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

PubMed=21602893; DOI=10.1038/onc.2011.180; PMCID=PMC3219832
Stephen A. Watt, Celine Pourreyron, Karin J. Purdie, Chris Hogan, Clare L. Killick-Cole, Nicola Foster, Norman Pratt, Jean-Christophe Bourdon, Maria Viginia C.L. Appleyard, Kevin Murray, Alastair M. Thompson ...Show all 20 authors... , Xin Mao, Charles A. Mein, Leena Kaarina Bruckner-Tuderman, Alan T. Evans, John A. McGrath, Charlotte Mary Proby, John Foerster, Irene May Leigh, Andrew P. South; Show fewer authors
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
Nicholas J. Wang, Zachary Sanborn, Kelly L. Arnett, Laura J. Bayston, Wilson Liao, Charlotte Mary Proby, Irene May Leigh, Eric A. Collisson, Patricia B. Gordon, Lakshmi R. Jakkula, Sally Pennypacker ...Show all 33 authors... , Yong Zou, Mimansa Sharma, Jeffrey P. North, Swapna S. Vemula, Theodora M. Mauro, Isaac M. Neuhaus, Philip E. LeBoit, Joe S. Hur, Kyunghee Park, Nam Huh, Pui-Yan Kwok, Sarah T. Arron, Pierre Pascal Massion, Allen E. Bale, David Haussler, James Edward Cleaver, Joe W. Gray, Paul T. Spellman, Andrew P. South, Jon Christopher Aster, Stephen Charles Blacklow, Raymond J. Cho; Show fewer authors
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
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=29755650; DOI=10.18632/oncotarget.24750; PMCID=PMC5945540
Angela McHugh, Kenneth Fernandes, Andrew P. South, Jemima Elizabet Mellerio, Julio Cesar Salas-Alanis, Charlotte Mary Proby, Irene May Leigh, Mark K. Saville;
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)