title: Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH.
abstract: Familial adenomatous polyposis (FAP) and attenuated FAP are autosomal dominant disorders characterised by multiple colorectal adenomas and cancers. Both are caused by inherited mutations in the APC gene, and management includes genetic testing, colonoscopic surveillance, and prophylactic surgery for the relatives of index cases. Among 614 families recorded in six regional registers of polyposis in the UK, we identified 111 with neither dominant transmission nor evidence of APC mutation. Molecular genetic analysis showed that 25 had biallelic mutations of the MYH gene. Since our data show that MYH polyposis can be transmitted as an autosomal recessive trait, a change in genetic counselling, testing, and surveillance is needed.
authors.affiliation: Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK. sampson@cardiff.ac.uk
authors.forename: Julian R
authors.initials: JR
authors.lastname: Sampson
authors.forename: Sunil
authors.initials: S
authors.lastname: Dolwani
authors.forename: Sian
authors.initials: S
authors.lastname: Jones
authors.forename: Diana
authors.initials: D
authors.lastname: Eccles
authors.forename: Anthony
authors.initials: A
authors.lastname: Ellis
authors.forename: D Gareth
authors.initials: DG
authors.lastname: Evans
authors.forename: Ian
authors.initials: I
authors.lastname: Frayling
authors.forename: Sheila
authors.initials: S
authors.lastname: Jordan
authors.forename: Eamonn R
authors.initials: ER
authors.lastname: Maher
authors.forename: Tony
authors.initials: T
authors.lastname: Mak
authors.forename: Julie
authors.initials: J
authors.lastname: Maynard
authors.forename: Francesca
authors.initials: F
authors.lastname: Pigatto
authors.forename: Joan
authors.initials: J
authors.lastname: Shaw
authors.forename: Jeremy P
authors.initials: JP
authors.lastname: Cheadle
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000453:epidemiology / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D045647:DNA Glycosylases; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D009699:N-Glycosyl Hydrolases / Q000235:genetics*; D012042:Registries; D006113:United Kingdom / Q000453:epidemiology
chemical_list: D045647:DNA Glycosylases; D009699:N-Glycosyl Hydrolases; C061738:mutY adenine glycosylase