Mutational landscape of head and neck squamous cell carcinomas in a South Asian population
| Autor: | M. Kamran Azim, Rashida Ahmed, Sadiq S. Rehmani, Kulsoom Ghias, Safina Abdul Razzak, Mumtaz J. Khan, Sarosh Madhani |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
0106 biological sciences
0301 basic medicine Population Single-nucleotide polymorphism Biology 01 natural sciences whole exome sequencing 03 medical and health sciences Genotype Genetics medicine education Molecular Biology Exome sequencing education.field_of_study Head and neck cancer driver mutation Cancer Head and neck squamous cell carcinoma (HNSCC) Pakistani population medicine.disease Actin cytoskeleton Head and neck squamous-cell carcinoma stomatognathic diseases 030104 developmental biology Human and Medical Genetics Cancer research novel mutation 010606 plant biology & botany |
| Zdroj: | Genetics and Molecular Biology, Volume: 42, Issue: 3, Pages: 526-542, Published: 14 NOV 2019 Genetics and Molecular Biology Genetics and Molecular Biology v.42 n.3 2019 Sociedade Brasileira de Genética (SBG) instacron:SBG |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|