"MUTYH-associated polyposis (MAP) is a rare autosomal recessive hereditary cancer syndrome and adenomatous polyposis syndrome, caused by mutation to DNA repair gene MUTYH, resulting in an increased risk of colorectal cancer."
"MUTYH-associated polyposis is a rare condition, with a prevalence of approximately 1 in 30,000 1. It accounts for approximately 7% of patients with an adenomatous polyposis phenotype 2."
"MUTYH-associated polyposis is characterised by the development of colonic adenomatous polyps and eventual colorectal cancer 1-5. Tubular adenomas are most common, but other forms of adenomas (e.g. sessile-serrated, hyperplastic, etc.) can also occur 2-4."
"Mutations in two other genes encoding for other components of base excision repair, NTHL1 and MBD4, can also result in rare autosomal recessive adenomatous polyposis syndromes 2."
"Imaging is not used for surveillance of MUTYH-associated polyposis, and is thus, not widely reported in the literature. Features would be of numerous colonic polyps and of colorectal cancer."
"MUTYH-associated polyposis was first described in 2002 5."
"MBD4-associated neoplasia syndrome"
"NTHL1 tumour syndrome"
"Mutations in two other genes encoding for other components of base excision repair, NTHL1 and MBD4, can also result in rare autosomal recessive adenomatous polyposis syndromes 2."