• Mutation; HGNC; HGNC:7881; NOTCH1; Simple; p.Gln1687Ter (c.5059C>T); Zygosity=Unspecified (PubMed=22006338; PubMed=24662767).
  

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=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)