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A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency.
Wimmer, Katharina; Beilken, Andreas; Nustede, Rainer; Ripperger, Tim; Lamottke, Britta; Ure, Benno; Steinmann, Diana; Reineke-Plaass, Tanja; Lehmann, Ulrich; Zschocke, Johannes; Valle, Laura; Fauth, Christine; Kratz, Christian P.
Affiliation
  • Wimmer K; Division of Human Genetics, Medical University Innsbruck, Peter-Mayr-Straße 1, 6020, Innsbruck, Austria. katharina.wimmer@i-med.ac.at.
  • Beilken A; Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.
  • Nustede R; Department of Surgery, Children's Hospital, Hannover Medical School, Hannover, Germany.
  • Ripperger T; Institute of Human Genetics, Hannover Medical School, Hannover, Germany.
  • Lamottke B; Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.
  • Ure B; Department of Surgery, Children's Hospital, Hannover Medical School, Hannover, Germany.
  • Steinmann D; Department of Radiotherapy and Special Oncology, Hannover Medical School, Hannover, Germany.
  • Reineke-Plaass T; Institute of Pathology, Hannover Medical School, Hannover, Germany.
  • Lehmann U; Institute of Pathology, Hannover Medical School, Hannover, Germany.
  • Zschocke J; Division of Human Genetics, Medical University Innsbruck, Peter-Mayr-Straße 1, 6020, Innsbruck, Austria.
  • Valle L; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet De Llobregat, Spain.
  • Fauth C; Division of Human Genetics, Medical University Innsbruck, Peter-Mayr-Straße 1, 6020, Innsbruck, Austria.
  • Kratz CP; Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.
Fam Cancer ; 16(1): 67-71, 2017 01.
Article in En | MEDLINE | ID: mdl-27573199

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neoplastic Syndromes, Hereditary / Brain Neoplasms / Colorectal Neoplasms / Germ-Line Mutation / DNA Polymerase II Type of study: Etiology_studies / Prognostic_studies Limits: Adolescent / Humans / Male Language: En Journal: Fam Cancer Journal subject: NEOPLASIAS Year: 2017 Type: Article Affiliation country: Austria

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neoplastic Syndromes, Hereditary / Brain Neoplasms / Colorectal Neoplasms / Germ-Line Mutation / DNA Polymerase II Type of study: Etiology_studies / Prognostic_studies Limits: Adolescent / Humans / Male Language: En Journal: Fam Cancer Journal subject: NEOPLASIAS Year: 2017 Type: Article Affiliation country: Austria