[PROVISIONAL] 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 wi...
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doaj-d6d3e399f0044ba78f7607f2bcefcf732020-11-24T21:21:05ZengSociedade Brasileira de GenéticaGenetics and Molecular Biology1678-4685010.1590/1678-4685-gmb-2018-0005S1415-47572019005019101[PROVISIONAL] Mutational landscape of head and neck squamous cell carcinomas in a South Asian populationKulsoom GhiasSadiq S RehmaniSafina A RazzakSarosh MadhaniM Kamran AzimRashida AhmedMumtaz J KhanAbstract 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 (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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019005019101&lng=en&tlng=enHead and neck squamous cell carcinoma (HNSCC)Whole exome sequencingMutation, driverMutation, novelPakistani population |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Kulsoom Ghias Sadiq S Rehmani Safina A Razzak Sarosh Madhani M Kamran Azim Rashida Ahmed Mumtaz J Khan |
spellingShingle |
Kulsoom Ghias Sadiq S Rehmani Safina A Razzak Sarosh Madhani M Kamran Azim Rashida Ahmed Mumtaz J Khan [PROVISIONAL] Mutational landscape of head and neck squamous cell carcinomas in a South Asian population Genetics and Molecular Biology Head and neck squamous cell carcinoma (HNSCC) Whole exome sequencing Mutation, driver Mutation, novel Pakistani population |
author_facet |
Kulsoom Ghias Sadiq S Rehmani Safina A Razzak Sarosh Madhani M Kamran Azim Rashida Ahmed Mumtaz J Khan |
author_sort |
Kulsoom Ghias |
title |
[PROVISIONAL] Mutational landscape of head and neck squamous cell carcinomas in a South Asian population |
title_short |
[PROVISIONAL] Mutational landscape of head and neck squamous cell carcinomas in a South Asian population |
title_full |
[PROVISIONAL] Mutational landscape of head and neck squamous cell carcinomas in a South Asian population |
title_fullStr |
[PROVISIONAL] Mutational landscape of head and neck squamous cell carcinomas in a South Asian population |
title_full_unstemmed |
[PROVISIONAL] Mutational landscape of head and neck squamous cell carcinomas in a South Asian population |
title_sort |
[provisional] mutational landscape of head and neck squamous cell carcinomas in a south asian population |
publisher |
Sociedade Brasileira de Genética |
series |
Genetics and Molecular Biology |
issn |
1678-4685 |
description |
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 (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. |
topic |
Head and neck squamous cell carcinoma (HNSCC) Whole exome sequencing Mutation, driver Mutation, novel Pakistani population |
url |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019005019101&lng=en&tlng=en |
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