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The mutational landscape of head and neck squamous cell carcinoma

Science, ISSN: 0036-8075, Vol: 333, Issue: 6046, Page: 1157-1160
2011
  • 2,115
    Citations
  • 0
    Usage
  • 1,498
    Captures
  • 7
    Mentions
  • 0
    Social Media
Metric Options:   Counts1 Year3 Year

Metrics Details

  • Citations
    2,115
    • Citation Indexes
      2,099
    • Policy Citations
      9
      • Policy Citation
        9
    • Patent Family Citations
      7
      • Patent Families
        7
  • Captures
    1,498
  • Mentions
    7
    • News Mentions
      5
      • News
        5
    • Blog Mentions
      1
      • Blog
        1
    • References
      1
      • Wikipedia
        1

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Article Description

Head and neck squamous cell carcinoma (HNSCC) is a common, morbid, and frequently lethal malignancy. To uncover its mutational spectrum, we analyzed whole-exome sequencing data from 74 tumor-normal pairs. The majority exhibited a mutational profile consistent with tobacco exposure; human papillomavirus was detectable by sequencing DNA from infected tumors. In addition to identifying previously known HNSCC genes (TP53, CDKN2A, PTEN, PIK3CA, and HRAS), our analysis revealed many genes not previously implicated in this malignancy. At least 30% of cases harbored mutations in genes that regulate squamous differentiation (for example, NOTCH1, IRF6, and TP63), implicating its dysregulation as a major driver of HNSCC carcinogenesis. More generally, the results indicate the ability of large-scale sequencing to reveal fundamental tumorigenic mechanisms.

Bibliographic Details

Stransky, Nicolas; Egloff, Ann Marie; Tward, Aaron D; Kostic, Aleksandar D; Cibulskis, Kristian; Sivachenko, Andrey; Kryukov, Gregory V; Lawrence, Michael S; Sougnez, Carrie; McKenna, Aaron; Shefler, Erica; Ramos, Alex H; Stojanov, Petar; Carter, Scott L; Voet, Douglas; Cortés, Maria L; Auclair, Daniel; Berger, Michael F; Saksena, Gordon; Guiducci, Candace; Onofrio, Robert C; Parkin, Melissa; Romkes, Marjorie; Weissfeld, Joel L; Seethala, Raja R; Wang, Lin; Rangel-Escareño, Claudia; Fernandez-Lopez, Juan Carlos; Hidalgo-Miranda, Alfredo; Melendez-Zajgla, Jorge; Winckler, Wendy; Ardlie, Kristin; Gabriel, Stacey B; Meyerson, Matthew; Lander, Eric S; Getz, Gad; Golub, Todd R; Garraway, Levi A; Grandis, Jennifer R

Faculty Opinions Ltd

Multidisciplinary

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