Ian Tomlinson

Summary

Affiliation: University of Oxford
Country: UK

Publications

  1. pmc The Mendelian colorectal cancer syndromes
    Ian Tomlinson
    Molecular and Population Genetics Laboratory and Oxford NIHR Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Ann Clin Biochem 52:690-2. 2015
  2. pmc Polymorphisms near TBX5 and GDF7 are associated with increased risk for Barrett's esophagus
    Claire Palles
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK Electronic address
    Gastroenterology 148:367-78. 2015
  3. pmc Replicative DNA polymerase mutations in cancer
    Ellen Heitzer
    Institute of Human Genetics, Medical University of Graz, Harrachgasse 21 8, A 8010 Graz, Austria Electronic address
    Curr Opin Genet Dev 24:107-13. 2014
  4. pmc Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13
    Sarah L Spain
    Nuffield Department of Clinical Medicine, University of Oxford, Oxford OX3 7BN, UK
    Hum Mol Genet 21:934-46. 2012
  5. pmc TERC polymorphisms are associated both with susceptibility to colorectal cancer and with longer telomeres
    A M Jones
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Gut 61:248-54. 2012
  6. pmc Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer
    Ian P M Tomlinson
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    PLoS Genet 7:e1002105. 2011
  7. pmc A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12
    Ceres Fernández-Rozadilla
    Galician Public Fundation of Genomic Medicine FPGMX Grupo de Medicina Xenómica Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERer IDIS, Santiago de Compostela, 15706, Spain
    BMC Genomics 14:55. 2013
  8. pmc Investigation of the effects of DNA repair gene polymorphisms on the risk of colorectal cancer
    Ian P M Tomlinson
    Molecular and Population Genetics Laboratory and Oxford NIHR Comprehensive Biomedical Research Centre, Nuffield Department of Clinical Medicine, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
    Mutagenesis 27:219-23. 2012
  9. pmc Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci
    Iina Niittymäki
    Department of Medical Genetics, Genome Scale Biology Research Program, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    BMC Med Genet 12:23. 2011
  10. pmc Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
    Claire Palles
    Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Nat Genet 45:136-44. 2013

Detail Information

Publications53

  1. pmc The Mendelian colorectal cancer syndromes
    Ian Tomlinson
    Molecular and Population Genetics Laboratory and Oxford NIHR Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Ann Clin Biochem 52:690-2. 2015
    ..Additional Mendelian CRC genes may remain to be discovered and searches for these genes are ongoing, especially in patients with multiple adenomas and hyperplastic polyps. ..
  2. pmc Polymorphisms near TBX5 and GDF7 are associated with increased risk for Barrett's esophagus
    Claire Palles
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK Electronic address
    Gastroenterology 148:367-78. 2015
    ..We aimed to identify further SNPs that increased BE risk and to validate previously reported associations...
  3. pmc Replicative DNA polymerase mutations in cancer
    Ellen Heitzer
    Institute of Human Genetics, Medical University of Graz, Harrachgasse 21 8, A 8010 Graz, Austria Electronic address
    Curr Opin Genet Dev 24:107-13. 2014
    ..Moreover, somatic EDMs in POLE have also been found in sporadic colorectal and endometrial cancers. Tumors with EDMs are microsatellite stable and show an 'ultramutator' phenotype, with a dramatic increase in base substitutions. ..
  4. pmc Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13
    Sarah L Spain
    Nuffield Department of Clinical Medicine, University of Oxford, Oxford OX3 7BN, UK
    Hum Mol Genet 21:934-46. 2012
    ..Post-GWAS fine-mapping studies are challenging, but the use of multiple tools can assist in identifying candidate functional variants in at least some cases...
  5. pmc TERC polymorphisms are associated both with susceptibility to colorectal cancer and with longer telomeres
    A M Jones
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Gut 61:248-54. 2012
    ..Shorter telomeres have been associated with increased risk of malignancy, including colorectal cancer (CRC). Telomere length is heritable and may be an intermediate phenotype linked to genetic susceptibility to CRC...
  6. pmc Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer
    Ian P M Tomlinson
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    PLoS Genet 7:e1002105. 2011
    ....
  7. pmc A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12
    Ceres Fernández-Rozadilla
    Galician Public Fundation of Genomic Medicine FPGMX Grupo de Medicina Xenómica Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERer IDIS, Santiago de Compostela, 15706, Spain
    BMC Genomics 14:55. 2013
    ..Nevertheless, these have only been able to explain part of the missing heritability. Moreover, these signals have only been inspected in populations of Northern European origin...
  8. pmc Investigation of the effects of DNA repair gene polymorphisms on the risk of colorectal cancer
    Ian P M Tomlinson
    Molecular and Population Genetics Laboratory and Oxford NIHR Comprehensive Biomedical Research Centre, Nuffield Department of Clinical Medicine, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
    Mutagenesis 27:219-23. 2012
    ..It will be particularly intriguing to determine whether any GWAS across cancer types identify DNA variants that predispose to cancers of more than one site...
  9. pmc Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci
    Iina Niittymäki
    Department of Medical Genetics, Genome Scale Biology Research Program, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    BMC Med Genet 12:23. 2011
    ....
  10. pmc Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
    Claire Palles
    Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Nat Genet 45:136-44. 2013
    ..Further analysis of published data showed that the recently described group of hypermutant, microsatellite-stable CRCs is likely to be caused by somatic POLE mutations affecting the exonuclease domain...
  11. ncbi request reprint Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk
    Emma Jaeger
    Molecular and Population Genetics Laboratory, Cancer Research UK, London WC2A 3PX, UK
    Nat Genet 40:26-8. 2008
    ..In a large series of colorectal cancer cases and controls, SNPs near GREM1 and SCG5 were strongly associated with increased CRC risk (for rs4779584, P = 4.44 x 10(-14))...
  12. pmc The C-terminus of Apc does not influence intestinal adenoma development or progression
    Annabelle Lewis
    Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    J Pathol 226:73-83. 2012
    ..We conclude that the C-terminus of APC does not influence intestinal adenoma development or progression...
  13. doi request reprint Colorectal cancer risk is not associated with increased levels of homozygosity in a population from the United Kingdom
    Sarah L Spain
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Cancer Res 69:7422-9. 2009
    ..In conclusion, our results from a large case-control series do not replicate those of previous studies and suggest that homozygosity/autozygosity is not a major risk factor for CRC in an outbred population...
  14. pmc A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS
    Dan Rosmarin
    Molecular and Population Genetics Laboratory, Oxford, UK Department of Oncology, University of Oxford, Old Road Campus Research Building, Oxford, UK
    Gut 64:111-20. 2015
    ..The few proven genetic biomarkers of 5-FU toxicity are rare variants and polymorphisms, respectively, at candidate loci dihydropyrimidine dehydrogenase (DPYD) and thymidylate synthase (TYMS)...
  15. pmc Comprehensive assessment of variation at the transforming growth factor beta type 1 receptor locus and colorectal cancer predisposition
    Luis G Carvajal-Carmona
    Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, United Kingdom
    Proc Natl Acad Sci U S A 107:7858-62. 2010
    ..We conclude that neither genetic variation nor ASE at TGFBR1 is likely to be a major CRC risk factor...
  16. pmc Investigation of the atypical FBXW7 mutation spectrum in human tumours by conditional expression of a heterozygous propellor tip missense allele in the mouse intestines
    Hayley Davis
    Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, Oxford University, Oxford, UK
    Gut 63:792-9. 2014
    ..Some tumours have biallelic loss of function mutations but most have monoallelic missense mutations involving specific arginine residues at β-propellor tips involved in substrate recognition...
  17. doi request reprint 'Toxgnostics': an unmet need in cancer medicine
    David Church
    1 Oxford Cancer Centre, Department of Oncology, University of Oxford, Churchill Hospital, Old Road, Headington, Oxford, OX3 7LE, UK 2 Molecular and Population Genetics Laboratory, The Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK
    Nat Rev Cancer 14:440-5. 2014
    ..Thus, we propose the new science of 'toxgnostics' (that is, the systematic, agnostic study of genetic predictors of toxicity from anticancer therapy). ..
  18. pmc Much of the genetic risk of colorectal cancer is likely to be mediated through susceptibility to adenomas
    Luis G Carvajal-Carmona
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Gastroenterology 144:53-5. 2013
    ..Genetic susceptibility to CRC in the general population is likely to be mediated in part by predisposition to adenomas...
  19. ncbi request reprint A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21
    Ian Tomlinson
    Molecular and Population Genetics Laboratory, Cancer Research UK, London WC2A 3PX, UK
    Nat Genet 39:984-8. 2007
    ..21, 95% c.i.: 1.10-1.34; P = 6.89 x 10(-5)). These data show that common, low-penetrance susceptibility alleles predispose to colorectal neoplasia...
  20. pmc Aberrant epithelial GREM1 expression initiates colonic tumorigenesis from cells outside the stem cell niche
    Hayley Davis
    Gastrointestinal Stem Cell Biology Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Nat Med 21:62-70. 2015
    ....
  21. pmc FBXW7 mutations typically found in human cancers are distinct from null alleles and disrupt lung development
    Hayley Davis
    Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, Oxford University, Roosevelt Drive, Oxford OX3 7BN, UK
    J Pathol 224:180-9. 2011
    ..Fbxw7(R482Q) alleles are not functionally equivalent to heterozygous or homozygous null alleles, and we propose that they are selected in tumourigenesis because they cause a selective or partial loss of FBXW7 function...
  22. pmc Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1
    Emma Jaeger
    Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Nat Genet 44:699-703. 2012
    ..Increased GREM1 expression is predicted to cause reduced bone morphogenetic protein (BMP) pathway activity, a mechanism that also underlies tumorigenesis in juvenile polyposis of the large bowel...
  23. pmc Genetic markers of toxicity from capecitabine and other fluorouracil-based regimens: investigation in the QUASAR2 study, systematic review, and meta-analysis
    Dan Rosmarin
    Dan Rosmarin, Claire Palles, David Church, Enric Domingo, Angela Jones, Ian Tomlinson, Wellcome Trust Centre for Human Genetics, NIHR Comprehensive Biomedical Research Centre, University of Oxford Dan Rosmarin, David Church, Elaine Johnstone, Haitao Wang, Sharon Love, Patrick Julier, Claire Scudder, George Nicholson, Rachel Midgley, David Kerr, and George Nicholson, University of Oxford, Oxford Michael Braun, the Christie NHS Foundation Trust, Manchester Matthew Seymour, St James s University Hospital, Leeds Lindsay Thompson, Medical Research Council Clinical Trials Unit Rohini Sharma, Imperial College Healthcare NHS Trust, Hammersmith and Charing Cross Hospitals, London, United Kingdom Anna Gonzalez Neira, Spanish National Cancer Research Centre Miguel Martin, Instituto de Investigación Sanitaria Hospital General Universitario Gregorio Marañón, Universidad Complutense, Prague
    J Clin Oncol 32:1031-9. 2014
    ..Fluourouracil (FU) is a mainstay of chemotherapy, although toxicities are common. Genetic biomarkers have been used to predict these adverse events, but their utility is uncertain...
  24. ncbi request reprint Refining molecular analysis in the pathways of colorectal carcinogenesis
    Andrew Rowan
    Molecular and Population Genetics Laboratory, London Research Institute, Cancer Research UK, 44 Lincoln s Inn Fields, London WC2A 3PX, UK
    Clin Gastroenterol Hepatol 3:1115-23. 2005
    ..CRCs also acquire global phenotypes, particularly microsatellite instability (MSI) and aneuploidy/polyploidy (chromosomal instability, CIN). Few changes specific to MSI-low or CIN+ cancers have been established...
  25. ncbi request reprint Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer
    Olivia Will
    Molecular and Population Genetics Laboratory, London Research Institute, Cancer Research, London, UK
    Gastroenterology 132:527-30. 2007
    ..He also had dysmorphic features, mental retardation, and café-au-lait spots but no brain tumor. We aimed to establish his molecular diagnosis...
  26. pmc Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1
    Timothy H T Cheng
    Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
    Sci Rep 5:17369. 2015
    ..Another polymorphism, rs12970291 near gene TSHZ1, was associated with both CRC and EC (OR = 1.26, P = 4.82 × 10(-8)), with the alleles showing opposite effects on the risks of the two cancers. ..
  27. pmc A polymorphic enhancer near GREM1 influences bowel cancer risk through differential CDX2 and TCF7L2 binding
    Annabelle Lewis
    Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
    Cell Rep 8:983-90. 2014
    ..rs16969681 influences CRC risk through effects on Wnt-driven GREM1 expression in colorectal tumors...
  28. pmc Fine-mapping of colorectal cancer susceptibility loci at 8q23.3, 16q22.1 and 19q13.11: refinement of association signals and use of in silico analysis to suggest functional variation and unexpected candidate target genes
    Luis G Carvajal-Carmona
    Wellcome Trust Centre for Human Genetics and Department of Clinical Pharmacology, University of Oxford, Oxford, UK
    Hum Mol Genet 20:2879-88. 2011
    ..In addition, caution should be exercised when assigning functionality to candidate genes in regions discovered through GWA analysis...
  29. pmc Germline and somatic polymerase ε and δ mutations define a new class of hypermutated colorectal and endometrial cancers
    Sarah Briggs
    Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    J Pathol 230:148-53. 2013
    ..Here, we present the evidence for POLE and POLD1 as important contributors to the pathogenesis of CRC and EC, and highlight some of the key questions in this emerging field...
  30. pmc CDC4/FBXW7 and the 'just enough' model of tumourigenesis
    Hayley Davis
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK
    J Pathol 227:131-5. 2012
    ..For propellor tip mutations, by contrast, there is weak pressure for a 'second hit' because they usually provide sufficient functional derangement on their own...
  31. ncbi request reprint The genetics of FAP and FAP-like syndromes
    Lara Lipton
    Molecular and Population Genetics Laboratory, Cancer Research UK, London, WC2A 3PX, UK
    Fam Cancer 5:221-6. 2006
    ..In approximately half to two thirds of these families, germline genetic variants can now be uncovered. In this review we draw together some of the most recent information pertinent to the molecular pathogenesis of colorectal polyposis...
  32. pmc Putative direct and indirect Wnt targets identified through consistent gene expression changes in APC-mutant intestinal adenomas from humans and mice
    Stefania Segditsas
    Molecular and Population Genetics Laboratory, London Research Institute, Cancer Research UK, London WC2A 3PX, UK
    Hum Mol Genet 17:3864-75. 2008
    ..Several of the newly identified, differentially expressed genes represent potential diagnostic or therapeutic targets for intestinal tumours...
  33. doi request reprint General lessons from large-scale studies to identify human cancer predisposition genes
    Jean Baptiste Cazier
    Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK
    J Pathol 220:255-62. 2010
    ..In this review, we summarize the general findings from cancer GWASs and their problems, and discuss the issues of finding rarer variants and other forms of cancer-predisposing variation, such as copy number polymorphisms...
  34. pmc A mitotic recombination map proximal to the APC locus on chromosome 5q and assessment of influences on colorectal cancer risk
    Kimberley Howarth
    Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    BMC Med Genet 10:54. 2009
    ..Although meiotic recombination maps are plentiful, little is known about mitotic recombination. The APC gene (chr5q21) is mutated in most colorectal tumours and its usual mode of LOH is mitotic recombination...
  35. ncbi request reprint An update on the genetics of colorectal cancer
    Zoe Kemp
    Molecular and Population Genetics Laboratory, London Research Institute, Cancer Research UK, London, UK
    Hum Mol Genet 13:R177-85. 2004
    ..Despite these potential problems, the effectiveness of preventive measures for CRC, especially in high-risk individuals, means that the search for new predisposition genes is justified...
  36. pmc Common colorectal cancer risk alleles contribute to the multiple colorectal adenoma phenotype, but do not influence colonic polyposis in FAP
    Timothy H T Cheng
    Molecular and Population Genetics Laboratory, Nuffield Department of Clinical Medicine, Wellcome Trust Centre for Human Genetics, Oxford, UK
    Eur J Hum Genet 23:260-3. 2015
    ..The risk of CRC in relatives of multiple adenoma cases is probably much lower for cases with polygenic disease, and this should be taken into account when counselling such patients. ..
  37. pmc Association analysis using next-generation sequence data from publicly available control groups: the robust variance score statistic
    Andriy Derkach
    Department of Statistical Science, University of Toronto, Toronto, ON, Canada, Program in Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, ON, Canada, Department of Clinical Neuroscience, Institute of Psychiatry, King s College London, London, Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, Surrey, Molecular and Population Genetics and NIHR Comprehensive Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK, Division of Biostatistics, Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada
    Bioinformatics 30:2179-88. 2014
    ..We propose a novel likelihood-based method, the robust variance score (RVS), that substitutes genotype calls by their expected values given observed sequence data...
  38. pmc Use of multivariate analysis to suggest a new molecular classification of colorectal cancer
    Enric Domingo
    Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    J Pathol 229:441-8. 2013
    ..Our classification also showed potentially improved prognostic capabilities, with group 3, and possibly group 1, independently predicting disease-free survival...
  39. pmc Thyroid cancer susceptibility polymorphisms: confirmation of loci on chromosomes 9q22 and 14q13, validation of a recessive 8q24 locus and failure to replicate a locus on 5q24
    Angela M Jones
    Wellcome Trust Centre for Human Genetics, Oxford, UK
    J Med Genet 49:158-63. 2012
    ..The four validated TC SNPs accounted for a relatively large proportion (∼11%) of the sibling relative risk of TC, principally owing to the large effect size of rs965513 (OR 1.74)...
  40. ncbi request reprint Colorectal tumourigenesis in carriers of the APC I1307K variant: lone gunman or conspiracy?
    Oliver Sieber
    Molecular and Population Genetics Laboratory, Cancer Research UK, 44 Lincoln s Inn Fields, London WC2A 3PX, UK
    J Pathol 199:137-9. 2003
    ..It is therefore possible that many APC I1307K carriers with multiple adenomas have a susceptibility to tumours additional to that resulting from the A(8) tract...
  41. ncbi request reprint Evidence for a colorectal cancer susceptibility locus on chromosome 3q21-q24 from a high-density SNP genome-wide linkage scan
    Zoe Kemp
    Molecular and Population Genetics Laboratory, Cancer Research UK, London, UK
    Hum Mol Genet 15:2903-10. 2006
    ..038) with 62% of families linked to the locus. We provide evidence for a novel CRC susceptibility gene. Further studies are needed to confirm this localization and to evaluate the contribution of this locus to disease incidence...
  42. ncbi request reprint Genomic stability and tumorigenesis
    Oliver Sieber
    Molecular and Population Genetics Laboratory, London Research Institute, Cancer Research UK, 44, Lincoln s Inn Fields, London WC2A 3PX, UK
    Semin Cancer Biol 15:61-6. 2005
    ..Experimental data have shown genomic instability in some cancers, but we do not yet know whether or not hypermutation initiates and drives tumorigenesis...
  43. doi request reprint The continuum model of selection in human tumors: general paradigm or niche product?
    Simon Leedham
    Molecular and Population Genetics Laboratory, Nuffield Department of Medicine, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Cancer Res 72:3131-4. 2012
    ....
  44. pmc Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus
    Zhan Su
    Wellcome Trust Centre for Human Genetics, Oxford, UK
    Nat Genet 44:1131-6. 2012
    ..We found evidence that many common variants of small effect contribute to genetic susceptibility to Barrett's esophagus and that SNP alleles predisposing to obesity also increase risk for Barrett's esophagus...
  45. pmc Down-regulation of serum/glucocorticoid regulated kinase 1 in colorectal tumours is largely independent of promoter hypermethylation
    Francesca Lessi
    Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    PLoS ONE 5:e13840. 2010
    ..As hyper-methylation of promoter regions is a well-known mechanism of gene silencing in cancer, we tested whether the SGK1 promoter region was methylated in colonic tumour samples...
  46. doi request reprint The mini-driver model of polygenic cancer evolution
    Francesc Castro-Giner
    Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK
    Nat Rev Cancer 15:680-5. 2015
    ..However, the main importance of the model lies in helping to provide a complete understanding of tumorigenesis, especially as we anticipate that an increasing number of mini-driver mutations will be found by cancer genome sequencing. ..
  47. doi request reprint A panoply of errors: polymerase proofreading domain mutations in cancer
    Emily Rayner
    Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
    Nat Rev Cancer 16:71-81. 2016
    ....
  48. pmc Recurrent chromosomal gains and heterogeneous driver mutations characterise papillary renal cancer evolution
    Michal Kovac
    1 Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, Nuffield Department of Clinical Medicine, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK 2 Department of Biomedicine, Research Group Human Genomics, University of Basel, Mattenstrasse 28, 4058 Basel, Switzerland
    Nat Commun 6:6336. 2015
    ..The predominance of large copy number variants as the major drivers for pRCC highlights an unusual mode of tumorigenesis that may challenge precision medicine approaches. ..
  49. doi request reprint Common variation at the adiponectin locus is not associated with colorectal cancer risk in the UK
    Luis G Carvajal-Carmona
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Hum Mol Genet 18:1889-92. 2009
    ..We, therefore, failed to replicate an association between common variants at ADIPOQ and CRC risk in the UK, and suggest that the previous report is either population-specific or a false-positive result...
  50. pmc Severe polyposis in Apc(1322T) mice is associated with submaximal Wnt signalling and increased expression of the stem cell marker Lgr5
    Annabelle Lewis
    Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK
    Gut 59:1680-6. 2010
    ..1322T mice had more severe polyposis but, surprisingly, these tumours had lower levels of nuclear β-catenin than Min tumours. The consequences of these different β-catenin levels were investigated...
  51. ncbi request reprint The role of E-cadherin in low-grade ductal breast tumourigenesis
    Rebecca Roylance
    Molecular and Population Genetics Laboratory, Cancer Research UK, 44 Lincoln s Inn Fields, London WC2A 3PX, UK
    J Pathol 200:53-8. 2003
    ..The data suggest that despite the shared pattern of genetic aberrations seen in grade I IDC and ILC, CDH1 is not the target gene in low-grade ductal tumourigenesis...
  52. ncbi request reprint Does MSI-low exist?
    Ian Tomlinson
    Molecular and Population Genetics Laboratory, Imperial Cancer Research Fund, London, UK
    J Pathol 197:6-13. 2002
    ..There was no evidence for a qualitatively discrete MSI-L group, but quantitative differences in the level of MSI were found...
  53. doi request reprint SDH mutations in cancer
    Chiara Bardella
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK
    Biochim Biophys Acta 1807:1432-43. 2011
    ..Here is reported an overview of genetics, clinical and molecular progress recently performed in understanding the basis of HPGL/PCC tumorigenesis...