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The William Harvey Research Institute - Barts and The London

Professor Clare Turnbull


Professor of Genomic Medicine | Clinical Lead for Cancer Genomics for 100,000 Genomes Project

Centre: Clinical Pharmacology

Telephone: +44(0) 20 7882 6393


Clare Turnbull is an academic clinician in the field of cancer susceptibility genomics, leading research teams at both Queen Mary University of London and the Institute of Cancer Research, London (Sutton). Her research to date has focused primarily upon identification and characterisation of genomic factors related to cancer susceptibility.  She has lead the largest recruitment study of testicular germ cell tumour (TGCT) in the world and her group has identified the majority of common and rare susceptibility variants for TGCT.  She has also published extensively in genetic susceptibility to breast, ovarian and childhood cancers, including identification of RAD51D and RAD51C as susceptibility genes for ovarian cancer.  More recent projects relate to population, health-economic and public-health-related analyses around implementation of expanded genomic testing for clinical care.  She is Clinical Lead for Cancer Genomics for the Genomics England 100,000 Genomes Project and has led activity for NHS England around national approaches to delivery of secondary findings, germline findings in cancer and national policies for cancer germline testing.  She is employed as an honorary consultant for Public Health England, who are currently centralising all existing national data from NHS testing of cancer susceptibility genes across the UK.


Clare undertook her preclinical training in Cambridge and qualified in medicine from Oxford University.  She completed a PhD in Genetic Epidemiology and Molecular Genetics at the Institute of Cancer Research, London and a Masters degree in Epidemiology and Statistics at the London School of Hygiene.  She is a member by distinction of the Faculty of Public Health Medicine. 

Clinical Work

She undertook general medical training across hospitals in Oxford and London and specialist training in Clinical Genetics in London. Her clinical work at Guys and St Thomas NHS Foundation Trust and Barts Health NHS Trust focuses on management of patients and families with genetic susceptibility to cancer.

Key Publications

For a full list of publications click here

  • Turnbull, C. & Houlston, R. Cancer genetics, precision prevention and a call to arms (Invited Perspective). Nat Genet (in press) (2018).
  • Loveday, C., Josephs, K., Chubb, D., Gunning, A., Izatt, L., Tischkovitz, M., Ellard, S. & Turnbull, C. p.Val804Met, the most frequent pathogenic mutation in RET, confers a very low lifetime risk of medullary thyroid cancer. J Clin Endocrinol Metab (2018).
  • Turnbull, C., Scott, R.H., Thomas, E., Jones, L., Murugaesu, N., Pretty, F.B., Halai, D., Baple, E., Craig, C., Hamblin, A., Henderson, S., Patch, C., O'Neill, A., Devereaux, A., Smith, K., Martin, A.R., Sosinsky, A., McDonagh, E.M., Sultana, R., Mueller, M., Smedley, D., Toms, A., Dinh, L., Fowler, T., Bale, M., Hubbard, T., Rendon, A., Hill, S. & Caulfield, M.J. The 100 000 Genomes Project: bringing whole genome sequencing to the NHS. BMJ 361, k1687 (2018). 
  • Turnbull, C. Introducing Whole Genome Sequencing into routine cancer care: The Genomics England 100,000 Genomes project. Ann Oncol (2018). 
  • Manchanda, R., Blyuss, O., Gaba, F., Gordeev, V.S., Jacobs, C., Burnell, M., Gan, C., Taylor, R., Turnbull, C., Legood, R., Zaikin, A., Antoniou, A.C., Menon, U. & Jacobs, I. Current detection rates and time-to-detection of all identifiable BRCA carriers in the Greater London population. J Med Genet (2018). 
  • Manchanda, R., Patel, S., Gordeev, V.S., Antoniou, A.C., Smith, S., Lee, A., Hopper, J.L., MacInnis, R.J., Turnbull, C., Ramus, S.J., Gayther, S.A., Pharoah, P.D.P., Menon, U., Jacobs, I. & Legood, R. Cost-effectiveness of Population-Based BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2 Mutation Testing in Unselected General Population Women. J Natl Cancer Inst (2018).
  • Patel, S., Legood, R., Evans, D.G., Turnbull, C., Antoniou, A.C., Menon, U., Jacobs, I. & Manchanda, R. Cost effectiveness of population based BRCA1 founder mutation testing in Sephardi Jewish women. Am J Obstet Gynecol 218, 431.e1-431.e12 (2018).
  • Taylor, A., Brady, A.F., Frayling, I.M., Hanson, H., Tischkowitz, M., Turnbull, C. & Side, L. Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group. J Med Genet (2018). 
  • Loveday, C., Law, P., ….. Houlston, R. & Turnbull, C. Large-scale Analysis Demonstrates Familial Testicular Cancer to have Polygenic Aetiology. European Urology (2018).
  • Litchfield, K., Levy, M., Orlando, G., Loveday, C., Law, P.J., Migliorini, G., Holroyd, A., Broderick, P., Karlsson, R., Haugen, T.B., Kristiansen, W., Nsengimana, J., Fenwick, K., Assiotis, I., Kote-Jarai, Z., Dunning, A.M., Muir, K., Peto, J., Eeles, R., Easton, D.F., Dudakia, D., Orr, N., Pashayan, N., Bishop, D.T., Reid, A., Huddart, R.A., Shipley, J., Grotmol, T., Wiklund, F., Houlston, R.S. & Turnbull, C. Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor. Nat Genet 49, 1133-1140 (2017).
  • Manchanda, R., Patel, S., Antoniou, A.C., Levy-Lahad, E., Turnbull, C., Evans, D.G., Hopper, J.L., Macinnis, R.J., Menon, U., Jacobs, I. & Legood, R. Cost-effectiveness of population based BRCA testing with varying Ashkenazi Jewish ancestry. Am J Obstet Gynecol 217, 578.e1-578.e12 (2017). 
  • Wang, Z., McGlynn, K.A., ….Turnbull, C., …..Kanetsky, P.A. & Nathanson, K.L. Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor. Nat Genet 49, 1141-1147 (2017).
  • Litchfield, K., Levy, M., Dudakia, D., Proszek, P., Shipley, C., Basten, S., Rapley, E., Bishop, D. T., Reid, A., Huddart, R., Broderick, P., Gonzalez de Castro, D., O'Connor, S., Giles, R. H., Houlston, R. S.,Turnbull, C. (2016). "Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility." Nature communications 20: 7.
  • Taylor-Weiner, A., Zack, T., O'Donnell, E., Guerriero, J. L., Bernard, B., Reddy, A., Han, G. C., AlDubayan, S., Amin-Mansour, A., Schumacher, S. E., Litchfield, K., Turnbull, C., Gabriel, S., Beroukhim, R., Getz, G., Carter, S. L., Hirsch, M. S., Letai, A., Sweeney, C.,Van Allen, E. M. (2016). "Genomic evolution and chemoresistance in germ-cell tumours." Nature 540(7631): 114-118. 
  • Foulkes, W. D., Knoppers, B. M.,Turnbull, C. (2016). "Population genetic testing for cancer susceptibility: founder mutations to genomes." Nat Rev Clin Oncol 13(1): 41-54.
  • Slade, I., Riddell, D., Turnbull, C., Hanson, H.,Rahman, N. (2015). "Development of cancer genetic services in the UK: A national consultation." Genome medicine 7(1): 18.
  • Antoniou, A. C., Casadei, S., …. Turnbull, C., …. Foulkes, W. D.,Tischkowitz, M. (2014). "Breast-cancer risk in families with mutations in PALB2." The New England journal of medicine 371(6): 497-506.
  • Ruark, E., Seal, S., McDonald, H., Zhang, F., Elliot, A., Lau, K., Perdeaux, E., Rapley, E., Eeles, R., Peto, J., Kote-Jarai, Z., Muir, K., Nsengimana, J., Shipley, J., Bishop, D. T., Stratton, M. R., Easton, D. F., Huddart, R. A., Rahman, N.,Turnbull, C. (2013). "Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14." Nature genetics 45(6): 686-689. 
  • Ruark, E., Snape, K., ….. Turnbull, C ….Donnelly, P.,Rahman, N. (2013). "Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer." Nature 493(7432): 406-410.