Frontiers of science: Signatures of Mutation in Squamous Cell Carcinoma


October 3, 2019    
12:00 pm - 1:00 pm


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Dr. Andrew South, Jefferson College of Life Sciences, Philadelphia, USA
Signatures of Mutation in Squamous Cell Carcinoma

Host: Veli-Matti Kähäri ( )

Andrew South is a genetics graduate from the University of Leeds, He obtained his Ph.D. from the University of London in 1999 whilst working on the human genome project with Dean Nizetic. From 1999‐2002 he was a postdoctoral research fellow at St John’s Institute of Dermatology, St Thomas’ Hospital, London, with John McGrath. He then worked as a research associate with Ian Hart and subsequently as lecturer in Irene Leigh’s department at Bart’s and the London from 2002 to 2007. From 2007-2014, he was a lecturer, then senior lecturer at the University of Dundee. Currently he is an Associate Professor in the Department of Dermatology and Cutaneous Biology at Thomas Jefferson University, Philadelphia. He has authored over 90 peer reviewed articles on the subjects of genetic skin disease and squamous cell carcinoma. His research focuses on dissecting basic mechanisms implicated in the underlying pathogenesis of skin disorders such as recessive dystrophic epidermolysis bullosa and cutaneous squamous cell carcinoma (SCC). His recent studies deal with mutational burden and TGF-β signaling in the progression of cSCC, and with development of new therapeutic approaches for cSCC.

Selected publications
Cho RJ, Alexandrov LB, den Breems NY, Atanasova VS, Farshchian M, Purdom E, Nguyen TN, Coarfa C, Rajapakshe K, Prisco M, Sahu J, Tassone P, Greenawalt EJ, Collisson EA, Wu W, Yao H, Su X, Gruber C, Piñón Hofbauer J, Hashmi R, Fuentes I, Benz SC, Golovato J, Ehli EA, Davis CM, Davies GE, Covington KR, Murrell DF, Salas-Alanis JC, Palisson F, Bruckner AL, Robinson W, Has C, Bruckner-Tuderman L, Titeux M, Jonkman MF, Rashidghamat E, Lwin S, Mellerio J, McGrath JA, Bauer JW, Hovnanian A, Tsai KY, South AP. APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa. Sci Trans Med. 10(455). eaas9668. doi: 10.1126/scitranslmed.aas9668. PMID: 30135250

Atanasova VS, Pourreyron C, Farshchian M, Lawler M, Brown IV CA, Watt SA, Wright S, Warkala M, Guttmann-Gruber C, Piñón Hofbauer J, Fuentes I, Prisco M, Rashidghamat E, Has C, Salas-Alanis JC, Palisson F, Hovnanian A, McGrath JA, Mellerio JE, Bauer JW, South AP. Identification of rigosertib for the treatment of recessive dystrophic epidermolysis bullosa-associated squamous cell carcinoma. Clin Cancer Res March 7 2019 DOI:10.1158/1078-0432.CCR-18-2661. PMID: 30846478

Inman GJ, Wang J, Nagano A, Alexandrov LB, Purdie KJ, Sherwood V, Taylor R, South AP, Stratton M, Chelala C, Harwood CA, Proby CM, Leigh IM. The genomic landscape of cutaneous squamous cell carcinoma from immunosuppressed and immunocompetent patients reveals common drivers and a novel mutational signature associated with chronic azathioprine exposure. Nat. Commun. 2018 9(1):3667. doi: 10.1038/s41467-018-06027-1. PMID: 30202019

South AP, Purdie KJ, Watt SA, Haldenby S, den Breems N, Dimon M, Arron ST, Kluk MJ, Aster JC, McHugh A, Xue DJ, Dayal JHS, Robinson KS, Rizvi SMH, Proby CM, Harwood CA, Leigh IM. NOTCH1 mutations occur early during cutaneous squamous cell carcinogenesis. J Invest Dermatol. 2014 134(10): 2630-8.