MUTYH-associated polyposis

MUTYH-associated polyposis

An autosomal recessive colorectal cancer syndrome (OMIM:604933) caused by bi-allelic, MUTYH-inactivating germline mutations. Gene carriers develop 10–500 polyps up to the fifth decade of life and may present thereafter with colorectal cancer.
References in periodicals archive ?
To develop the guideline, they searched the literature for studies of family history and colorectal cancer risk apart from hereditary Lynch syndrome, familial adenomatous polyposis, attenuated familial adenomatous polyposis, MUTYH-associated polyposis, Peutz-Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, serrated (hyperplastic) polyposis syndrome, hereditary pancreatic cancer, and hereditary gastric cancer.
Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. Gastroenterology 2009;136:471-476.
MUTYH-associated polyposis. Best Pract Res Clin Gastroenterol 2009;23:209-218.
In FAP syndrome, attenuated forms (AFAP) are caused by low penetrance mutations (missense mutations) in the main APC gene or by biallelic loss of the MYH gene (MAP, MUTYH-associated polyposis with autosomal recessive inheritance), encoding a protein of the Base Excision Repair complex (BER) [5].
Tejpar et al., "The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP)," Acta Gastro-Enterologica Belgica, vol.
MUTYH is the responsible gene for MUTYH-associated polyposis (MAP), a hereditary disease characterized by colorectal polyposis and carcinoma(s) [10,17].
Sugimura, "Role of base excision repair enzyme MUTYH in the repair of 8-hydroxyguanine and MUTYH-associated polyposis (MAP)," Hereditary Genetics, vol.
A very small percentage of chromosomal instability tumors are inherited and arise secondary to germline mutations in the APC gene (familial adenomatous polyposis; less than 1% of CRCs) or the MUTYH gene (MUTYH-associated polyposis; <1% of CRCs).
Some families with attenuated forms of familial adenomatous polyposis syndrome (including MUTYH-associated polyposis) might fulfill the Amsterdam criteria (see below) for having HNPCC.
MUTYH-associated polyposis (MAP) is an autosomal recessive syndrome associated with biallelic germline mutations in the base excision repair gene MUTYH (OMIM #608456) (1).
Investigation revealed that this gene is involved in DNA base excision repair, and biallelic mutations of the MUTYH gene is related to the development of multiple adenomas, a syndrome known as MUTYH-associated polyposis or MAP [2, 3].
Clinically, biallelic germline inactivating MUTYH mutations are known to predispose an individual to MUTYH-associated polyposis (MAP: MIM #608456), a hereditary disorder characterized by multiple colorectal polyps and carcinoma(s) [9-11].