Data/hora: 14/06/2024 01:56:21

Provedor de dados: 	74	
País: 	Brazil	
Título: 	Mutational landscape of head and neck squamous cell carcinomas in a South Asian population	
Autores: 	Ghias,Kulsoom; Rehmani,Sadiq S; Razzak,Safina A; Madhani,Sarosh; Azim,M. Kamran; Ahmed,Rashida; Khan,Mumtaz J.	
Data: 	2019-09-01	
Ano: 	2019	
Palavras-chave: 	Head and neck squamous cell carcinoma (HNSCC); Whole exome sequencing; Driver mutation; Novel mutation; Pakistani population.	
Resumo: 	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.	
Tipo: 	Info:eu-repo/semantics/article	
Idioma: 	Inglês	
Identificador: 	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000400526	
Editor: 	Sociedade Brasileira de Genética	
Relação: 	10.1590/1678-4685-gmb-2018-0005	
Formato: 	text/html	
Fonte: 	Genetics and Molecular Biology  v.42 n.3 2019	
Fonte: 	info:eu-repo/semantics/openAccess