Mutational landscape of aggressive cutaneous squamous cell carcinoma

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dc.contributor.author Saade, Rami E.
dc.contributor.author Pickering, Curtis R.
dc.contributor.author Zhou, Jane H.
dc.contributor.author Drummond, Jennifer A.
dc.contributor.author Curry, Jonathan
dc.date.accessioned 2017-09-07T06:20:56Z
dc.date.available 2017-09-07T06:20:56Z
dc.date.issued 2017-09-07
dc.identifier.issn 1557-3265 en_US
dc.identifier.uri http://hdl.handle.net/10725/6148
dc.description.abstract Purpose: Aggressive cutaneous squamous cell carcinoma (cSCC) is often a disfiguring and lethal disease. Very little is currently known about the mutations that drive aggressive cSCC. Experimental Design: Whole exome sequencing was performed on 39 cases of aggressive cSCC to identify driver genes and novel therapeutic targets. Significantly mutated genes were identified with MutSig or complementary methods developed to specifically identify candidate tumor suppressors based upon their inactivating mutation bias. Results: Despite the very high mutational background caused by UV exposure, 23 candidate drivers were identified including the well-known cancer-associated genes TP53, CDKN2A, NOTCH1, AJUBA, HRAS, CASP8, FAT1, and KMT2C (MLL3). Three novel candidate tumor suppressors with putative links to cancer or differentiation, NOTCH2, PARD3 and RASA1, were also identified as possible drivers in cSCC. KMT2C mutations were associated with poor outcome and increased bone invasion. Conclusions: The mutational spectrum of cSCC is similar to that of head and neck squamous cell carcinoma and dominated by tumor suppressor genes. These results improve the foundation for understanding this disease and should aid in identifying and treating aggressive cSCC. en_US
dc.language.iso en en_US
dc.title Mutational landscape of aggressive cutaneous squamous cell carcinoma en_US
dc.type Article en_US
dc.description.version Published en_US
dc.author.school SAS en_US
dc.author.idnumber 200102768 en_US
dc.author.department Natural Sciences en_US
dc.description.embargo N/A en_US
dc.relation.journal Clinical Cancer Research en_US
dc.keywords Head and neck/oral cancers en_US
dc.keywords Melanoma/skin cancers en_US
dc.keywords Mutagenesis en_US
dc.keywords Oncogenes en_US
dc.keywords Suppressor genes en_US
dc.keywords Somatic alterations and genetic and environmental risk factors en_US
dc.keywords Cutaneous squamous cell carcinoma en_US
dc.keywords cSCC en_US
dc.keywords Genomics en_US
dc.identifier.doi http://dx.doi.org/ 10.1158/1078-0432.CCR-14-1768 en_US
dc.identifier.ctation Pickering, C. R., Zhou, J. H., Lee, J. J., Drummond, J. A., Peng, S. A., Saade, R. E., ... & Yu, J. (2014). Mutational landscape of aggressive cutaneous squamous cell carcinoma. Clinical cancer research, clincanres-1768. en_US
dc.author.email rami.saade@lau.edu.lb en_US
dc.identifier.tou http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php en_US
dc.identifier.url http://clincancerres.aacrjournals.org/content/early/2014/10/10/1078-0432.CCR-14-1768.full-text.pdf en_US
dc.author.affiliation Lebanese American University en_US

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