Cheadle, Jeremy - Cardiff University

个人简介

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.

研究领域

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. More recently, 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, biomarker analyses/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 research is based on identifying germline and somatic variants that affect survival, response and toxicity to treatment of patients with advanced CRC.

近期论文

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Cheadle, J. P. 2017. Comprehensive pharmacogenetic profiling of the epidermal growth factor receptor pathway for biomarkers of response to, and toxicity from, cetuximab. Journal of Medical Genetics (10.1136/jmedgenet-2016-104317) pdf Summers, M.et al. 2016. BRAF and NRAS locus specific variants have different outcomes on survival to colorectal cancer. Clinical Cancer Research (10.1158/1078-0432.CCR-16-1541) pdf 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) pdf 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 (10.1093/hmg/ddw087) pdf Phipps, A.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) Cheng, 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.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, pp. 3453. (10.1158/1078-0432.CCR-14-3136) pdf Al-Tassan, N.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) pdf 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) pdf