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

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=31336867; DOI=10.3390/ijms20143428
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)