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Analysis of inherited MYH/(MutYH) mutations in British Asian patients with colorectal cancer
  1. S Dolwani1,
  2. G T Williams2,
  3. K P West3,
  4. J Newman4,
  5. D Stock5,
  6. A P Griffiths6,
  7. J Best7,
  8. J P Cheadle8,
  9. J R Sampson8
  1. 1Department of Medical Genetics, School of Medicine, Cardiff University,Cardiff, UK
  2. 2Department of Pathology, School of Medicine, Cardiff University & University Hospital of Wales, Cardiff, UK
  3. 3Department of Histopathology, University Hospitals of Leicester, Leicester, UK
  4. 4Department of Cellular Pathology, Birmingham Heartlands Hospital, Heart of England NHS Trust, Birmingham, UK
  5. 5Department of Histopathology, Royal Glamorgan Hospital, Pontypridd & Rhondda NHS Trust, Ynys Maerdy, Llantrisant, UK
  6. 6Department of Histopathology, Morriston Hospital, Swansea NHS Trust, Morriston, UK
  7. 7Department of Pathology, School of Medicine, Cardiff University & University Hospital of Wales, Cardiff, UK
  8. 8Department of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK
  1. Correspondence to:
    Dr S Dolwani
    Department of Gastroenterology,Cardiff and Vale NHS Trust, Llandough Hospital, Penlan Road, Penarth, Cardiff CF642XX, UK; dolwanis{at}cardiff.ac.uk

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Biallelic inherited mutations of the MYH gene (also known as MutYH or human MutY homologue) are associated with multiple colorectal adenomas and a high risk of colorectal cancer that approaches 100%.1,2 This recessive disorder has become known as MYH-associated polyposis (MAP) to distinguish it from dominantly inherited familial adenomatous polyposis. The risk of colorectal cancer in heterozygotes seems to be only marginally increased, if at all.2 During a review of the Wales Polyposis Register we noted that although only 4 of the 115 recorded families were of Asian origin, all four had MAP. This was in contrast to the 111 indigenous families, only 12 of which had MAP. All affected members of three unrelated British Indian families were homozygous for the mutation E466X and one patient of Pakistani descent was homozygous for Y90X.3 These mutations have not been observed in other ethnic groups. As the overall incidence of …

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