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The potential for increased clinical sensitivity in genetic testing for polyposis colorectal cancer through the analysis of MYH mutations in North American patients
  1. K Eliason1,
  2. B C Hendrickson1,
  3. T Judkins1,
  4. M Norton1,
  5. B Leclair1,
  6. E Lyon2,
  7. B Ward1,
  8. W Noll1,
  9. T Scholl1
  1. 1Myriad Genetic Laboratories Inc, Salt Lake City, Utah, USA
  2. 2Department of Pathology, University of Utah, Salt Lake City
  1. Correspondence to:
 Dr Thomas Scholl
 Myriad Genetic Laboratories Inc, 320 Wakara Way, Salt Lake City, UT 84108, USA:

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

We determined the mutation spectrum for MYH by direct DNA sequencing in 219 anonymous North American patient specimens found negative for APC mutations during clinical genetic testing for risk …

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  • Conflicts of interest: KE, BH, TJ, MN, BL, BW, and TS are employed by MGL Inc, the funding source for this research. EL declares no competing interests.