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.
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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.
Guideline: Early screening warranted if family history of nonhereditary colorectal 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.
Prevalence of Synchronous Oligopolyposis in Incident Colorectal Cancer: A Population-Based Study
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].
Novel Implications in Molecular Diagnosis of Lynch Syndrome
Tejpar et al., "The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP)," Acta Gastro-Enterologica Belgica, vol.
The lncRNA H19 Promotes Cell Proliferation by Competitively Binding to miR-200a and Derepressing [beta]-Catenin Expression in Colorectal Cancer
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.
Mutation Spectrum Induced by 8-Bromoguanine, a Base Damaged by Reactive Brominating Species, in Human Cells
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.
Molecular diagnostics of colorectal cancer
MUTYH-associated polyposis (MAP) is an autosomal recessive syndrome associated with biallelic germline mutations in the base excision repair gene MUTYH (OMIM #608456) (1).
Multiplex tetra-primer amplification refractory mutation system PCR to detect 6 common germline mutations of the MUTYH gene associated with polyposis and colorectal cancer
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].
Hereditary Colorectal Tumors: A Literature Review on MUTYH-Associated Polyposis
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].
Impaired 8-hydroxyguanine repair activity of MUTYH variant p.Arg109Trp found in a Japanese patient with early-onset colorectal cancer
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