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) .
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.
(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].