Mutational landscape of head and neck squamous cell carcinomas in a South Asian population

Abstract Head and neck squamous cell carcinoma (HNSCC) is the sixth most common cancer type globally and contributes significantly to burden of disease in South Asia. In Pakistan, HNSCC is among the most commonly diagnosed cancer in males and females. The increasing regional burden of HNSCC along with a unique set of risk factors merited a deeper investigation of the disease at the genomic level. Whole exome sequencing of HNSCC samples and matched normal genomic DNA analysis (n=7) was performed. Significant somatic single nucleotide variants (SNVs) were identified and pathway analysis performed to determine frequently affected signaling pathways. We identified significant, novel recurrent mutations in ASNS (asparagine synthetase) that may affect substrate binding, and variants in driver genes including TP53, PIK3CA, FGFR2, ARID2, MLL3, MYC and ALK. Using the IntOGen platform, we identified MAP kinase, cell cycle, actin cytoskeleton regulation, PI3K-Akt signaling and other pathways in cancer as affected in the samples. This data is the first of its kind from the Pakistani population. The results of this study can guide a better mechanistic understanding of HNSCC in the population, ultimately contributing new, rational therapeutic targets for the treatment of the disease.
Source: Genetics and Molecular Biology - Category: Genetics & Stem Cells Source Type: research

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In conclusion, CTD-2357A8.3 may be considered a promising diagnosis biomarker or a therapeutic target for the treatment of HNSCC. PMID: 31807160 [PubMed]
Source: Oncology Letters - Category: Cancer & Oncology Tags: Oncol Lett Source Type: research
Source: Anti-Cancer Agents in Medicinal Chemistry - Category: Cancer & Oncology Authors: Tags: Research article Source Type: research
This report is the first study where NGS analysis based on multiplex-PCR is used to demonstrate the imminent occurrence of missense SMAD4 mutations in HNSCC cells. The gene analysis that we performed may support the identification of SMAD4 mutations as a diagnostic marker or even as a potential therapeutic target in head and neck cancer. Moreover, the analytic strategy proposed for the detection of mutations in the SMAD4 gene may be validated as a platform to assist mutation screening.
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
Authors: Guo B, Wang L, Qin X, Shen Y, Ma C Abstract A number of studies have reported the upregulation and functional roles of Jumonji domain-containing protein 6 (JMJD6) in various types of cancer. However, little is known regarding the clinical significance of JMJD6 in head and neck squamous cell carcinoma (HNSCC), particularly in terms of large-cohort data. In the present study, bioinformatics analysis was performed, using the University of California Santa Cruz Xena Browser and the Gene Expression Profiling Interactive Analysis 2 server, based on the Cancer Genome Atlas HNSCC cohort. In addition, a validation ...
Source: Oncology Letters - Category: Cancer & Oncology Tags: Oncol Lett Source Type: research
Authors: Zhong P, Liu L, Shen A, Chen Z, Hu X, Cai Y, Lin J, Wang B, Li J, Chen Y, Peng J Abstract Despite advancements in treatment regimens, the mortality rate of patients with oral tongue squamous cell carcinoma (OTSCC) is high. In addition, the signaling pathways and oncoproteins involved in OTSCC progression remain largely unknown. Therefore, the aim of the present study was to identify specific prognostic marker for patients at a high risk of developing OTSCC. The present study used four original microarray datasets to identify the key candidate genes involved in OTSCC pathogenesis. Expression profiles of 93 ...
Source: Oncology Letters - Category: Cancer & Oncology Tags: Oncol Lett Source Type: research
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Source: Current Treatment Options in Oncology - Category: Cancer & Oncology Source Type: research
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Source: European Journal of Pharmacology - Category: Drugs & Pharmacology Authors: Tags: Eur J Pharmacol Source Type: research
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Source: Cancer Medicine - Category: Cancer & Oncology Authors: Tags: ORIGINAL RESEARCH Source Type: research
We examined the clonal relatedness of ...
Source: BMC Cancer - Category: Cancer & Oncology Authors: Tags: Research article Source Type: research
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Source: Cancer Medicine - Category: Cancer & Oncology Authors: Tags: ORIGINAL RESEARCH Source Type: research
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