Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.400 GeneticVariation BEFREE We report a MUTYH variant, p.C306W (c.918C>G), with a tryptophan residue in place of native cysteine, that ligates the [4Fe4S] cluster in a patient with colonic polyposis and family history of early age colon cancer. 29915346

2018

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.400 GeneticVariation BEFREE We identified 266 probands (91% Caucasians) with a MUTYH mutation (41 biallelic and 225 monoallelic) from the Colon Cancer Family Registry. 27194394

2016

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.400 GeneticVariation BEFREE From the Colon Cancer Family Registry, we identified 10 carriers who had both a MUTYH mutation (6 with c.1187G>A p.(Gly396Asp), 3 with c.821G>A p.(Arg274Gln), and 1 with c.536A>G p.(Tyr179Cys)) and a MMR gene mutation (3 in MLH1, 6 in MSH2, and 1 in PMS2), 375 carriers of a single (monoallelic) MUTYH mutation alone, and 469 carriers of a MMR gene mutation alone. 26202870

2015

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.400 GeneticVariation BEFREE Despite the relatively small sample size of the current study, our findings suggest that the MAP is not a frequent cause of colon cancer in Morocco as we had expected, and the molecular analysis of MYH gene should be restricted to patients displaying the classical phenotype of MAP. 22266422

2012

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.400 GeneticVariation BEFREE In blinded specimens and colon cancer cell lines with defined mutations, ColoSeq correctly identified 28/28 (100%) pathogenic mutations in MLH1, MSH2, MSH6, PMS2, EPCAM, APC, and MUTYH, including single nucleotide variants (SNVs), small insertions and deletions, and large copy number variants. 22658618

2012

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.400 GeneticVariation BEFREE The biallelic germ line mutations that result in MUTYH-associated colon cancer are also discussed. 22252118

2012

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.400 GeneticVariation BEFREE Biallelic MUTYH exon 7 and 13 mutations are associated with a high frequency of somatic K-ras gene guanine to thymine transversion mutations at codon 12 position 1 in MUTYH-associated polyposis patients who have increased risk of colon cancer. 20110747

2009

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.400 GeneticVariation BEFREE The ORs for the MUTYH Gln324His and the APEX1 Asp148Glu were statistically significant for colon cancer (adjusted OR 3.95, 95%CI 1.28-12.20, p = 0.017 for MUTYH Gln324His ; adjusted OR 3.04, 95%CI 1.38-6.71, p = 0.006 for APEX1 Asp148Glu). 18823566

2008

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.400 GeneticVariation BEFREE Case-control studies of genetic polymorphisms in DNA repair enzymes suggest that the common variant Ser326Cys in OGG1 may be a risk factor for lung cancer, whereas a rare variant in OGG1 and germ line mutations in the corresponding mismatch repair gene MYH are risk factors for hereditary colon cancer. 16771692

2007

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.400 GeneticVariation BEFREE Increased frequency of disease-causing MYH mutations in colon cancer families. 16774938

2006

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.400 GeneticVariation BEFREE Correlation of polyp number and family history of colon cancer with germline MYH mutations. 16234049

2005