|
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Given that these tumor features are associated with the response to immune checkpoint inhibitors, we administered nivolumab to a CRC patient who carried two inactive MUTYH alleles (p.Y179C and p.G396D) and previously experienced failure of chemotherapy.
|
31377904 |
2019 |
|
Colorectal Carcinoma
|
|
0.800 |
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 |
|
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Frequency of the common germline MUTYH mutations p.G396D and p.Y179C in patients diagnosed with colorectal cancer in Southern Brazil.
|
21424714 |
2011 |
|
Colorectal Carcinoma
|
|
0.800 |
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 |
2002 |
|
Colorectal Carcinoma
|
|
0.800 |
CausalMutation
|
CLINVAR |
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
|
22703879 |
2012 |
|
Colorectal Carcinoma
|
|
0.800 |
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 |
|
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
In addition, the two hotspot germline mutations MutYH Y165C and G382D seem to be infrequent in sporadic CRC.
|
18022921 |
2007 |
|
Congenital contractural arachnodactyly
|
|
0.010 |
GeneticVariation
|
BEFREE |
The aim of this study was to re-evaluate the MUTYH hotspot mutations p.Y179C (rs34612342) and p.G396D (rs36053993) as genetic susceptibility factors in a large CCA cohort.
|
24420788 |
2014 |
|
Endometrial Carcinoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Head and Neck Carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
In the present study, we investigated the effect of the DNA repair gene polymorphisms XPD Asp312Asn (G>A), APE1 Asp148Glu (T>G), and MUTYH Tyr165Cys (G>A) on the risk for head and neck cancer (HNC) in association with tobacco use in a population of Northeast India.
|
25916209 |
2015 |
|
Head and Neck Carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
In the present study we investigated the association between three polymorphisms of the MUTYH (Tyr165Cys, rs34612342), the OGG1 (Ser326Cys, rs1052133) and the XPD (Lys751Gln, rs13181) genes with head and neck cancer risk.
|
20571908 |
2011 |
|
Inflammatory Bowel Diseases
|
|
0.010 |
GeneticVariation
|
BEFREE |
Three individuals were biallelic MUTYH variant carriers (p.Y179C/p.G382D: typical MAP; p.Y179C/p.Q338H: atypical MAP with late onset and lower polyp burden; p.G382D/p.Q338H: inflammatory bowel disease), and four subjects were monoallelic mutation carriers.
|
22469480 |
2012 |
|
Liver carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
DNA from patients with HCC (n=48) or cholangiocarcinoma (n=84) compared to non-cancerous controls (n=308) were genotyped for the Y165C and G382D mutations in MYH.
|
16292541 |
2006 |
|
Malignant Head and Neck Neoplasm
|
|
0.020 |
GeneticVariation
|
BEFREE |
In the present study, we investigated the effect of the DNA repair gene polymorphisms XPD Asp312Asn (G>A), APE1 Asp148Glu (T>G), and MUTYH Tyr165Cys (G>A) on the risk for head and neck cancer (HNC) in association with tobacco use in a population of Northeast India.
|
25916209 |
2015 |
|
Malignant Head and Neck Neoplasm
|
|
0.020 |
GeneticVariation
|
BEFREE |
In the present study we investigated the association between three polymorphisms of the MUTYH (Tyr165Cys, rs34612342), the OGG1 (Ser326Cys, rs1052133) and the XPD (Lys751Gln, rs13181) genes with head and neck cancer risk.
|
20571908 |
2011 |
|
Malignant neoplasm of breast
|
|
0.020 |
GeneticVariation
|
BEFREE |
Carriers of the MYH Y165C or G382D mutant alleles do not appear to be at increased risk for breast cancer.
|
18454351 |
2009 |
|
Malignant neoplasm of breast
|
|
0.020 |
GeneticVariation
|
BEFREE |
Similarly, comparisons to UK10K controls revealed no significant increase in breast cancer risk associated with p.G396D (OR 1.20, p = 0.44) or p.Y179C (OR 1.71, p = 0.24).
|
30582135 |
2019 |
|
Malignant neoplasm of colon and/or rectum
|
|
0.050 |
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 |
2002 |
|
Malignant neoplasm of colon and/or rectum
|
|
0.050 |
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 |
|
Malignant neoplasm of colon and/or rectum
|
|
0.050 |
GeneticVariation
|
BEFREE |
Frequency of the common germline MUTYH mutations p.G396D and p.Y179C in patients diagnosed with colorectal cancer in Southern Brazil.
|
21424714 |
2011 |
|
Malignant neoplasm of colon and/or rectum
|
|
0.050 |
GeneticVariation
|
BEFREE |
Association tests demonstrated an increased odds ratio (OR) for CRC in carriers of the p.Tyr165Cys risk allele among fCRC patients, as compared to sporadic CRC patients and controls (OR 2.38; p=0.03).
|
18503156 |
2008 |
|
Malignant neoplasm of colon and/or rectum
|
|
0.050 |
GeneticVariation
|
BEFREE |
The two most common hMYH variants found in patients with colorectal cancer are Y165C and G382D.
|
15661655 |
2005 |
|
Malignant neoplasm of ovary
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Malignant neoplasm of pancreas
|
|
0.010 |
GeneticVariation
|
BEFREE |
Two patients with pancreatic cancer were identified as heterozygous for a MUTYH Y165C germline mutation.
|
20110747 |
2009 |
|
Malignant neoplasm of prostate
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|