The DOI matches its Crossref record; 63 of the 63 references it cites were found in a registry or an index.
Mutational landscape of gingivo-buccal oral squamous cell carcinoma reveals new recurrently-mutated genes and molecular subgroups
Open accessAbstract
Gingivo-buccal oral squamous cell carcinoma (OSCC-GB), an anatomical and clinical subtype of head and neck squamous cell carcinoma (HNSCC), is prevalent in regions where tobacco-chewing is common. Exome sequencing (n=50) and recurrence testing (n=60) reveals that some significantly and frequently altered genes are specific to OSCC-GB (USP9X, MLL4, ARID2, UNC13C and TRPM3), while some others are shared with HNSCC (for example, TP53, FAT1, CASP8, HRAS and NOTCH1). We also find new genes with recurrent amplifications (for example, DROSHA, YAP1) or homozygous deletions (for example, DDX3X) in OSCC-GB. We find a high proportion of C>G transversions among tobacco users with high numbers of mutations. Many pathways that are enriched for genomic alterations are specific to OSCC-GB. Our work reveals molecular subtypes with distinctive mutational profiles such as patients predominantly harbouring mutations in CASP8 with or without mutations in FAT1. Mean duration of disease-free survival is significantly elevated in some molecular subgroups. These findings open new avenues for biological characterization and exploration of therapies. Gingivo-buccal oral squamous cell carcinoma (OSCC-GB) is the leading cancer among males in India. Here, the authors carry out exome sequencing and recurrence testing in patients with OSCC-GB and highlight genes and biological pathways associated with the disease.
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Uncovering novel mutational signatures by de novo extraction with SigProfilerExtractor
Islam, S. M. A., Díaz-Gay, M., Wu, Y., Barnes, M., Vangara, R., Bergstrom, E. N., He, Y., Vella, M., Wang, J., Teague, J. W., et al. (2022) · Cell Genomics · doi:10.1016/j.xgen.2022.100179 · Cited by 365
Translational genomics and recent advances in oral squamous cell carcinoma
Chai, A. W. Y., Lim, K. P., & Cheong, S. C. (2020) · Seminars in Cancer Biology · doi:10.1016/j.semcancer.2019.09.011 · Cited by 298
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Metadata
- Authors
- India Project Team of the International Cancer Genome Consortium, Maitra, A., Biswas, N. K., Amin, K., Kowtal, P., Kumar, S., Das, S., Sarin, R., Majumder, P. P., Bagchi, I., Bairagya, B. B., Basu, A., Bhan, M. K., Chaturvedi, P., Das, D., D’Cruz, A., Dhar, R., Dutta, D., Ganguli, D., Gera, P., Gupta, T., Mahapatra, S., Mujawar, M. H. K., Mukherjee, S., Nair, S., Nikam, S., Nobre, M., Patil, A., Patra, S., Rama-Gowtham, M., Rao, T. S., Roy, B., Roychowdhury, B., Sarkar, D., Sarkar, S., Sarkar-Roy, N., & Sutradhar, D.
- Venue
- Nature Communications
- Published
- 2013-12-02
- Volume
- 4
- Issue
- 1
- Pages
- 2873-2873
- ISSN
- 2041-1723 (ISSN-L)
- OpenAlex
- W2325219633
- Cited by
- 355
- References
- 63
- FWCI
- 22.78
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- India Project Team of the International Cancer Genome Consortium, Maitra, A., Biswas, N. K., Amin, K., Kowtal, P., Kumar, S., Das, S., Sarin, R., Majumder, P. P., Bagchi, I., Bairagya, B. B., Basu, A., Bhan, M. K., Chaturvedi, P., Das, D., D’Cruz, A., Dhar, R., Dutta, D., Ganguli, D., . . . Sutradhar, D. (2013). Mutational landscape of gingivo-buccal oral squamous cell carcinoma reveals new recurrently-mutated genes and molecular subgroups. Nature Communications. https://doi.org/10.1038/ncomms3873
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