Abstract 4370: ASNS and other significant mutations in head and neck squamous cell carcinomas: mutational landscape in a South Asian population
| العنوان: | Abstract 4370: ASNS and other significant mutations in head and neck squamous cell carcinomas: mutational landscape in a South Asian population |
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| المؤلفون: | M. Kamran Azim, Sarosh Madhani, Safina Abdul Razzak, Sadiq S. Rehmani, Rashdia Ahmed, Kulsoom Ghias, Mumtaz J. Khan |
| المصدر: | Cancer Research. 77:4370-4370 |
| بيانات النشر: | American Association for Cancer Research (AACR), 2017. |
| سنة النشر: | 2017 |
| مصطلحات موضوعية: | Oncology, Cancer Research, medicine.medical_specialty, medicine.anatomical_structure, Internal medicine, Cell, South asian population, medicine, Biology, Head and neck |
| الوصف: | Head and neck cancers are the sixth most common cancer type globally and contribute significantly to the burden of disease in South Asia. Specifically in Pakistan, they are the most commonly diagnosed cancer in males and the second most common in females. The increasing burden of head and neck squamous cell carcinoma (HNSCC) in the region along with a unique set of risk factors merited a deeper investigation of the disease at the genomic level. Whole exome sequencing of HPV-negative HNSCC samples and matched normal genomic DNA (n = 7) was performed. Smoking, oral tobacco use and alcohol were identified risk factors in the study cohort. Significant somatic single nucleotide variants (SNVs) were identified and pathway analysis performed to determine most frequently affected signaling pathways. Significant, novel recurrent mutation in ASNS (asparagine synthetase) and driver mutations in previously reported genes, including TP53, PIK3CA, FGFR2, ARID2, MLL3, MYC and ALK, were identified. Using the IntOGen platform, we identified MAP kinase, cell cycle, actin cytoskeleton regulation, PI3K-Akt signaling and other pathways in cancer as among the most commonly affected pathways in all 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. Citation Format: Sadiq Rehmani, Safina Abdul Razzak, Sarosh Madhani, M Kamran Azim, Rashdia Ahmed, Mumtaz Khan, Kulsoom Ghias. ASNS and other significant mutations in head and neck squamous cell carcinomas: mutational landscape in a South Asian population [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2017; 2017 Apr 1-5; Washington, DC. Philadelphia (PA): AACR; Cancer Res 2017;77(13 Suppl):Abstract nr 4370. doi:10.1158/1538-7445.AM2017-4370 |
| تدمد: | 1538-7445 0008-5472 |
| DOI: | 10.1158/1538-7445.am2017-4370 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_________::dd765629de282659241ffaa753b2a05d https://doi.org/10.1158/1538-7445.am2017-4370 |
| رقم الانضمام: | edsair.doi...........dd765629de282659241ffaa753b2a05d |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15387445 00085472 |
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| DOI: | 10.1158/1538-7445.am2017-4370 |