Stransky N, Egloff AM, Tward AD, Kostic AD, Cibulskis K, Sivachenko A, Kryukov GV, Lawrence MS, Sougnez C, McKenna A, et al. The mutational landscape of head and neck squamous cell carcinoma. Science. 2011;333:1157–60.
NOTES
Stransky, NicolasEgloff, Ann MarieTward, Aaron DKostic, Aleksandar DCibulskis, KristianSivachenko, AndreyKryukov, Gregory VLawrence, Michael SSougnez, CarrieMcKenna, AaronShefler, EricaRamos, Alex HStojanov, PetarCarter, Scott LVoet, DouglasCortes, Maria LAuclair, DanielBerger, Michael FSaksena, GordonGuiducci, CandaceOnofrio, Robert CParkin, MelissaRomkes, MarjorieWeissfeld, Joel LSeethala, Raja RWang, LinRangel-Escareno, ClaudiaFernandez-Lopez, Juan CarlosHidalgo-Miranda, AlfredoMelendez-Zajgla, JorgeWinckler, WendyArdlie, KristinGabriel, Stacey BMeyerson, MatthewLander, Eric SGetz, GadGolub, Todd RGarraway, Levi AGrandis, Jennifer RengUL1 TR000005/TR/NCATS NIH HHS/U54 HG003067/HG/NHGRI NIH HHS/R01 CA077308/CA/NCI NIH HHS/R01 CA098372/CA/NCI NIH HHS/P50 CA097190/CA/NCI NIH HHS/Howard Hughes Medical Institute/Research Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tScience. 2011 Aug 26;333(6046):1157-60. doi: 10.1126/science.1208130. Epub 2011 Jul 28.
Abstract
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.
Last updated on 02/17/2021