• Mutation; HGNC; HGNC:7882; NOTCH2; Simple; p.Thr2295Ala (c.6883A>G); Zygosity=Unspecified (PubMed=24662767).
  

PubMed=24662767; DOI=10.1038/jid.2014.154; PMCID=PMC4753672
Andrew P. South, Karin J. Purdie, Stephen A. Watt, Sam Haldenby, Nicoline Y. den Breems, Michelle Dimon, Sarah T. Arron, Michael J. Kluk, Jon Christopher Aster, Angela McHugh, Dylan J. Xue ...Show all 17 authors... , Jasbani H.S. Dayal, Kim S. Robinson, S.M. Hasan Rizvi, Charlotte Mary Proby, Catherine A. Harwood, Irene May Leigh; Show fewer authors
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
Gareth J. Inman, Jun Wang, Ai Nagano, Ludmil B. Alexandrov, Karin J. Purdie, Richard G. Taylor, Victoria Sherwood, Jason Thomson, Sarah Hogan, Lindsay C. Spender, Andrew P. South ...Show all 16 authors... , Michael Rudolf Stratton, Claude Chelala, Catherine A. Harwood, Charlotte Mary Proby, Irene May Leigh; Show fewer authors
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
Sakinah Hassan, Karin J. Purdie, Jun Wang, Catherine A. Harwood, Charlotte Mary Proby, Celine Pourreyron, Nikol Mladkova, Ai Nagano, Sandeep Dhayade, Dimitris Athineos, Matthew Caley ...Show all 15 authors... , Viviana Mannella, Karen Blyth, Gareth J. Inman, Irene May Leigh; Show fewer authors
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)