MUTYH, mutY DNA glycosylase, 4595

N. diseases: 156; N. variants: 174
Disease: Colorectal Carcinoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.500 CausalMutation disease CLINVAR MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. 16557584 2006
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.500 CausalMutation disease CLINVAR The potential for increased clinical sensitivity in genetic testing for polyposis colorectal cancer through the analysis of MYH mutations in North American patients. 15635083 2005
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.500 CausalMutation disease CLINVAR Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer. 20848659 2010
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.500 CausalMutation disease CLINVAR Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. 19394335 2009
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.500 CausalMutation disease CLINVAR Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer. 19836313 2009
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.500 CausalMutation disease CLINVAR Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors. 11818965 2002
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.500 CausalMutation disease CLINVAR Germline susceptibility to colorectal cancer due to base-excision repair gene defects. 15931596 2005
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.500 CausalMutation disease CLINVAR Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas. 15366000 2004
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.500 CausalMutation disease CLINVAR Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. 22703879 2012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.500 CausalMutation disease CLINVAR Frequent mutation in North African patients with MUTYH-associated polyposis. 21443744 2011
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.500 CausalMutation disease CLINVAR Identification of MYH mutation carriers in colorectal cancer: a multicenter, case-control, population-based study. 17368238 2007
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.500 CausalMutation disease CLINVAR Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study. 19245865 2009
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.500 CausalMutation disease CLINVAR Leiden Open Variation Database of the MUTYH gene. 20725929 2010
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.500 CausalMutation disease CLINVAR Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations? 19531215 2009
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.500 CausalMutation disease CLINVAR MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. 15236166 2004
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.500 CausalMutation disease CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775 2009
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.500 CausalMutation disease CLINVAR High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis. 22744763 2012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.500 CausalMutation disease CLINVAR Implication of MYH in colorectal polyposis. 17122612 2006
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.500 CausalMutation disease CLINVAR Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). 16140997 2005
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.500 CausalMutation disease CLINVAR Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. 19032956 2009
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.500 CausalMutation disease CLINVAR MUTYH-associated colorectal cancer and adenomatous polyposis. 23605219 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.500 CausalMutation disease CLINVAR Characterization of mutant MUTYH proteins associated with familial colorectal cancer. 18534194 2008
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.500 Biomarker disease BEFREE We herein review the literature on MUTYH-associated colorectal cancer and adenomatous polyposis. 23605219 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.500 Biomarker disease BEFREE Clinical and molecular detection of inherited colorectal cancers in northeast Italy: a first prospective study of incidence of Lynch syndrome and MUTYH-related colorectal cancer in Italy. 22278153 2012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.500 Biomarker disease BEFREE Approximately 69% of the excess familial risk in FDRs can be ascribed to MSS CRC, and although the pattern of familial risk supports recessive susceptibility in addition to MUTYH, the absolute risk of CRC is at best modest. 19307499 2009