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

Abstract

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 assessment for familial adenomatous polyposis (FAP). All specimens were first sequenced for exons 7 and 13, where 13 instances (5.9%) of biallelic mutations and 15 instances (6.8%) of heterozygous mutations of either Y165C or G382D were detected (table 1).