The potential for increased clinical sensitivity in genetic testing for polyposis colorectal cancer through the analysis of MYH mutations in North American patients

摘要: Mutations in the base excision repair gene MYH were recently implicated recessive inheritance of colorectal adenomas and carcinomas.1 The majority patient specimens screened for described published reports derive from United Kingdom, where two missense variants—Y165C G382D—are most prevalent mutations white population.2–5 carrier frequency these is approximately 2% British population.1,4 Some additional detected at lower patients. Two other protein truncating mutations—E466X Y90X—have been found individuals Indian Pakistani descent, respectively.2,3 Finally, a mutation that deletes codon Glu-466 was reported to be Italian patients.6 This evidence supports view will discovered showing differences prevalence between ancestries. We determined spectrum by direct DNA sequencing 219 anonymous North American negative APC during clinical genetic testing risk …