MUTYH-associated polyposis.
MUTYH-associated polyposis (MAP) is an autosomal recessive disorder characterised by adenomatous polyps of the colorectum and a very high risk of colorectal cancer. It appears to be at least as prevalent as autosomal dominant familial adenomatous polyposis (that is caused by truncating mutations in the APC gene) with which it shares important gastroenterological features. It was first recognised as recently as 2002 and its full phenotype and natural history are still being characterised. Key extracolonic manifestations include a predisposition to duodenal adenomas and cancer and a modest increase in risk for several extraintestinal tumours. Testing for mutations in the MUTYH gene is indicated in patients who have multiple colorectal adenomas or a family history suggestive of autosomal recessive colorectal cancer and for the siblings and spouses of patients with MAP in order to inform surveillance and treatment for patients and their families.
Sampson
Julian R
JR
Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK. sampson@cf.ac.uk
Jones
Natalie
N
D011125:Adenomatous Polyposis Coli / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D000328:Adult; D000368:Aged; D045647:DNA Glycosylases / Q000235:genetics*; D004252:DNA Mutational Analysis; D055088:Early Detection of Cancer; D015972:Gene Expression Regulation, Neoplastic; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D008875:Middle Aged; D018579:Patient Selection; D010375:Pedigree; D010641:Phenotype; D011237:Predictive Value of Tests; D018570:Risk Assessment; D055815:Young Adult
D045647:DNA Glycosylases; C061738:mutY adenine glycosylase