Anne Bowcock is Professor and Chair in Cancer Genomics at Imperial College London. Professor Bowcock received her bachelor’s degree in Genetics and a Ph.D. in Genetics and Human Genetics, both from the University of the Witwatersrand, Johannesburg, South Africa in 1978 and 1984, respectively. During her tenure as postdoctoral fellow at Stanford University in Palo Alto, CA from 1984-90 she played a role in mapping loci for cystic fibrosis and the Wilson’s disease and used DNA markers to examine the relationship of human populations.
Prior to her current position, she held the following academic positions: Assistant/Associate Professor, Departments of Pediatrics and Internal Medicine and the McDermott Center for Human Growth and Development, University of Texas Southwest Medical Center (Dallas, TX, 1990-1999) and Professor in the Departments of Genetics, Pediatrics and Medicine, and Joint Director of the Division of Human Genetics, Washington University Medical Center (St. Louis, MO, 1999-2013). She has served on several professional committees, including the American Society of Human Genetics (ASHG) Human Genome Committee (01/93-06/95), where she also served as the Chairman of the ASGH subcommittee dealing with the diagnosis and treatment of breast cancer. As part of her tenure as the ASGH subcommittee, the ASHG published its Statement of The American Society of Human Genetics on Genetic Testing for Breast and Ovarian Cancer Predisposition in November 1994. She has also served as a standing member of three separate review panels for the U.S. National Institutes of Health (NIH).
Professor Bowcock was the first to use polymorphic human microsatellites to reconstruct human evolution (Nature, 1994). Her research subsequently focused on understanding the molecular genetics of human disease and cancer with genetics and genomics approaches. She was involved in the search for the BRCA1 and BRCA2 genes, and together with Dr. Richard Baer (Columbia University, NY, USA), identified partners of the early onset breast cancer gene BRCA1 (BRCA1 associated ring domain protein (BARD1) and its C-terminal interacting protein (CtIP)) through yeast two hybrid screens (Nature Genet.1998; J Biol Chem 1998). Her group was also the first to identify rare variants in BARD1 in gynecologic cancers (Hum Molec Genet 1998). She has also studied single gene disorders, mapping a gene for familial partial lipodystrophy (Nat. Genet. 1998) and the identification of a gene for paroxysmal kinesigenic dyskinesia with infantile convulsions (Cell Reports 2012). She and her collaborators recently identified two mutated genes associated with prognosis of eye cancer (BAP1), that is associated with metastasis (Science, 2010), and SF3B1 which is associated with good prognosis (Nat. Genet. 2013).
Professor Bowcock is an international leader in the identification of the genes underlying psoriasis (Science 1994), most recently discovering rare and common variants in CARD14 that lead to psoriasis and psoriatic arthritis (Am J Hum Genet 2012a/b). Through functional studies of CARD14 variants she was able to show that disease-causing mutations lead to enhanced activation of NF-kB, and many of the features of the inflammatory psoriatic skin. She has been involved in the identification of other psoriasis risk factors through collaborative Genome Wide Association Studies (GWAS, Plos Genet. 2008, Nature Genet. 2009a, 2009b, 2010a, 2010b, 2012). She has published well-cited reviews on psoriasis (Nature, 2007a; Nature Reviews Immunol. 2005 and others) and on copy number variation (Nature, 2007b). She has also been a pioneer in genomic analyses of psoriasis, being the first to analyze the psoriasis transcriptome (Hum Molec Genet 2001), and used NexGen sequencing to generate a comprehensive profile of all microRNAs and other small noncoding RNAs in psoriatic and normal skin (Hum Molec Genet 2011, 2013). She was the first to demonstrate that psoriatic skin exhibits CpG methylation differences (J Invest Dermatol 2011). She is now at a particularly exciting time in her research as she expands her molecular genetics studies on cancer and common inflammatory diseases of the skin and joints.
et al., 2017, Molecular profiling of colorectal pulmonary metastases and primary tumours: implications for targeted treatment, Oncotarget, Vol:8, ISSN:1949-2553, Pages:64999-65008
Anbunathan H, Bowcock AM, 2017, The Molecular Revolution in Cutaneous Biology: The Era of Genome-Wide Association Studies and Statistical, Big Data, and Computational Topics., J Invest Dermatol, Vol:137, Pages:e113-e118
et al., 2016, Epigenetic reprogramming and aberrant expression of PRAME are associated with increased metastatic risk in Class 1 and Class 2 uveal melanomas., Oncotarget, Vol:7, Pages:59209-59219
et al., 2016, Driver Mutations in Uveal Melanoma Associations With Gene Expression Profile and Patient Outcomes, Jama Ophthalmology, Vol:134, ISSN:2168-6165, Pages:728-733