Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34612342
rs34612342
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.080 GeneticVariation BEFREE Biallelic p.(Tyr179Cys) MUTYH germline mutations were found in one patient (frequency 1.18%) with CRC, urothelial carcinoma and a sebaceous gland carcinoma. 24518836

2015

dbSNP: rs34612342
rs34612342
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.080 GeneticVariation BEFREE The mean ages of CRC diagnosis in patients were 58 years (homozygous G396D) and 52 years (compound heterozygous G396D/Y179C) versus 46 years (homozygous Y179C; P = .001, linear regression). 19032956

2009

dbSNP: rs34612342
rs34612342
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.080 GeneticVariation BEFREE Insight into the functional consequences of hMYH variants associated with colorectal cancer: distinct differences in the adenine glycosylase activity and the response to AP endonucleases of Y150C and G365D murine MYH. 15661655

2005

dbSNP: rs34612342
rs34612342
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.080 GeneticVariation BEFREE The Y165C and 1103delC mutations significantly reduce MUTYH protein stability and thus repair activity, whereas the G382D mutation produces dysfunctional protein only suggesting different functional molecular mechanisms by which the MAP phenotype may contribute to the development of CRC. 15987719

2005

dbSNP: rs34612342
rs34612342
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.080 GeneticVariation BEFREE Biallelic mutations for Y165C and/or G382D were not found in any of those undergoing screening colonoscopy with 0-3 polyps (n = 400), in those APC-negative patients with <20 adenomatous polyps (n = 26), or in those with CRC who were older than 50 years (n = 328). 15236166

2004

dbSNP: rs34612342
rs34612342
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.080 GeneticVariation BEFREE We used a population-based series of 1238 colorectal cancer patients and 1255 healthy control subjects from Ontario, Canada, to examine the risk of colorectal cancer among biallelic and monoallelic germline MYH Y165C and G382D mutation carriers. 15523092

2004

dbSNP: rs34612342
rs34612342
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.080 GeneticVariation BEFREE Here, we report the identification of seven further unrelated patients with >100 colorectal adenomas (six with colorectal cancer) and biallelic germline mutations in MYH: four were homozygous for truncating mutations, two were homozygous for Y165C and one was a Y165C/G382D compound heterozygote. 12393807

2003

dbSNP: rs34612342
rs34612342
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.080 GeneticVariation BEFREE To evaluate the contribution of MYH mutations to colorectal cancer burden on the population level, and to examine the MYH-associated phenotype in an unselected series of colorectal cancer patients, we determined the frequencies of Y165C and G382D MYH mutations in a population-based series of 1042 Finnish colorectal cancer patients. 12937124

2003