FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1569098877> ?p ?o ?g. }

• W1569098877 abstract "MUTYH-associated polyposis (MAP) is an autosomal recessive condition characterised by the development of multiple colon polyps and colorectal cancer (CRC). It is caused by biallelic germline mutations in the human mutY homologue (MUTYH) gene on 1p34.3. The MUTYH protein is a base excision repair glycosylase involved in the repair of oxidation of a guanine leading to 8-oxo-7,8-dihydro-2′-deoxyguanosine. MUTYH recognises an oxoG:A mismatch and excises the undamaged adenine base using a base-flipping mechanism.Most carriers of biallelic MUTYH mutations develop between 10 and 500, predominantly adenomatous polyps and CRC, but a number of MAP patients have CRC without polyps. The lifetime CRC risk in MAP patients is between 40% and 100% in the absence of timely surveillance. The lifetime risk for duodenal cancer is approximately 4% and a modest, but significant increase in incidence has been shown for ovarian, bladder and skin cancer.Key Concepts: MUTYH-associated polyposis (MAP) is an autosomal recessive inherited polyposis and CRC syndrome.MAP is caused by mutations in both alleles of the MUTYH gene.One of the key functions of the MUTYH protein is prevention of mutagenesis caused by oxidative DNA damage of guanine.Loss of MUTYH activity leads to somatic G>T transversions.In the North West (NW) European population, two founder missense mutations, the p.G396D and p.Y179C, compromise more than 90% of mutations reported.A somatic hotspot KRAS2 mutation in codon 12 (c.34 G>T) is present in about half of MAP-associated colon tumours.Keywords:MUTYH-associated polyposis;MUTYH gene;MAP;colorectal cancer;polyposis" @default.
• W1569098877 created "2016-06-24" @default.
• W1569098877 creator A5022096791 @default.
• W1569098877 creator A5038315564 @default.
• W1569098877 creator A5060068069 @default.
• W1569098877 date "2013-03-15" @default.
• W1569098877 modified "2023-09-24" @default.
• W1569098877 title "Molecular Genetics of MUTYH-Associated Polyposis" @default.
• W1569098877 cites W1975589890 @default.
• W1569098877 cites W1977127546 @default.
• W1569098877 cites W1987453064 @default.
• W1569098877 cites W2014820293 @default.
• W1569098877 cites W2022629597 @default.
• W1569098877 cites W2026895762 @default.
• W1569098877 cites W2032366833 @default.
• W1569098877 cites W2050599890 @default.
• W1569098877 cites W2053466172 @default.
• W1569098877 cites W2069008582 @default.
• W1569098877 cites W2087290238 @default.
• W1569098877 cites W2095301528 @default.
• W1569098877 cites W2097222740 @default.
• W1569098877 cites W2109598533 @default.
• W1569098877 cites W2112053462 @default.
• W1569098877 cites W2116485341 @default.
• W1569098877 cites W2120902002 @default.
• W1569098877 cites W2127319496 @default.
• W1569098877 cites W2137395554 @default.
• W1569098877 cites W2138455439 @default.
• W1569098877 cites W2142551575 @default.
• W1569098877 cites W2143590679 @default.
• W1569098877 cites W2144434262 @default.
• W1569098877 cites W2157227442 @default.
• W1569098877 cites W2160654022 @default.
• W1569098877 cites W2161679379 @default.
• W1569098877 cites W2167283539 @default.
• W1569098877 cites W2167430015 @default.
• W1569098877 cites W2171617167 @default.
• W1569098877 doi "https://doi.org/10.1002/9780470015902.a0024293" @default.
• W1569098877 hasPublicationYear "2013" @default.
• W1569098877 type Work @default.
• W1569098877 sameAs 1569098877 @default.
• W1569098877 citedByCount "1" @default.
• W1569098877 countsByYear W15690988772015 @default.
• W1569098877 crossrefType "reference-entry" @default.
• W1569098877 hasAuthorship W1569098877A5022096791 @default.
• W1569098877 hasAuthorship W1569098877A5038315564 @default.
• W1569098877 hasAuthorship W1569098877A5060068069 @default.
• W1569098877 hasConcept C104317684 @default.
• W1569098877 hasConcept C121608353 @default.
• W1569098877 hasConcept C134935766 @default.
• W1569098877 hasConcept C13514818 @default.
• W1569098877 hasConcept C141496672 @default.
• W1569098877 hasConcept C187206112 @default.
• W1569098877 hasConcept C2780814781 @default.
• W1569098877 hasConcept C501734568 @default.
• W1569098877 hasConcept C502942594 @default.
• W1569098877 hasConcept C526805850 @default.
• W1569098877 hasConcept C54355233 @default.
• W1569098877 hasConcept C60748783 @default.
• W1569098877 hasConcept C71924100 @default.
• W1569098877 hasConcept C86803240 @default.
• W1569098877 hasConceptScore W1569098877C104317684 @default.
• W1569098877 hasConceptScore W1569098877C121608353 @default.
• W1569098877 hasConceptScore W1569098877C134935766 @default.
• W1569098877 hasConceptScore W1569098877C13514818 @default.
• W1569098877 hasConceptScore W1569098877C141496672 @default.
• W1569098877 hasConceptScore W1569098877C187206112 @default.
• W1569098877 hasConceptScore W1569098877C2780814781 @default.
• W1569098877 hasConceptScore W1569098877C501734568 @default.
• W1569098877 hasConceptScore W1569098877C502942594 @default.
• W1569098877 hasConceptScore W1569098877C526805850 @default.
• W1569098877 hasConceptScore W1569098877C54355233 @default.
• W1569098877 hasConceptScore W1569098877C60748783 @default.
• W1569098877 hasConceptScore W1569098877C71924100 @default.
• W1569098877 hasConceptScore W1569098877C86803240 @default.
• W1569098877 hasLocation W15690988771 @default.
• W1569098877 hasOpenAccess W1569098877 @default.
• W1569098877 hasPrimaryLocation W15690988771 @default.
• W1569098877 hasRelatedWork W1974273347 @default.
• W1569098877 hasRelatedWork W1977605033 @default.
• W1569098877 hasRelatedWork W1979623625 @default.
• W1569098877 hasRelatedWork W2007705879 @default.
• W1569098877 hasRelatedWork W2052477583 @default.
• W1569098877 hasRelatedWork W2070357156 @default.
• W1569098877 hasRelatedWork W2072573996 @default.
• W1569098877 hasRelatedWork W2082178506 @default.
• W1569098877 hasRelatedWork W2107467813 @default.
• W1569098877 hasRelatedWork W2153117205 @default.
• W1569098877 hasRelatedWork W2167985757 @default.
• W1569098877 hasRelatedWork W2250163015 @default.
• W1569098877 hasRelatedWork W2370962239 @default.
• W1569098877 hasRelatedWork W2402602737 @default.
• W1569098877 hasRelatedWork W2468561329 @default.
• W1569098877 hasRelatedWork W2783952785 @default.
• W1569098877 hasRelatedWork W2802745023 @default.
• W1569098877 hasRelatedWork W2803482867 @default.
• W1569098877 hasRelatedWork W2908870333 @default.
• W1569098877 hasRelatedWork W2929697701 @default.
• W1569098877 isParatext "false" @default.
• W1569098877 isRetracted "false" @default.

• next