title: Colorectal cancer in a monoallelic MYH mutation carrier.
abstract: Although the literature describes mutY homolog gene (MYH) polyposis as an autosomal recessive syndrome, we report a case of colorectal cancer in a carrier of MYH polyposis. Biallelic mutations in the MYH gene have been shown to increase the risk of colorectal cancer over the lifetime of the mutation carrier.1,2 However, there is no clear consensus in the literature as whether a monoallelic mutation increases the risk for colorectal cancer.3 In this report, we postulate that a single mutation is sufficient to increase the risk of colorectal cancer. We also propose that the G382D MYH mutation may play a dominant rather than a recessive role in polyposis and cancer development.
authors.affiliation: University of Central Florida College of Medicine, Orlando, FL, USA. rachakhalaf@gmail.com
authors.forename: Racha
authors.initials: R
authors.lastname: Khalaf
authors.forename: Christopher
authors.initials: C
authors.lastname: Jones
authors.forename: Warren
authors.initials: W
authors.lastname: Strutt
authors.forename: Paul
authors.initials: P
authors.lastname: Williamson
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D000236:Adenoma / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D003082:Colectomy; D003110:Colonic Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D003111:Colonic Polyps / Q000235:genetics / Q000473:pathology / Q000601:surgery; D045647:DNA Glycosylases / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation
chemical_list: D045647:DNA Glycosylases; C061738:mutY adenine glycosylase