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Professor Jeremy Cheadle


School of Medicine


Professor Cheadle has a long-standing international reputation in Medical Genetic research. He has worked on the genetics of Cystic Fibrosis, Huntington’s Disease, Rett’s Syndrome and Tuberous Sclerosis. In 2002, Cheadle (with Sampson), was responsible for the identification of the colorectal cancer (CRC) predisposition gene MUTYH (Al-Tassan et al. Nat Genet 2002, Jones et al. Hum Mol Genet 2002, Sampson et al. Lancet 2003) - this represented the first time that a defect in base excision repair had been associated with a human inherited disease. His group also has substantial expertise in identifying low (Azzopardi et al. Cancer Res 2008, Houlston et al. Nat Genet 2010, Dunlop et al. Nat Genet 2012) and moderate (Smith et al. JNCI 2013) penetrance CRC-susceptibility alleles, somatic mutation profiling (Maughan et al. Lancet 2011, Smith et al. Clin Can Res 2013) and next generation sequencing (Smith et al. Hum Mutat 2013). 

Current areas of interest include the identification of genetic biomarkers of (i) survival to CRC (Smith et al. Clin Can Res 2015, Summers et al. Eur J Cancer 2020), (ii) cetuximab efficacy (Madi et al. J Med Genet 2017), (iii) toxicity to chemotherapy (Madi et al. Eur J Cancer 2018) and (iv) oxaliplatin-induced peripheral neuropathy (West et al. JCO Precision Oncology 2018). Currently exploiting genome-wide association study and machine learning-based analyses to help identify further genetic biomarkers and understand their predictive utility. Also interested in studying our findings in a population based setting by exploiting data from the UK Biobank.

Funded by Tenovus Cancer Care, Cancer Research Wales and the School of Medicine.



































Book sections

  • Cheadle, J. P. 2010. MUTYH-associated polyposis. In: Rodriguez-Bigas, M. A. et al. eds. Hereditary Colorectal Cancer. M.D. Anderson Solid Tumor Oncology Series Vol. 5. New York: Springer, pp. 133-146.
  • Cheadle, J. P. 2009. MUTYH-associated colorectal polyposis and cancer. In: Schwab, M. ed. Encyclopedia of Cancer. 2nd ed. Springer
  • Tee, A., Sampson, J. R. and Cheadle, J. P. 2009. Tuberous sclerosis complex. In: Schwab, M. ed. Encyclopedia of Cancer. 2nd ed. Springer
  • Kwiatkowski, D., Reeve, M. P., Cheadle, J. P. and Sampson, J. R. 2003. Molecular genetics. In: Curatolo, P. ed. Tuberous Sclerosis Complex: From Basic Science to Clinical Phenotypes. International Review of Child Neurology (Mac Keith Press) Cambridge: Cambridge University Press, pp. 228-263.
  • Cheadle, J. P. and Sampson, J. 2003. Tuberous sclerosis: genetics. In: Cooper, D. N. ed. Encyclopedia of the Human Genome. London: Nature Publishing Group, pp. 650-656.
  • Cheadle, J. P. and Shaw, D. J. 1995. The cystic fibrosis gene: cloning and characterisation. In: Shaw, D. J. ed. Molecular genetics of human inherited disease. Chichester: Wiley, pp. 41-68.




Principal scientific achievements

  • Principal researcher in the molecular characterisation of 99.5% of Cystic Fibrosis chromosomes in Wales (1993).
  • Supporting researcher in determining the molecular basis of Huntington’s Disease (1993).
  • Principal researcher in the cloning of the Tuberous Sclerosis 1 (TSC1) gene (1997).
  • Senior investigator in the mutation analysis and genotype/phenotype studies of tuberous sclerosis (1997, 1999).
  • Lead investigator in identifying mutations in MECP2 and in determining genotype-phenotype relationships in Rett Syndrome (2000).
  • Senior investigator in determining the sensitivity and utility of dHPLC analysis for mutation detection (1999, 2000).
  • Principal investigator in determining the relationship between different APC genotypes and their growth advantages in colorectal tumours (2002).
  • Senior investigator in identifying a novel, high penetrance, colorectal cancer causing gene (MUTYH) (2002).
  • Senior investigator in identifying further MUTYH-associated polyposis (MAP) families and determining the mutational mechanism underlying MUTYH-associated tumourigenesis (2002).
  • Senior investigator in determining the phenotype and frequency of MAP (2003).
  • Senior investigator in the development and characterisation of a knockout mouse model for tuberous sclerosis (Tsc1) (2005).
  • Senior investigator in inducing renal tumourigenesis in Tsc1+/- mice with elevated levels of somatic LOH (to facilitate mapping of target genes) (2005).
  • Senior investigator demonstrating that Tsc1 haploinsufficiency without mTOR activation is sufficient for renal cyst formation in Tsc1+/- mice (2006).
  • Senior investigator demonstrating that multiple rare nonsynonymous variants in APC predispose to colorectal adenomas (2008).
  • Senior investigator demonstrating that defects in cell polarity underlie TSC and ADPKD associated cystogenesis (2009).
  • Senior investigator of a somatic biomarker-driven clinical trial of cetuximab efficacy in advanced colorectal cancer (2011).
  • Senior investigator demonstrating a role for OGG1 in colorectal tumourigenesis (2013).
  • Winner of the Medical Breakthrough Award for ground-breaking work (with Sampson) on “Identification of MUTYH, the first autosomal recessive colorectal cancer gene, improves management of familial bowel cancer” (2014).
  • Senior investigator demonstrating that common inherited genetic variants influence CRC-patient outcome (2015).
  • Senior investigator of a GWAS and meta-analyses leading to the identification of three novel CRC-risk loci (2015).
  • Senior investigator demonstrating that different somatic variants in BRAF and NRAS have differential effects on survival to colorectal cancer (2017).
  • Senior investigator for comprehensive pharmacogenetic profiling of the epidermal growth factor receptor pathway for biomarkers of cetuximab efficacy (2017).
  • Senior investigator for pharmacogenetic analyses of 2,183 patients with advanced colorectal cancer and demonstrating a role for common DPYD variants in toxicity to chemotherapy (2018).
  • Senior investigator demonstrating that nucleotide-excision repair gene variants play a causal role in oxaliplatin-induced peripheral neuropathy (2018).

Cheadle has close links with the All-Wales NHS Medical Genetics Service Laboratory. His laboratory has a strong track record in translating basic research into clinical practice in the NHS and internationally (developed diagnostic tests for MUTYH and tuberous sclerosis) which was highlighted in the Queens Anniversary Prize to the Institute of Medical Genetics in 2007/8 and recognised in the award of the Cardiff University 2014 Innovation & Impact Medical Breakthrough Prize (with Sampson), and in the 2010 UK REF Impact Pilot as one of five exemplars in UK medicine.

Patents filed - Screening methods and sequences relating thereto (MYH applications 1&2). Patent Number: WO03014390, Publication date: 2003-02-20, Inventors: Cheadle Jeremy Peter (GB); Sampson Julian Roy (GB), Applicants: Univ Wales Medicine (GB); Cheadle Jeremy Peter (GB); Sampson Julian Roy (GB), Application Number: WO2002GB03591 20020802, Priority Numbers: GB20010018995 20010803, IPC classification: C12Q1/68 – Licensed (exclusively) to Myriad Genetics in March 2004 (USA only).


Cheadle has successfully supervised seventeen Ph.D. students (thirteen as the principal supervisor), one MD student and eight industrial placement/intercalated B.Sc. project students, with a 100% completion record (listed below). Several of his successful Ph.D. students have gone on to post-doctoral positions at prestigious Institutions (e.g. Jones at Vogelstein’s laboratory at the John Hopkins Cancer Centre, Wilson at the Wellcome Trust Sanger Centre and, West and Smith at Cambridge University). He is currently an academic mentor to ten medical students.

Industrial placement and Intercalated B.Sc. students

  • 1996-1997: Maria Tachataki - 1st
  • 1997-1998: Meinir Thomas - 1st
  • 1998-1999: Amit Patel - 2:1
  • 1999-2000: Loukas Tzitzis - 2:1
  • 2000-2001: Emmanuel Antonarakis - 1st
  • 2001-2002: Paul Emmerson - 1st
  • 2002-2003: Sally Lambert - 1st
  • 2006-2007: Edward Rawstorne - 1st

M.D. students

  • 2011: Ayman Madi - Prinicipal supervisor

Ph.D. students

  • 2000: Alistair Jones - Principal supervisor
  • 2002: Lee Parry - Co-supervisor
  • 2003: Nada Al-Tassan - Principal supervisor
  • 2005: Sian Jones - Principal supervisor
  • 2006: Catherine Wilson - Principal supervisor
  • 2008: Natalie Jones - Co-supervisor
  • 2009: Cleo Bonnet - Principal supervisor
  • 2009: Duncan Azzopardi - Principal supervisor
  • 2011: Mark Davies - Co-supervisor
  • 2011: Christopher Smith - Principal supervisor
  • 2011: Mark Aldred - Principal supervisor
  • 2012: James Colley - Principal supervisor
  • 2013: Hannah West - Principal supervisor
  • 2015: Richard Webster - Co-supervisor
  • 2016: Michelle Coffey - Principal supervisor
  • 2016: Marc Naven - Principal supervisor
  • 2020: Matthew Summers - Principal supervisor

Current Ph.D. students

  • Victoria Gray - Principal supervisor
  • Christopher Wills - Principal supervisor
  • Katie Watts - Principal supervisor


Education and qualifications

  • 1987-1990: B.Sc. (Hons) Biochemistry with Applied Molecular Biology, University of Manchester Institute of Science and Technology (UMIST): 1st class.
  • 1990-1994: Ph.D., Medical Genetics, UWCM.

Career overview

  • 1994-1995: Post-doctoral Research Officer, UWCM.
  • 1995-2000: Non-clinical Lecturer, UWCM.
  • 2000-2005: Non-clinical Senior Lecturer, UWCM/CU.
  • 2005-Present: Professor of Medical Genetics, CU.

Honours and awards

  • 2014: Winner Cardiff University Innovation and Impact Medical Breakthrough Award.