title: Mutation analysis of the MYH gene in an Australian series of colorectal polyposis patients with or without germline APC mutations.
abstract: The MYH gene has recently been shown to be associated with a recessive form of colorectal adenomatous polyposis. Two common mutations in the MYH gene have been identified that lend themselves to rapid screening. We have examined a series of 302 individuals comprising 120 control subjects, 120 patients diagnosed with adenomatous polyposis but without germline mutations in the APC gene and 62 patients diagnosed with familial adenomatous polyposis all harbouring confirmed causative APC germline mutations. The results reveal that MYH accounts for 16 percent of polyposis patients without germline mutations in the APC gene and that it does not appear to be a modifier gene in FAP patients diagnosed with APC germline mutations.
authors.affiliation: Discipline of Medical Genetics, School of Biomedical Sciences, Faculty of Health, University of Newcastle and the Hunter Medical Research Institute, Newcastle, Australia.
authors.forename: Carla F
authors.initials: CF
authors.lastname: Kairupan
authors.forename: Cliff J
authors.initials: CJ
authors.lastname: Meldrum
authors.forename: Renee
authors.initials: R
authors.lastname: Crooks
authors.forename: Elizabeth A
authors.initials: EA
authors.lastname: Milward
authors.forename: Allan D
authors.initials: AD
authors.lastname: Spigelman
authors.forename: Bronwyn
authors.initials: B
authors.lastname: Burgess
authors.forename: Claire
authors.initials: C
authors.lastname: Groombridge
authors.forename: Judy
authors.initials: J
authors.lastname: Kirk
authors.forename: Kathy
authors.initials: K
authors.lastname: Tucker
authors.forename: Robyn
authors.initials: R
authors.lastname: Ward
authors.forename: Rachel
authors.initials: R
authors.lastname: Williams
authors.forename: Rodney J
authors.initials: RJ
authors.lastname: Scott
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D000328:Adult; D000368:Aged; D001315:Australia / Q000453:epidemiology; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D017491:Genes, APC; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged