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The polymorphic variant rs1800734 influences methylation acquisition and allele-specific TFAP4 binding in the MLH1 promoter leading to differential mRNA expression.
Thomas, Rachael; Trapani, Davide; Goodyer-Sait, Lily; Tomkova, Marketa; Fernandez-Rozadilla, Ceres; Sahnane, Nora; Woolley, Connor; Davis, Hayley; Chegwidden, Laura; Kriaucionis, Skirmantas; Maughan, Timothy; Leedham, Simon; Palles, Claire; Furlan, Daniela; Tomlinson, Ian; Lewis, Annabelle.
  • Thomas R; Cancer Gene Regulation Group, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK.
  • Trapani D; Anatomic Pathology Unit, Department of Medicine and Surgery and Research Center of Hereditary and Familial Tumors, University of Insubria, Varese, 21100, Italy.
  • Goodyer-Sait L; Institute of Structural and Molecular Biology, Department of, Biological Sciences, Birkbeck, London, UK.
  • Tomkova M; Ludwig Institute for Cancer Research Ltd, University of Oxford, Nuffield Department of Clinical Medicine, Old Road Campus Research Building, Roosevelt Drive, Oxford, OX3 7DQ, UK.
  • Fernandez-Rozadilla C; Fundación Pública Galega de Medicina Xenómica, Grupo de Medicina Xenómica, IDIS, Santiago de Compostela, Spain.
  • Sahnane N; Anatomic Pathology Unit, Department of Medicine and Surgery and Research Center of Hereditary and Familial Tumors, University of Insubria, Varese, 21100, Italy.
  • Woolley C; Cancer Genetics and Evolution Laboratory, Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
  • Davis H; Intestinal Stem Cell Biology Group, Wellcome Trust Centre for Human Genetics, Oxford University, Roosevelt Drive, Oxford, OX3 7BN, UK.
  • Chegwidden L; Gastrointestinal Cancer Genetics Laboratory, Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
  • Kriaucionis S; Ludwig Institute for Cancer Research Ltd, University of Oxford, Nuffield Department of Clinical Medicine, Old Road Campus Research Building, Roosevelt Drive, Oxford, OX3 7DQ, UK.
  • Maughan T; Oxford Institute of Radiation Oncology, University of Oxford, Old Road Campus Research Building, Roosevelt Drive, Oxford, OX3 7DQ, UK.
  • Leedham S; Intestinal Stem Cell Biology Group, Wellcome Trust Centre for Human Genetics, Oxford University, Roosevelt Drive, Oxford, OX3 7BN, UK.
  • Palles C; Gastrointestinal Cancer Genetics Laboratory, Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
  • Furlan D; Anatomic Pathology Unit, Department of Medicine and Surgery and Research Center of Hereditary and Familial Tumors, University of Insubria, Varese, 21100, Italy.
  • Tomlinson I; Cancer Genetics and Evolution Laboratory, Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
  • Lewis A; Cancer Gene Regulation Group, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK. lewisa@well.ox.ac.uk.
Sci Rep ; 9(1): 13463, 2019 09 17.
Article en En | MEDLINE | ID: mdl-31530880
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Factores de Transcripción / Neoplasias Colorrectales / Regiones Promotoras Genéticas / Polimorfismo de Nucleótido Simple / Proteínas de Unión al ADN / Homólogo 1 de la Proteína MutL Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Límite: Humans Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Factores de Transcripción / Neoplasias Colorrectales / Regiones Promotoras Genéticas / Polimorfismo de Nucleótido Simple / Proteínas de Unión al ADN / Homólogo 1 de la Proteína MutL Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Límite: Humans Idioma: En Año: 2019 Tipo del documento: Article