Statistics from Altmetric.com
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 …
Funding: This work was supported by grants from The Wales Office of Research and Development to SD, and Cancer Research UK and Cancer Research Wales (to JPC, JRS and SD).
Competing interests: None.
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.