The mutational landscape of head and neck squamous cell carcinoma.
نویسندگان
چکیده
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.
منابع مشابه
Incidence of Etiologic Factors in Squamous Cell Carcinoma of Head and Neck in Ahvaz
Introduction: Squamous cell carcinoma (SCC) is the most common head and neck malignancy. Smoking, alcohol consumption, viral infections, exposure, oral hygiene, and dietary, genetic, and occupational factors are the most important etiologic factors. The aim of this study was determining the incidence of etiologic factors in head and neck SCC. Materials and Methods: This is a cross-sectiona...
متن کاملPrognostic Significance of MMP2 and MMP9 Functional Promoter Single Nucleotide Polymorphisms in Head and Neck Squamous Cell Carcinoma
Objective(s) Matrix metalloproteinases comprise a family of enzyme that is able to degrade components of extra cellular matrix. There are single nucleotide polymorphisms in the promoter regions of several genes with ability to influence cancer susceptibility. The aim of this study was to analyses association between MMP2 and MMP9 promoter polymorphisms and head and neck squamous cell carcinoma...
متن کاملAnalysis of Serum Cytokine Levels in Larynx Squamous Cell Carcinoma and Dysplasia Patients
Background: Although the imbalance of cytokines in Head and Neck Squamous Cell Carcinoma (HNSCC) is well known, there is scarce data regarding its occurrence during dysplasia, before the malignant transformation. Objective: To determine whether laryngeal dysplasia patients show a different cytokine profile than patients with cancer and healthy controls. Methods: Seventeen newly diagnosed, untre...
متن کاملDensity of mast-cells and Microvessels Density in head and neck cutaneous Squamous Cell Carcinoma
Background and Aim: Cutaneous squamous cell carcinoma (CSCC) is the second most common skin cancer. Mast cells may play a role in tumor progression and metastasis by increasing angiogenesis. The aim of this study was to investigate the role of mast cells by increasing angiogenesis in invasion of head and neck cutaneous squamous cell carcinoma. Materials and Methods: In this cross-sectional stud...
متن کاملOverexpression of High-Mobility Motor Box 1 in the Blood and Tissues of Patients with Head and Neck Squamous Cell Carcinoma
Introduction: Head and neck squamous cell carcinoma (HNSCC) is one of the most common cancers in the world. Extra- and intra-cellular high-mobility motor box 1 (HMGB1) proteins are invovled in the pathogenesis and prognosis of cancer. Regarding this, the present study was conducted with the aim of investigating the expression of HMGB1 protein and mRNA levels in the blood, tumor tissue, and mar...
متن کاملCyclin D1 Expression in Patients with Laryngeal Squamous Cell Carcinoma
Background & Objective: Laryngeal squamous cell carcinoma (LSCC) is considered to be one of the most common cancers of the head and neck, accounting for roughly 90% of all malignant tumors of the larynx. To have a timely diagnosis for a better and practical therapy, molecular markers have to be investigated. The aim of this study was to determine the expression of Cyclin D1 (CD...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Science
دوره 333 6046 شماره
صفحات -
تاریخ انتشار 2011