Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach (2000)

Author(s): Fidalgo P, Almeida MR, West S, Gaspar C, Maia L, Wijnen J, Albuquerque C, Curtis A, Cravo M, Fodde R, Leitao CN, Burn J

      • Date: 01-01-2000
      • Journal: European Journal of Human Genetics
      • Volume: 8
      • Issue: 1
      • Pages: 49-53
      • Publisher: Nature Publishing Group
      • Publication type: Article
      • Bibliographic status: Published

      Keywords: mutation detection hereditary non-polyposis colorectal cancer single strand conformation polymorphism heteroduplex analysis denaturing gradient gel electrophoresis protein truncation test NONPOLYPOSIS COLON-CANCER TRANSLATION-TERMINATING MUTATIONS GRADIENT GEL-ELECTROPHORESIS PROTEIN TRUNCATION TEST HMLH1 GENES MICROSATELLITE INSTABILITY ADENOMATOUS POLYPOSIS GERMLINE MUTATIONS AMSTERDAM CRITERIA RAPID DETECTION


      Professor Sir John Burn
      Professor of Clinical Genetics

      Dr Ann Curtis
      Honorary Lecturer