RGD Reference Report - Mutational landscape of aggressive cutaneous squamous cell carcinoma. - Rat Genome Database

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Mutational landscape of aggressive cutaneous squamous cell carcinoma.

Authors: Pickering, CR  Zhou, JH  Lee, JJ  Drummond, JA  Peng, SA  Saade, RE  Tsai, KY  Curry, J  Tetzlaff, MT  Lai, SY  Yu, J  Muzny, DM  Doddapaneni, H  Shinbrot, E  Covington, KR  Zhang, J  Seth, S  Caulin, C  Clayman, GL  El-Naggar, AK  Gibbs, RA  Weber, RS  Myers, JN  Wheeler, DA  Frederick, MJ 
Citation: Pickering CR, etal., Clin Cancer Res. 2014 Oct 10. pii: clincanres.1768.2014.
RGD ID: 9588232
Pubmed: PMID:25303977   (View Abstract at PubMed)
PMCID: PMC4367811   (View Article at PubMed Central)
DOI: DOI:10.1158/1078-0432.CCR-14-1768   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
squamous cell carcinoma severityIAGP 9588232DNA:mutations:multiple (human)RGD 
squamous cell carcinoma severityISOKMT2C (Homo sapiens)9588232; 9588232DNA:mutations:multiple (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Abnormality of head or neck severityIAGP 9588232DNA:mutations:multipleRGD 
Objects Annotated

Genes (Rattus norvegicus)
Kmt2c  (lysine methyltransferase 2C)

Genes (Mus musculus)
Kmt2c  (lysine (K)-specific methyltransferase 2C)

Genes (Homo sapiens)
KMT2C  (lysine methyltransferase 2C)


Additional Information