• Mutation; HGNC; 7882; NOTCH2; Simple; p.Cys616Phe (c.1847G>T); ClinVar=VCV000498790; Zygosity=Unspecified (PubMed=24662767).
  
• Mutation; HGNC; 7882; NOTCH2; Simple; p.Cys616Ser (c.1847G>C); Zygosity=Unspecified (PubMed=24662767).
  
• Mutation; HGNC; 11998; TP53; Simple; p.Trp91Gly (c.271T>G); Zygosity=Unspecified (PubMed=21602893).
  

PubMed=21602893; DOI=10.1038/onc.2011.180; PMCID=PMC3219832
Watt S.A., Pourreyron C., Purdie K.J., Hogan C., Killick-Cole C.L., Foster N., Pratt N., Bourdon J.-C., Appleyard M.V.C.L., 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; PMCID=PMC3203814
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; PMCID=PMC4753672
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=30202019; DOI=10.1038/s41467-018-06027-1; PMCID=PMC6131170
Inman G.J., Wang J., Nagano A., Alexandrov L.B., Purdie K.J., Taylor R.G., Sherwood V., Thomson J., Hogan S., Spender L.C., South A.P., Stratton M.R., Chelala C., Harwood C.A., Proby C.M., Leigh I.M.
The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.
Nat. Commun. 9:3667.1-3667.14(2018)

PubMed=31336867; DOI=10.3390/ijms20143428; PMCID=PMC6678499
Hassan S., Purdie K.J., Wang J., Harwood C.A., Proby C.M., Pourreyron C., Mladkova N., Nagano A., Dhayade S., Athineos D., Caley M., Mannella V., Blyth K., Inman G.J., Leigh I.M.
A Unique panel of patient-derived cutaneous squamous cell carcinoma cell lines provides a preclinical pathway for therapeutic testing.
Int. J. Mol. Sci. 20:3428.1-3428.26(2019)