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Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression.
Smith, Joel; Read, Martin L; Hoffman, Jon; Brown, Rachel; Bradshaw, Beth; Campbell, Christopher; Cole, Trevor; Navas, Johanna Dieguez; Eatock, Fiona; Gundara, Justin S; Lian, Eric; Mcmullan, Dom; Morgan, Neil V; Mulligan, Lois; Morrison, Patrick J; Robledo, Mercedes; Simpson, Michael A; Smith, Vicki E; Stewart, Sue; Trembath, Richard C; Sidhu, Stan; Togneri, Fiona S; Wake, Naomi C; Wallis, Yvonne; Watkinson, John C; Maher, Eamonn R; McCabe, Christopher J; Woodward, Emma R.
Affiliation
  • Smith J; Centre for Rare Diseases and Personalised Medicine.
  • Read ML; School of Clinical and Experimental Medicine, University of Birmingham, Birmingham B15 2TT, UK.
  • Hoffman J; West Midlands Regional Genetics Service.
  • Brown R; Queen Elizabeth Hospital, Queen Elizabeth Medical Centre, Birmingham B15 2TH, UK.
  • Bradshaw B; West Midlands Regional Genetics Laboratory, Birmingham Women's Hospital, Birmingham B15 2TG, UK.
  • Campbell C; West Midlands Regional Genetics Laboratory, Birmingham Women's Hospital, Birmingham B15 2TG, UK, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester M13 9WL, UK.
  • Cole T; West Midlands Regional Genetics Service.
  • Navas JD; Human Biomaterials Resource Centre, College of Medical and Dental Sciences, University of Birmingham, Vincent Drive, Edgbaston B15 2TT, UK.
  • Eatock F; Department of Endocrine Surgery, Belfast Health and Social Care Trust, Royal Victoria Hospital, Belfast, Northern Ireland, UK.
  • Gundara JS; Cancer Genetics, Level 9, Kolling Building and Endocrine Surgical Unit, Royal North Shore Hospital, University of Sydney, Pacific Highway, St Leonards, NSW 2065, Australia.
  • Lian E; Division of Cancer Biology and Genetics, Cancer Research Institute, Queen's University, Kingston, Canada.
  • Mcmullan D; West Midlands Regional Genetics Laboratory, Birmingham Women's Hospital, Birmingham B15 2TG, UK.
  • Morgan NV; Centre for Rare Diseases and Personalised Medicine.
  • Mulligan L; Division of Cancer Biology and Genetics, Cancer Research Institute, Queen's University, Kingston, Canada.
  • Morrison PJ; Centre for Cancer Research and Cell Biology, Queen's University of Belfast, 97 Lisburn Road, Belfast BT9 7AE, UK.
  • Robledo M; Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.
  • Simpson MA; Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London, UK.
  • Smith VE; School of Clinical and Experimental Medicine, University of Birmingham, Birmingham B15 2TT, UK.
  • Stewart S; West Midlands Regional Genetics Service.
  • Trembath RC; Queen Mary University of London, Barts and The London School of Medicine and Dentistry, London, UK.
  • Sidhu S; Cancer Genetics, Level 9, Kolling Building and Endocrine Surgical Unit, Royal North Shore Hospital, University of Sydney, Pacific Highway, St Leonards, NSW 2065, Australia.
  • Togneri FS; West Midlands Regional Genetics Laboratory, Birmingham Women's Hospital, Birmingham B15 2TG, UK.
  • Wake NC; Centre for Rare Diseases and Personalised Medicine.
  • Wallis Y; West Midlands Regional Genetics Laboratory, Birmingham Women's Hospital, Birmingham B15 2TG, UK.
  • Watkinson JC; Queen Elizabeth Hospital, Queen Elizabeth Medical Centre, Birmingham B15 2TH, UK.
  • Maher ER; Centre for Rare Diseases and Personalised Medicine, Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge, UK and.
  • McCabe CJ; School of Clinical and Experimental Medicine, University of Birmingham, Birmingham B15 2TT, UK.
  • Woodward ER; Centre for Rare Diseases and Personalised Medicine, West Midlands Regional Genetics Service, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester M13 9WL, UK emma.woodward@cmft.nhs.uk.
Hum Mol Genet ; 25(9): 1836-45, 2016 05 01.
Article in En | MEDLINE | ID: mdl-26945007
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Full text: 1 Database: MEDLINE Main subject: Thyroid Neoplasms / Gene Expression Regulation, Neoplastic / Germ-Line Mutation / Carcinoma, Medullary / Multiple Endocrine Neoplasia Type 2a / Estrogen Receptor beta / Proto-Oncogene Proteins c-ret Type of study: Etiology_studies / Prognostic_studies Limits: Adult / Humans / Male Language: En Year: 2016 Type: Article
Fulltext
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Full text: 1 Database: MEDLINE Main subject: Thyroid Neoplasms / Gene Expression Regulation, Neoplastic / Germ-Line Mutation / Carcinoma, Medullary / Multiple Endocrine Neoplasia Type 2a / Estrogen Receptor beta / Proto-Oncogene Proteins c-ret Type of study: Etiology_studies / Prognostic_studies Limits: Adult / Humans / Male Language: En Year: 2016 Type: Article