Landscape of genomic alterations in cervical carcinomas
Por:
Ojesina A.I., Lichtenstein L., Freeman S.S., Pedamallu C.S., Imaz-Rosshandler I., Pugh T.J., Cherniack A.D., Ambrogio L., Cibulskis K., Bertelsen B., Romero-Cordoba S., Trevino, V, Vazquez-Santillan K., Guadarrama A.S., Wright A.A., Rosenberg M.W., Duke F., Kaplan B., Wang R., Nickerson E., Walline H.M., Lawrence M.S., Stewart C., Carter S.L., McKenna A., Rodriguez-Sanchez I.P., Espinosa-Castilla M., Woie K., Bjorge L., Wik E., Halle M.K., Hoivik E.A., Krakstad C., Gabino, NB, Gómez-Macías G.S., Valdez-Chapa L.D., Garza-Rodríguez M.L., Maytorena G., Vazquez J., Rodea C., Cravioto A., Cortes M.L., Greulich H., Crum C.P., Neuberg D.S., Hidalgo-Miranda A., Escareno C.R., Akslen L.A., Carey T.E., Vintermyr O.K., Gabriel S.B., Barrera-Saldaña H.A., Melendez-Zajgla J., Getz G., Salvesen H.B., Meyerson M.
Publicada:
20 feb 2014
Categoría:
Multidisciplinary
Resumen:
Cervical cancer is responsible for 10-15% of cancer-related deaths in women worldwide(1,2). The aetiological role of infection with high-risk human papilloma viruses (HPVs) in cervical carcinomas is well established(3). Previous studies have also implicated somatic mutations in PIK3CA, PTEN, TP53, STK11 and KRAS(4-7) as well as several copy-number alterations in the pathogenesis of cervical carcinomas(8,9). 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 (13%) and CBFB (8%) mutations in 24 adenocarcinomas. Squamous cell carcinomas have higher frequencies of
Filiaciones:
Ojesina A.I.:
Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, United States
Eli and Edythe L. Broad Institute of Massachusetts, Institute of Technology, Harvard University, Cambridge, MA 02142, United States
Lichtenstein L.:
Eli and Edythe L. Broad Institute of Massachusetts, Institute of Technology, Harvard University, Cambridge, MA 02142, United States
Freeman S.S.:
Eli and Edythe L. Broad Institute of Massachusetts, Institute of Technology, Harvard University, Cambridge, MA 02142, United States
Pedamallu C.S.:
Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, United States
Eli and Edythe L. Broad Institute of Massachusetts, Institute of Technology, Harvard University, Cambridge, MA 02142, United States
Imaz-Rosshandler I.:
Instituto Nacional de Medicina Genomica, Mexico City 14610, Mexico
Pugh T.J.:
Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, United States
Eli and Edythe L. Broad Institute of Massachusetts, Institute of Technology, Harvard University, Cambridge, MA 02142, United States
Cherniack A.D.:
Eli and Edythe L. Broad Institute of Massachusetts, Institute of Technology, Harvard University, Cambridge, MA 02142, United States
Ambrogio L.:
Eli and Edythe L. Broad Institute of Massachusetts, Institute of Technology, Harvard University, Cambridge, MA 02142, United States
Cibulskis K.:
Eli and Edythe L. Broad Institute of Massachusetts, Institute of Technology, Harvard University, Cambridge, MA 02142, United States
Bertelsen B.:
Department of Pathology, Haukeland University Hospital, N5021 Bergen, Norway
Romero-Cordoba S.:
Instituto Nacional de Medicina Genomica, Mexico City 14610, Mexico
Vazquez-Santillan K.:
Instituto Nacional de Medicina Genomica, Mexico City 14610, Mexico
Guadarrama A.S.:
Instituto Nacional de Medicina Genomica, Mexico City 14610, Mexico
Wright A.A.:
Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, United States
Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, United States
Rosenberg M.W.:
Eli and Edythe L. Broad Institute of Massachusetts, Institute of Technology, Harvard University, Cambridge, MA 02142, United States
Duke F.:
Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, United States
Kaplan B.:
Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, United States
Eli and Edythe L. Broad Institute of Massachusetts, Institute of Technology, Harvard University, Cambridge, MA 02142, United States
Wang R.:
Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, United States
Department of Thoracic Surgery, Fudan University Shanghai Cancer Center, Shanghai 200032, China
Nickerson E.:
Eli and Edythe L. Broad Institute of Massachusetts, Institute of Technology, Harvard University, Cambridge, MA 02142, United States
Walline H.M.:
Cancer Biology Program, Rackham Graduate School, University of Michigan, Ann Arbor, MI 48109, United States
Lawrence M.S.:
Eli and Edythe L. Broad Institute of Massachusetts, Institute of Technology, Harvard University, Cambridge, MA 02142, United States
Stewart C.:
Eli and Edythe L. Broad Institute of Massachusetts, Institute of Technology, Harvard University, Cambridge, MA 02142, United States
Carter S.L.:
Eli and Edythe L. Broad Institute of Massachusetts, Institute of Technology, Harvard University, Cambridge, MA 02142, United States
McKenna A.:
Eli and Edythe L. Broad Institute of Massachusetts, Institute of Technology, Harvard University, Cambridge, MA 02142, United States
Rodriguez-Sanchez I.P.:
Facultad de Medicina y Hospital Universitario 'Dr. José Eluterio González', Universidad Autónoma de Nuevo León, Monterrey, Nuevo León 64460, Mexico
Espinosa-Castilla M.:
Instituto Nacional de Medicina Genomica, Mexico City 14610, Mexico
Woie K.:
Department of Obstetrics and Gynecology, Haukeland University Hospital, N5021 Bergen, Norway
Bjorge L.:
Department of Obstetrics and Gynecology, Haukeland University Hospital, N5021 Bergen, Norway
Department of Clinical Science, Centre for Cancer Biomarkers, University of Bergen, N5020 Bergen, Norway
Wik E.:
Department of Obstetrics and Gynecology, Haukeland University Hospital, N5021 Bergen, Norway
Department of Clinical Science, Centre for Cancer Biomarkers, University of Bergen, N5020 Bergen, Norway
Halle M.K.:
Department of Obstetrics and Gynecology, Haukeland University Hospital, N5021 Bergen, Norway
Department of Clinical Science, Centre for Cancer Biomarkers, University of Bergen, N5020 Bergen, Norway
Hoivik E.A.:
Department of Obstetrics and Gynecology, Haukeland University Hospital, N5021 Bergen, Norway
Department of Clinical Science, Centre for Cancer Biomarkers, University of Bergen, N5020 Bergen, Norway
Krakstad C.:
Department of Obstetrics and Gynecology, Haukeland University Hospital, N5021 Bergen, Norway
Department of Clinical Science, Centre for Cancer Biomarkers, University of Bergen, N5020 Bergen, Norway
Gómez-Macías G.S.:
Facultad de Medicina y Hospital Universitario 'Dr. José Eluterio González', Universidad Autónoma de Nuevo León, Monterrey, Nuevo León 64460, Mexico
Valdez-Chapa L.D.:
Facultad de Medicina y Hospital Universitario 'Dr. José Eluterio González', Universidad Autónoma de Nuevo León, Monterrey, Nuevo León 64460, Mexico
Garza-Rodríguez M.L.:
Facultad de Medicina y Hospital Universitario 'Dr. José Eluterio González', Universidad Autónoma de Nuevo León, Monterrey, Nuevo León 64460, Mexico
Maytorena G.:
Instituto Mexicano Del Seguro Social, Mexico City 06720, Mexico
Vazquez J.:
Instituto Mexicano Del Seguro Social, Mexico City 06720, Mexico
Rodea C.:
Instituto Mexicano Del Seguro Social, Mexico City 06720, Mexico
Cravioto A.:
Instituto Mexicano Del Seguro Social, Mexico City 06720, Mexico
Cortes M.L.:
Eli and Edythe L. Broad Institute of Massachusetts, Institute of Technology, Harvard University, Cambridge, MA 02142, United States
Greulich H.:
Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, United States
Eli and Edythe L. Broad Institute of Massachusetts, Institute of Technology, Harvard University, Cambridge, MA 02142, United States
Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, United States
Crum C.P.:
Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, United States
Neuberg D.S.:
Department of Biostatistics and Computational Biology, Dana-Farber Cancer Institute, Boston, MA 02215, United States
Hidalgo-Miranda A.:
Instituto Nacional de Medicina Genomica, Mexico City 14610, Mexico
Escareno C.R.:
Instituto Nacional de Medicina Genomica, Mexico City 14610, Mexico
Claremont Graduate University, Claremont, CA 91711, United States
Akslen L.A.:
Department of Pathology, Haukeland University Hospital, N5021 Bergen, Norway
Centre for Cancer Biomarkers, Department of Clinical Medicine, University of Bergen, N5020 Bergen, Norway
Carey T.E.:
Head and Neck Oncology Program, Department of Otolaryngology, University of Michigan Comprehensive Cancer Center, Ann Arbor, MI 38109, United States
Vintermyr O.K.:
Department of Pathology, Haukeland University Hospital, N5021 Bergen, Norway
Centre for Cancer Biomarkers, Department of Clinical Medicine, University of Bergen, N5020 Bergen, Norway
Gabriel S.B.:
Eli and Edythe L. Broad Institute of Massachusetts, Institute of Technology, Harvard University, Cambridge, MA 02142, United States
Barrera-Saldaña H.A.:
Facultad de Medicina y Hospital Universitario 'Dr. José Eluterio González', Universidad Autónoma de Nuevo León, Monterrey, Nuevo León 64460, Mexico
Melendez-Zajgla J.:
Instituto Nacional de Medicina Genomica, Mexico City 14610, Mexico
Getz G.:
Eli and Edythe L. Broad Institute of Massachusetts, Institute of Technology, Harvard University, Cambridge, MA 02142, United States
Massachusetts General Hospital Cancer Center, Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, United States
Salvesen H.B.:
Department of Obstetrics and Gynecology, Haukeland University Hospital, N5021 Bergen, Norway
Department of Clinical Science, Centre for Cancer Biomarkers, University of Bergen, N5020 Bergen, Norway
Meyerson M.:
Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, United States
Eli and Edythe L. Broad Institute of Massachusetts, Institute of Technology, Harvard University, Cambridge, MA 02142, United States
Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, United States
Tecnológico de Monterrey, Monterrey 64849, Mexico
All Open Access; Green
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