作者
Akinyemi I Ojesina, Lee Lichtenstein, Samuel S Freeman, Chandra Sekhar Pedamallu, Ivan Imaz-Rosshandler, Trevor J Pugh, Andrew D Cherniack, Lauren Ambrogio, Kristian Cibulskis, Bjørn Bertelsen, Sandra Romero-Cordoba, Victor Trevino, Karla Vazquez-Santillan, Alberto Salido Guadarrama, Alexi A Wright, Mara W Rosenberg, Fujiko Duke, Bethany Kaplan, Rui Wang, Elizabeth Nickerson, Heather M Walline, Michael S Lawrence, Chip Stewart, Scott L Carter, Aaron McKenna, Iram P Rodriguez-Sanchez, Magali Espinosa-Castilla, Kathrine Woie, Line Bjorge, Elisabeth Wik, Mari K Halle, Erling A Hoivik, Camilla Krakstad, Nayeli Belem Gabiño, Gabriela Sofia Gómez-Macías, Lezmes D Valdez-Chapa, María Lourdes Garza-Rodríguez, German Maytorena, Jorge Vazquez, Carlos Rodea, Adrian Cravioto, Maria L Cortes, Heidi Greulich, Christopher P Crum, Donna S Neuberg, Alfredo Hidalgo-Miranda, Claudia Rangel Escareno, Lars A Akslen, Thomas E Carey, Olav K Vintermyr, Stacey B Gabriel, Hugo A Barrera-Saldana, Jorge Melendez-Zajgla, Gad Getz, Helga B Salvesen, Matthew Meyerson
发表日期
2014/2/20
期刊
Nature
卷号
506
期号
7488
页码范围
371-375
出版商
Nature Publishing Group UK
简介
Cervical cancer is responsible for 10–15% of cancer-related deaths in women worldwide,. The aetiological role of infection with high-risk human papilloma viruses (HPVs) in cervical carcinomas is well established. Previous studies have also implicated somatic mutations in PIK3CA, PTEN, TP53, STK11 and KRAS,,, as well as several copy-number alterations in the pathogenesis of cervical carcinomas,. Here we report whole-exome sequencing analysis of 115 cervical carcinoma–normal paired samples, transcriptome sequencing of 79 cases and whole-genome sequencing of 14 tumour–normal pairs. Previously unknown somatic mutations in 79 primary squamous cell carcinomas include recurrent E322K substitutions in the MAPK1 gene (8%), inactivating mutations in the HLA-B gene (9%), and mutations in EP300 (16%), FBXW7 (15%), NFE2L2 (4%), TP53 (5%) and ERBB2 (6%). We also observe somatic ELF3 …
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AI Ojesina, L Lichtenstein, SS Freeman, CS Pedamallu… - Nature, 2014