asunto(s)

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Neoplasias Esofágicas / Carcinoma de Células Escamosas / Predisposición Genética a la Enfermedad / Mutación Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article País de afiliación: China

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Neoplasias Esofágicas / Carcinoma de Células Escamosas / Predisposición Genética a la Enfermedad / Mutación Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article País de afiliación: China