Professor Jeremy Cheadle

Teams and roles for Jeremy Cheadle

Professor
School of Medicine

Professor Cheadle is a trailblazer in the field of medical genetics, distinguished for his extensive research and contributions to understanding hereditary diseases. With a career spanning several decades, he has earned an international reputation for his work on various genetic disorders including Cystic Fibrosis, Huntington’s Disease, Rett’s Syndrome, and Tuberous Sclerosis. His research has significantly advanced our understanding of these conditions, making a profound impact on both scientific and clinical communities (see Research tab).

One of Professor Cheadle's landmark achievements was the identification of the colorectal cancer (CRC) predisposition gene, MUTYH, in 2002. This groundbreaking discovery marked the first time a defect in base excision repair was linked to an inherited human disease, offering new insights into the genetic underpinnings of CRC. The identification of MUTYH has paved the way for further investigations into genetic susceptibility to cancer, allowing for better risk assessment and screening strategies world-wide. Professor Cheadle filed IPR for this work as an inventor and licenced it to Myriad Genetics (USA), which generated >£0.3M of royalty payments to Cardiff University.

Professor Cheadle's research expertise extends to identifying low penetrance CRC susceptibility alleles, highlighting the complexity of genetic factors involved in cancer predisposition. His work has been pivotal in the somatic mutation profiling of colorectal tumours and utilising next-generation sequencing technologies to enhance our understanding of cancer genetics. The implications of this work are far-reaching, contributing to the development of targeted therapies and personalised medicine approaches for cancer patients.

In recent years, Professor Cheadle has focused on the identification of genetic biomarkers related to CRC survival, chemotherapy efficacy, and treatment-related toxicities. This research is crucial for improving treatment outcomes and minimising adverse effects, ultimately enhancing the quality of life for cancer patients. This work has direct applications to the emerging theme of advanced therapeutics in Cardiff University. Professor Cheadle is currently investigating novel genes that predispose to colorectal polyposis and cancer, funded by Cancer Research Wales.

Professor Cheadle's dedication to research is matched by his commitment to education and mentorship. He fosters a dynamic learning environment for Ph.D. and medical students, encouraging critical thinking and innovative ideas. His approachable teaching style inspires students to engage deeply with the subject matter, equipping them with the knowledge and skills necessary for future careers in genetics and medicine. To-date, Professor Cheadle has successfully supervised twenty Ph.D. students (sixteen as the principal supervisor), one MD student and ten industrial placement/intercalated B.Sc. project students, with a 100% completion record (see Teaching tab). Several of his successful Ph.D. students have gone on to post-doctoral positions at prestigious Institutions (e.g. John Hopkins Cancer Centre & Wellcome Trust Sanger Centre).

Professor Cheadle has close links with the All-Wales NHS Medical Genetics Service Laboratory. His group 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.

The impact of Professor Cheadle's work is reflected in his numerous publications, which span a wide range of topics within medical and cancer genetics. He has contributed to over a hundred peer-reviewed articles, twelve of which have been published in top-tier journals (Nature Genetics, Lancet, Science).

Professor Cheadle regularly reviews grants for national and international bodies and is currently a Cancer Research UK Expert Review Panel member for both Early Detection and Diagnosis, and Prevention and Population Research grants. He is Chief Investigator of the UK national 'Mechanisms in Polyposis of the bowel' trial that is open to recuitment.

Date
Type

2020

Cornish, A. J. et al. 2020. Modifiable pathways for colorectal cancer: a mendelian randomisation analysis. Lancet Gastroenterology and Hepatology 5(1), pp. 55-62. (10.1016/S2468-1253(19)30294-8)
Summers, M. G., Maughan, T. S., Kaplan, R., Law, P. J., Houlston, R. S., Escott-Price, V. and Cheadle, J. P. 2020. Comprehensive analysis of colorectal cancer-risk loci and survival outcome: a prognostic role for CDH1 variants.. European Journal Of Cancer 124, pp. 56-63. (10.1016/j.ejca.2019.09.024)

2019

Gray, V. et al. 2019. Pattern recognition receptor polymorphisms as predictors of oxaliplatin benefit in colorectal cancer. JNCI: Journal of the National Cancer Institute 111(8), pp. 828-836. (10.1093/jnci/djy215)
Law, P. J. et al. 2019. Association analyses identify 31 new risk loci for colorectal cancer susceptibility. Nature Communications 10, article number: 2154. (10.1038/s41467-019-09775-w)

2018

West, H. et al. 2018. Role for nucleotide excision repair gene variants in oxaliplatin-induced peripheral neuropathy. JCO Precision Oncology 2, pp. 1-18. (10.1200/PO.18.00090)
Madi, A. et al. 2018. Common and rare DPYD variants are predictive for 5FU/capecitabine (5FU) toxicity: The MRC COIN and COIN-B trials. Presented at: 43rd ESMO Congress 2018, Munich, Germany, 19-23 October 2018, Vol. 29. Vol. Supple. Oxford University Press pp. VIII22., (10.1093/annonc/mdy269.072)
Madi, A. et al. 2018. Pharmacogenetic analyses of 2,183 patients with advanced colorectal cancer; Potential role for common dihydropyrimidine dehydrogenase variants in toxicity to chemotherapy.. European Journal of Cancer 102, pp. 31-39. (10.1016/j.ejca.2018.07.009)
Tanskanen, T. et al. 2018. Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci. International Journal of Cancer 142(3), pp. 540-546. (10.1002/ijc.31076)

2017

May-Wilson, S. et al. 2017. Pro-inflammatory fatty acid profile and colorectal cancer risk: a Mendelian randomisation analysis. European Journal of Cancer 84, pp. 228-238. (10.1016/j.ejca.2017.07.034)
Summers, M., Smith, C., Maughan, T., Kaplan, R., Escott-Price, V. and Cheadle, J. P. 2017. BRAF and NRAS locus-specific variants have different outcomes on survival to colorectal cancer. Clinical Cancer Research 23(11), pp. 2742-2749. (10.1158/1078-0432.CCR-16-1541)
Rodriguez-Broadbent, H. et al. 2017. Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer. International Journal of Cancer 140(12), pp. 2701-2708. (10.1002/ijc.30709)
Madi, A. et al. 2017. Comprehensive pharmacogenetic profiling of the epidermal growth factor receptor pathway for biomarkers of response to, and toxicity from, cetuximab. Journal of Medical Genetics 54(8), pp. 567-571. (10.1136/jmedgenet-2016-104317)
Seligmann, J. et al. 2017. Investigating the poor outcomes of BRAF-mutant advanced colorectal cancer: Analysis from 2530 patients in randomised clinical trials. Annals of Oncology 28(3), pp. 562-568. (10.1093/annonc/mdw645)

2016

Jarvis, D. et al. 2016. Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer. British Journal of Cancer 115, pp. 266-272. (10.1038/bjc.2016.188)
Orlando, G. et al. 2016. Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease. Human Molecular Genetics 25(11), pp. 2349-2359. (10.1093/hmg/ddw087)
Phipps, A. I. et al. 2016. Common genetic variation and survival after colorectal cancer diagnosis: a genome-wide analysis. Carcinogenesis 37(1), pp. 87-95. (10.1093/carcin/bgv161)

2015

Cheng, T. H. T. et al. 2015. Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. Scientific Reports 5, article number: 17369. (10.1038/srep17369)
Smith, C. G. et al. 2015. Analyses of 7,635 patients with colorectal cancer using independent training and validation cohorts show that rs9929218 in CDH1 is a prognostic marker of survival. Clinical Cancer Research 21(15), pp. 3453-3461. (10.1158/1078-0432.CCR-14-3136)
Al-Tassan, N. A. et al. 2015. A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer. Scientific Reports 5, article number: 10442. (10.1038/srep10442)

2014

Venderbosch, S. et al. 2014. Mismatch repair status and BRAF mutation status in metastatic colorectal cancer patients: a pooled analysis of the CAIRO, CAIRO2, COIN, and FOCUS studies. Clinical Cancer Research 20(20), pp. 5322-5330. (10.1158/1078-0432.CCR-14-0332)
Smith, C. G. et al. 2014. Response. Journal of the National Cancer Institute 106(5), pp. dju087. (10.1093/jnci/dju087)

2013

Smith, C. et al. 2013. Somatic profiling of the epidermal growth factor receptor pathway in tumors from patients with advanced colorectal cancer treated with chemotherapy ± cetuximab. Clinical Cancer Research 19(15), pp. 4104-4113. (10.1158/1078-0432.CCR-12-2581)
Smith, C. et al. 2013. Role of the oxidative DNA damage repair gene OGG1 in colorectal tumorigenesis. Journal of the National Cancer Institute 105(16), pp. 1249-1253. (10.1093/jnci/djt183)
Smith, C. et al. 2013. Exome resequencing identifies potential tumor-suppressor genes that predispose to colorectal cancer. Human Mutation 34(7), pp. 1026-1034. (10.1002/humu.22333)

2012

Dunlop, M. G. et al. 2012. Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk [Letter]. Nature Genetics 44(7), pp. 770-776. (10.1038/ng.2293)
Houlston, R. S., Cheadle, J. P. and Maughan, T. S. 2012. COGENT (COlorectal cancer GENeTics) revisited. Mutagenesis 27(2), pp. 143-151. (10.1093/mutage/ger059)

2011

Maughan, T. S. et al. 2011. Addition of cetuximab to oxaliplatin-based first-line combination chemotherapy for treatment of advanced colorectal cancer: results of the randomised phase 3 MRC COIN trial. The Lancet 377(9783), pp. 2103-2114. (10.1016/S0140-6736(11)60613-2)
Spain, S. L. et al. 2011. Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13. Human Molecular Genetics 21(4), pp. 934-946. (10.1093/hmg/ddr523)
Tomlinson, I. P. M. et al. 2011. Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer. PLoS Genetics 7(6), article number: e1002105. (10.1371/journal.pgen.1002105)

2010

Houlston, R. S. et al. 2010. Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33 [Letter]. Nature Genetics 42(11), pp. 973-977. (10.1038/ng.670)
Idziaszczyk, S. A., Wilson, C. H., Smith, C., Adams, D. J. and Cheadle, J. P. 2010. Analysis of the frequency of GNAS codon 201 mutations in advanced colorectal cancer [Letter]. Cancer Genetics and Cytogenetics 202(1), pp. 67-69. (10.1016/j.cancergencyto.2010.04.023)
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.

2009

Dallosso, A. R. et al. 2009. The APC Variant p.Glu1317Gln predisposes to colorectal adenomas by a novel mechanism of relaxing the target for tumorigenic somatic APC mutations. Human Mutation 30(10), pp. 1412-1418. (10.1002/humu.21089)
Bonnet, C., Aldred, M., Von Ruhland, C. J., Harris, R., Sandford, R. and Cheadle, J. P. 2009. Defects in cell polarity underlie TSC and ADPKD-associated cystogenesis. Human Molecular Genetics 18(12), pp. 2166-2176. (10.1093/hmg/ddp149)
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

2008

Sampson, J. R. and Cheadle, J. P. 2008. Screening methods and sequences relating thereto. US7393940B2 [Patent].
Azzopardi, D. L. et al. 2008. Multiple rare nonsynonymous variants in the 'adenomatous polyposis coli' gene predispose to colorectal adenomas. Cancer Research 68(2), pp. 358-363. (10.1158/0008-5472.CAN-07-5733)
Dallosso, A. R. et al. 2008. Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3. Gut 57(9), pp. 1252-1255. (10.1136/gut.2007.145748)
Payne, Y. et al. 2008. Carrier screening for cystic fibrosis in primary care: evaluation of a project in South Wales The South Wales Cystic Fibrosis Carrier Screening Research Team. Clinical Genetics 51(3), pp. 153-163. (10.1111/j.1399-0004.1997.tb02445.x)

2007

Goorden, S. M. I., van Woerden, G. M., van der Weerd, L., Cheadle, J. P. and Elgersma, Y. 2007. Cognitive deficits inTsc1+/-mice in the absence of cerebral lesions and seizures. Annals of Neurology 62(6), pp. 648-655. (10.1002/ana.21317)
Cheadle, J. P. and Sampson, J. R. 2007. MUTYH-associated polyposis - From defect in base excision repair to clinical genetic testing. DNA Repair 6(3), pp. 274-279. (10.1016/j.dnarep.2006.11.001)
Dolwani, S. et al. 2007. Analysis of inherited MYH (MUTYH) mutations in British Asian patients with colorectal cancer [Letter]. Gut 56(4), pp. 593. (10.1136/gut.2006.094532)

2006

Wilson, C. H. et al. 2006. Tsc1 Haploinsufficiency without Mammalian Target of Rapamycin Activation Is Sufficient for Renal Cyst Formation in Tsc1+/- Mice. Cancer Research 66(16), pp. 7934-8. (10.1158/0008-5472.CAN-06-1740)

2005

Wilson, C. H. et al. 2005. Induction of renal tumorigenesis with elevated levels of somatic loss of heterozygosity in Tsc1+/- mice on a Blm-deficient background. Cancer Research 65(22), pp. 10179-10182. (10.1158/0008-5472.CAN-05-2688)
Colley, J. et al. 2005. Rapid recognition of aberrant dHPLC elution profiles using the Transgenomic NavigatorTM software. Human Mutation 26(2), pp. 165. (10.1002/humu.9354)
Wilson, C. H. et al. 2005. A mouse model of tuberous sclerosis 1 showing background specific early post-natal mortality and metastatic renal cell carcinoma. Human Molecular Genetics 14(13), pp. 1839-1850. (10.1093/hmg/ddi190)
Sampson, J. R., Jones, S., Dolwani, S. and Cheadle, J. P. 2005. MutYH (MYH) and colorectal cancer. Biochemical Society Transactions 33(4), pp. 679-683. (10.1042/BST0330679)
Bai, H., Jones, S., Guan, X., Wilson, T. M., Sampson, J. R., Cheadle, J. P. and Lu, A. 2005. Functional characterization of two human MutY homolog (hMYH) missense mutations (R227W and V232F) that lie within the putative hMSH6 binding domain and are associated with hMYH polyposis. Nucleic Acids Research 33(2), pp. 597-604. (10.1093/nar/gki209)

2004

Fleischmann, C., Peto, J., Cheadle, J. P., Shah, B., Sampson, J. R. and Houlston, R. S. 2004. Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer. International Journal of Cancer 109(4), pp. 554-558. (10.1002/ijc.20020)
Jones, S., Lambert, S., Williams, G. T., Best, J. M., Sampson, J. R. and Cheadle, J. P. 2004. Increased frequency of the k-ras G12C mutation in MYH polyposis colorectal adenomas. British Journal of Cancer 90(8), pp. 1591-1593. (10.1038/sj.bjc.6601747)
Al-Tassan, N. et al. 2004. Inherited variants in MYH are unlikely to contribute to the risk of lung carcinoma. Human Genetics 114(2), pp. 207-210. (10.1007/s00439-003-1033-2)

2003

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. R. 2003. Exposing the MYtH about base excision repair and human inherited disease. Human Molecular Genetics 12(s2), pp. R159-R165. (10.1093/hmg/ddg259)
Sampson, J. R. et al. 2003. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. The Lancet 362(9377), pp. 39-41. (10.1016/S0140-6736(03)13805-6)
Gill, H. et al. 2003. Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome. Journal of Medical Genetics 40(5), pp. 380-384. (10.1136/jmg.40.5.380)
Cheadle, J. P., Dolwani, S. and Sampson, J. R. 2003. Inherited defects in the DNA glycosylase MYH cause multiple colorectal adenoma and carcinoma [Letter]. Carcinogenesis 24(7), pp. 1281-1282. (10.1093/carcin/bgg068)
Emmerson, P., Maynard, J. H., Jones, S., Butler, R., Sampson, J. R. and Cheadle, J. P. 2003. Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes. Human Mutation 21(2), pp. 112-115. (10.1002/humu.10159)
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.

2002

Jones, S. et al. 2002. Biallelic germline mutations in MYH predispose to multiple colorectal ademona and somatic G:C to T:A mutations. Human Molecular Genetics 11(23), pp. 2961-2967. (10.1093/hmg/11.23.2961)
Al-Tassan, N. et al. 2002. Inherited variants of MYH associated with somatic G:C to T:A mutations in colorectal tumors. Nature Genetics 30(2), pp. 227-32. (10.1038/ng828)
Cheadle, J. P., Krawczak, M., Thomas, M. W., Hodges, A. K., Al-Tassan, N., Fleming, N. and Sampson, J. R. 2002. Different combinations of biallelic APC mutation confer different growth advantages in colorectal tumours. Cancer Research 62, pp. 363-366.
Cheadle, J. P., Krawczak, M., Thomas, M. W., Hodges, A. K., Al-Tassan, N., Fleming, N. and Sampson, J. R. 2002. Different combinations of biallelic APC mutation confer different growth advantages in colorectal tumours. Cancer Research 62(2), pp. 363-366.
Antonarakis, E. S., Sampson, J. R. and Cheadle, J. P. 2002. Temperature modulation of DHPLC analysis for detection of coexisting constitutional and mosaic sequence variants in TSC2. Journal of Biochemical and Biophysical Methods 51(2), pp. 161-164. (10.1016/S0165-022X(02)00011-8)

2001

Hodges, A. K. et al. 2001. Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin. Human Molecular Genetics 10(25), pp. 2899-9205. (10.1093/hmg/10.25.2899)
Parry, L. et al. 2001. Analysis of the TSC1 and TSC2 genes in sporadic renal cell carcinomas. British Journal of Cancer 85, pp. 1226-1230. (10.1054/bjoc.2001.2072)
Soucek, T., Rosner, M., Miloloza, A., Kubista, M., Cheadle, J. P., Sampson, J. R. and Hengstschläger, M. 2001. Tuberous sclerosis causing mutants of the TSC2 gene product affect proliferation and p27 expression. Oncogene 20(35), pp. 4904-4909.
Jones, A. C., Sampson, J. R. and Cheadle, J. P. 2001. Low level mosaicism detectable by DHPLC but not by direct sequencing. Human Mutation 17(3), pp. 233-234. (10.1002/humu.8)
Fleming, N., Maynard, J. H., Tzitzis, L., Sampson, J. R. and Cheadle, J. P. 2001. LD-PCR coupled to long-read direct sequencing: an approach for mutation detection in genes with compact genomic structures. Journal of Biochemical and Biophysical Methods 47(1-2), pp. 131-136. (10.1016/S0165-022X(00)00159-7)

2000

Benvenuto, G. et al. 2000. The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination. Oncogene 19(54), pp. 6306-6316. (10.1038/sj.onc.1204009)
Cheadle, J. P., Dobbie, L., Idziaszczyk, S., Hodges, A. K., Smith, A. J., Sampson, J. R. and Young, J. 2000. Genomic organization and comparative analysis of the mouse tuberous sclerosis 1 (Tsc1) locus. Mammalian Genome 11(12), pp. 1135-1138. (10.1007/s003350010203)
Lamlum, H. et al. 2000. Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q. Human Molecular Genetics 9(15), pp. 2215-2221.
Cheadle, J. P., Reeve, M. P., Sampson, J. R. and Kwiatkowski, D. J. 2000. Molecular genetic advances in tuberous sclerosis. Human Genetics 107(2), pp. 97-114. (10.1007/s004390000348)
Jones, A. C., Sampson, J. R., Hoogendoorn, B., Cohen, D. and Cheadle, J. P. 2000. Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis. Human Genetics 106(6), pp. 663-668. (10.1007/s004390000316)
Parry, L., Maynard, J. H., Patel, A., Hodges, A., von Deimling, A., Sampson, J. R. and Cheadle, J. P. 2000. Molecular analysis of the TSC1 and TSC2 tumour suppressor genes in sporadic glial and glioneuronal tumours. Human Genetics 107(4), pp. 350-356. (10.1007/s004390000390)
Cheadle, J. P. et al. 2000. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Human Molecular Genetics 9(7), pp. 1119-1129. (10.1093/hmg/9.7.1119)

1999

Jones, A. C., Austin, J., Hansen, N., Hoogendoorn, B., Oefner, P. J., Cheadle, J. P. and O'Donovan, M. C. 1999. Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis. Clinical Chemistry 45(8), pp. 1133-1140.
Jones, A. C. et al. 1999. Comprehensive mutation analysis of TSC1 and TSC2 - and phenotypic correlations in 150 families with tuberous sclerosis. American Journal of Human Genetics 64(5), pp. 1305-1315. (10.1086/302381)

1998

van Slegtenhorst, M. et al. 1998. Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. Human Molecular Genetics 7(6), pp. 1053-1057. (10.1093/hmg/7.6.1053)

1997

Jones, A. C. et al. 1997. Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. Human Molecular Genetics 6(12), pp. 2155-2161. (10.1093/hmg/6.12.2155)
Sampson, J. R. et al. 1997. Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene. American Journal of Human Genetics 61(4), pp. 843-851. (10.1086/514888)
Maheshwar, M. M., Cheadle, J. P., Jones, A. C., Myring, J., Fryer, A. E., Harris, P. C. and Sampson, J. R. 1997. The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis. Human Molecular Genetics 6(11), pp. 1991-1996. (10.1093/hmg/6.11.1991)
Kobayashi, T., Urakami, S., Cheadle, J. P., Aspinwall, R., Harris, P., Sampson, J. R. and Hino, O. 1997. Identification of a leader exon and a core promoter for the rat tuberous sclerosis 2 (Tsc2) gene and structural comparison with the human homolog. Mammalian Genome 8(8), pp. 554-558. (10.1007/s003359900502)
van Slegtenhorst, M. et al. 1997. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 277(5327), pp. 805-808. (10.1126/science.277.5327.805)
Aspinwall, R. et al. 1997. Cloning and characterization of a functional human homolog of Escherichia coli endonuclease III. Proceedings of the National Academy of Sciences of the United States of America 94(1), pp. 109-114.

1996

Maheshwar, M. M., Sandford, R., Nellist, M., Cheadle, J. P., Sgotto, B., Vaudin, M. and Sampson, J. R. 1996. Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish. Human Molecular Genetics 5(1), pp. 131-137. (10.1093/hmg/5.1.131)

1995

Cheadle, J. P., Meredith, A. L., Millar-Jones, L. and Goodchild, M. C. 1995. Two CF patients, one homozygous for the 621 + 1G>T splice mutation, the other homozygous for the 1898 + 1G>A splice mutation [Letter]. Journal of Medical Genetics 32(2), pp. 158-158. (10.1136/jmg.32.2.158)
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.
Schwarz, M. J. et al. 1995. Cystic fibrosis mutation analysis: Report from 22 U.K. regional genetics laboratories. Human Mutation 6(4), pp. 326-333. (10.1002/humu.1380060406)

1994

James, C., Houlihan, G. D., Snell, R. G., Cheadle, J. P. and Harper, P. S. 1994. Late-onset Huntington's Disease: a clinical and molecular study. Age and Ageing 23(6), pp. 445-448. (10.1093/ageing/23.6.445)
Cheadle, J. P., Belloni, E., Ferrari, M., Millar-Jones, L. and Meredith, A. L. 1994. A novel mutation (M1V) in the translation initiation codon of the cystic fibrosis transmembrane conductance regulator gene, in three CF chromosomes of Italian origin. Human Molecular Genetics 3(8), pp. 1431-1432. (10.1093/hmg/3.8.1431)
Cheadle, J. P. 1994. Population variation of common cystic fibrosis mutations. Human Mutation 4(3), pp. 167-177. (10.1002/humu.1380040302)

1993

Cheadle, J. P., AI-Jader, L. N. and Meredith, A. L. 1993. Two novel frame-shift mutations: 977 insA in exon 6B, and 4016 insT in exon 21, of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Human Molecular Genetics 2(3), pp. 317-319. (10.1093/hmg/2.3.317)
MacMillan, J. C. et al. 1993. Molecular analysis and clinical correlations of the Huntington's disease mutation. The Lancet 342(8877), pp. 954-958. (10.1016/0140-6736(93)92002-B)
Cheadle, J. P., Goodchild, M. C. and Meredith, A. L. 1993. Direct sequencing of the complete CFTR gene: the molecular characterisation of 99.5% of CF chromosomes in Wales. Human Molecular Genetics 2(10), pp. 1551-1556. (10.1093/hmg/2.10.1551)
Snell, R. G. et al. 1993. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nature Genetics 4(4), pp. 393-397. (10.1038/ng0893-393)
Cheadle, J. P., Al-Jader, L. N. and Meredith, A. L. 1993. A novel nonsense mutation, W846XI (amber termination), in exon 14a of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Human Molecular Genetics 2(7), pp. 1067-1068. (10.1093/hmg/2.7.1067)

1992

al-Jader, L. N. et al. 1992. Severity of chest disease in cystic fibrosis patients in relation to their genotypes. Journal of Medical Genetics 29(12), pp. 883-887. (10.1136/jmg.29.12.883)
Cheadle, J. P., Myring, J., al-Jader, L. and Meredith, L. 1992. Mutation analysis of 184 cystic fibrosis families in Wales. Journal of Medical Genetics 29(9), pp. 642-646. (10.1136/jmg.29.9.642)
Cheadle, J. P., al-Jader, L. N., Goodchild, M. and Meredith, A. L. 1992. Mild pulmonary disease in a cystic fibrosis child homozygous for R553X. Journal of Medical Genetics 29(8), pp. 597-597. (10.1136/jmg.29.8.597)

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).
Senior investigator identifying genetic biomarkers of toxicity to chemotherapy (Watts et al. IJC 2021, IJC 2022).
Senior investigator identifying genetic biomarkers of survival to CRC (Summers et al. Eur J Cancer 2020 & Wills et al. EJC 2021, GCC 2023 & Sci Rep 2025).

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). Royalties generated for Cardiff University in excess of £0.3M.

Current teaching responsibilities in MEDIC

Academic tutor to twelve medical students
Contibute to Yr.1 PCS tutorials
Run a Yr.1 SSC literature review
Run 2x week-long Yr.2 SSC bioinformatic-based projects introducing cancer genetics
Regularly run Yr.3 & 4 SSC bioinformatic-based projects
Contribute to the Genomic Medicine course
Interviewer for MMIs

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
2023-2024: Katie Spiller
2023-2024: Lauren Revill

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
2022: Victoria Gray - Principal supervisor
2023: Christopher Wills - Principal supervisor
2023: Katie Watts - Principal supervisor

Current Ph.D. students & visiting scholars

Amy Houseman - Principal supervisor
Megan Cheadle - 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, University of Wales College of Medicine (UWCM).

Career overview

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

Honours and awards

2014: Winner Cardiff University Innovation and Impact Medical Breakthrough Award.
2017: Represented Cardiff University at King Saud University with other Gulf countries, sponsored by the British Council.

Contact Details

cheadlejp@cardiff.ac.uk
+44 29 2251 5401
Sir Geraint Evans Cardiovascular Research Building, Room 1/28, University Hospital of Wales, Heath Park, Cardiff, CF14 4XN

Professor Jeremy Cheadle

Teams and roles for Jeremy Cheadle

Professor

Overview

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2021