Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH.
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.
Sampson
Julian R
JR
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK. sampson@cardiff.ac.uk
Dolwani
Sunil
S
Jones
Sian
S
Eccles
Diana
D
Ellis
Anthony
A
Evans
D Gareth
DG
Frayling
Ian
I
Jordan
Sheila
S
Maher
Eamonn R
ER
Mak
Tony
T
Maynard
Julie
J
Pigatto
Francesca
F
Shaw
Joan
J
Cheadle
Jeremy P
JP
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
D045647:DNA Glycosylases; D009699:N-Glycosyl Hydrolases; C061738:mutY adenine glycosylase