Overview
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.
Publication
2023
- Wills, C. et al. 2023. Germline variation in RASAL2 may predict survival in patients with RAS-activated colorectal cancer. Genes Chromosomes and Cancer 62(6), pp. 332-341. (10.1002/gcc.23133)
- Wills, C. et al. 2023. Relationship between 233 colorectal cancer risk loci and survival in 1,926 patients with advanced disease. BJC Reports 1, article number: 2. (10.1038/s44276-023-00003-z)
- Wills, C. et al. 2023. Relationship between 233 colorectal cancer risk loci and survival in 1926 patients with advanced disease. BJC Reports 1(1), article number: 2. (10.1038/s44276-023-00003-z)
- Fernandez-Rozadilla, C. et al. 2023. Author Correction: Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries. Nature Genetics 55, pp. 519–520. (10.1038/s41588-023-01334-w)
2022
- Fernandez-Rozadilla, C. et al. 2022. Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and East Asian ancestries. Nature Genetics (10.1038/s41588-022-01222-9)
- Watts, K. et al. 2022. Genetic variation in ST6GAL1 is a determinant of capecitabine and oxaliplatin induced hand-foot syndrome. International Journal of Cancer 151(6), pp. 957-966. (10.1002/ijc.34046)
2021
- Wills, C. et al. 2021. Genome-wide search for determinants of survival in 1,926 patients with advanced colorectal cancer with follow-up in over 22,000 patients. European Journal Of Cancer 159, pp. 247-258. (10.1016/j.ejca.2021.09.047)
- Watts, K. et al. 2021. Genome-wide association studies of toxicity to oxaliplatin and fluoropyrimidine chemotherapy with or without cetuximab in 1800 patients with advanced colorectal cancer. International Journal of Cancer 149(9), pp. 1713-1722. (10.1002/ijc.33739)
- Culliford, R. et al. 2021. Lack of an association between gallstone disease and bilirubin levels with risk of colorectal cancer: A Mendelian randomisation analysis. British Journal of Cancer 124, pp. 1169-1174. (10.1038/s41416-020-01211-x)
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)
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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.
Conferences
- 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)
Patents
- Sampson, J. R. and Cheadle, J. P. 2008. Screening methods and sequences relating thereto. US7393940B2 [Patent].
Research
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).
Teaching
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
Biography
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.