Screening for exonic copy number mutations at MSH2 and MLH1 by MAPH

Seyed Mohammad Akrami, Malcolm G Dunlop, Susan M Farrington, Ian M Frayling, Fiona MacDonald, John F Harvey, John A L Armour

Research output: Contribution to journalArticlepeer-review


Exonic deletions in MSH2 and MLH1 are significant contributors to the mutation spectrum in HNPCC, and heterozygous changes in exon copy number are not detected by conventional mutation screening methods.
Original languageEnglish
Pages (from-to)145-9
Number of pages5
JournalFamilial Cancer
Issue number2
Publication statusPublished - 2005


  • Adaptor Proteins, Signal Transducing
  • Carrier Proteins
  • Case-Control Studies
  • Colorectal Neoplasms, Hereditary Nonpolyposis
  • DNA Mutational Analysis
  • DNA-Binding Proteins
  • Exons
  • Frameshift Mutation
  • Gene Dosage
  • Genetic Testing
  • Humans
  • In Situ Hybridization
  • MutS Homolog 2 Protein
  • Neoplasm Proteins
  • Nuclear Proteins
  • Proto-Oncogene Proteins


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