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Identification of mutations in the PYRIN-containing NLR genes (NLRP) in head and neck squamous cell carcinoma

Lei, Y and Lui, VWY and Grandis, JR and Egloff, AM (2014) Identification of mutations in the PYRIN-containing NLR genes (NLRP) in head and neck squamous cell carcinoma. PLoS ONE, 9 (1).

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Head and Neck Squamous Cell Carcinoma (HNSCC) encompasses malignancies that arise in the mucosa of the upper aerodigestive tract. Recent high throughput DNA sequencing revealed HNSCC genes mutations that contribute to several cancer cell characteristics, including dysregulation of cell proliferation and death, intracellular proinflammatory signaling, and autophagy. The PYRIN-domain containing NLR (Nucleotide-binding domain, Leucine rich Repeats - containing) proteins have recently emerged as pivotal modulators of cell death, autophagy, inflammation, and metabolism. Their close physiologic association with cancer development prompted us to determine whether mutations within the NLRP (PYRIN-containing NLR ) gene family were associated with HNSCC genome instability and their clinicopathologic correlations. Catastrophic mutational events underlie cancer cell genome instability and mark a point-of-no-return in cancer cell development and generation of heterogeneity. The mutation profiles of 62 patients with primary conventional type HNSCC excluding other histologic variants were analyzed. Associations were tested using Fisher's Exact test or Mann-Whitney U test. Mutations in NLRP were associated with elevated genome instability as characterized by higher mutation rates. Clinically, NLRP mutations were more frequently found in HNSCC arising in the floor of mouth (50.0%) in comparison with HNSCC at other head and neck locations (14.8%). These mutations were clustered at the leucine rich repeats region of NLRP proteins, and affected NLRP genes were mostly localized at chromosomes 11p15.4 and 19q13.42-19q13.43. Twenty novel NLRP mutations were identified in HNSCC, and mutations in this group of genes were correlated with increased cancer cell genome mutation rates, and such features could be a potential molecular biomarker of HNSCC genome instability. © 2014 Lei et al.


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Item Type: Article
Status: Published
CreatorsEmailPitt UsernameORCID
Lei, Yyul124@pitt.eduYUL124
Lui, VWY
Grandis, JRjgrandis@pitt.eduJGRANDIS
Egloff, AM
ContributionContributors NameEmailPitt UsernameORCID
Date: 21 January 2014
Date Type: Publication
Journal or Publication Title: PLoS ONE
Volume: 9
Number: 1
DOI or Unique Handle: 10.1371/journal.pone.0085619
Schools and Programs: School of Dental Medicine > Dental Science
School of Medicine > Microbiology and Molecular Genetics
School of Medicine > Otolaryngology
School of Medicine > Pharmacology and Chemical Biology
Refereed: Yes
Date Deposited: 19 Jun 2014 17:04
Last Modified: 02 Feb 2019 16:58


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