• Mutation; HGNC; 1787; CDKN2A; Simple; p.Arg80Ter (c.238C>T) (p.Pro94Leu, c.281C>T); ClinVar=VCV000009409; Zygosity=Unspecified (PubMed=24662767).
  
• Mutation; HGNC; 2214; COL7A1; Simple; p.Gly2749fs (c.8244insC); Zygosity=Homozygous (PubMed=21602893).
  
• Mutation; HGNC; 7881; NOTCH1; Simple; p.Asp1517Asn (c.4549G>A); ClinVar=VCV000523598; Zygosity=Unspecified (PubMed=24662767).
  
• Mutation; HGNC; 7881; NOTCH1; Simple; p.Leu1797Pro (c.5390T>C); Zygosity=Unspecified (PubMed=24662767).
  
• Mutation; HGNC; 7882; NOTCH2; Simple; p.Arg113Ter (c.337C>T); Zygosity=Unspecified (PubMed=24662767).
  
• Mutation; HGNC; 11998; TP53; Simple; p.Gln136Ter (c.406C>T); ClinVar=VCV001802458; Zygosity=Unspecified (PubMed=24662767).
  
• Mutation; HGNC; 11998; TP53; Simple; p.Pro152Leu (c.455C>T); ClinVar=VCV000142766; Zygosity=Unspecified (PubMed=21602893).
  

PubMed=21602893; DOI=10.1038/onc.2011.180
Watt S.A., Pourreyron C., Purdie K.J., Hogan C., Killick-Cole C.L., Foster N., Pratt N., Bourdon J.-C., Appleyard V., Murray K., Thompson A.M., Mao X., Mein C.A., Bruckner-Tuderman L.K., Evans A., McGrath J.A., Proby C.M., Foerster J., Leigh I.M., South A.P.
Integrative mRNA profiling comparing cultured primary cells with clinical samples reveals PLK1 and C20orf20 as therapeutic targets in cutaneous squamous cell carcinoma.
Oncogene 30:4666-4677(2011)

PubMed=22006338; DOI=10.1073/pnas.1114669108
Wang N.J., Sanborn Z., Arnett K.L., Bayston L.J., Liao W., Proby C.M., Leigh I.M., Collisson E.A., Gordon P.B., Jakkula L.R., Pennypacker S., Zou Y., Sharma M., North J.P., Vemula S.S., Mauro T.M., Neuhaus I.M., LeBoit P.E., Hur J.S., Park K., Huh N., Kwok P.-Y., Arron S.T., Massion P.P., Bale A.E., Haussler D., Cleaver J.E., Gray J.W., Spellman P.T., South A.P., Aster J.C., Blacklow S.C., Cho R.J.
Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma.
Proc. Natl. Acad. Sci. U.S.A. 108:17761-17766(2011)

PubMed=24662767; DOI=10.1038/jid.2014.154
South A.P., Purdie K.J., Watt S.A., Haldenby S., den Breems N.Y., Dimon M., Arron S.T., Kluk M.J., Aster J.C., McHugh A., Xue D.J., Dayal J.H.S., Robinson K.S., Rizvi S.M.H., Proby C.M., Harwood C.A., Leigh I.M.
NOTCH1 mutations occur early during cutaneous squamous cell carcinogenesis.
J. Invest. Dermatol. 134:2630-2638(2014)

PubMed=29755650; DOI=10.18632/oncotarget.24750
McHugh A., Fernandes K., South A.P., Mellerio J.E., Salas-Alanis J.C., Proby C.M., Leigh I.M., Saville M.K.
Preclinical comparison of proteasome and ubiquitin E1 enzyme inhibitors in cutaneous squamous cell carcinoma: the identification of mechanisms of differential sensitivity.
Oncotarget 9:20265-20281(2018)