|
Neoplasms
|
|
0.010 |
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 |
|
Adenoma of large intestine
|
|
0.010 |
GeneticVariation
|
BEFREE |
The 2 main missense mutations c.1145G>A, p.Gly382Asp and c.494A>G, p.Tyr165Cys were associated with the development of colorectal adenomas/serrated polyps in these monoallelic carriers.
|
30640315 |
2019 |
|
Neuroendocrine Tumors
|
|
0.010 |
GeneticVariation
|
BEFREE |
A heterozygous variant causing an amino acid substitution p.(Gly396Asp) in the MutY DNA glycosylase gene (<i>MUTYH</i>) was significantly enriched in SI-NET patients (minor allele frequencies 0.013 and 0.003 for patients and controls respectively) and resulted in odds ratio of 5.09 (95% confidence interval 1.56-14.74; <i>P</i> value = 0.0038).
|
28634180 |
2017 |
|
Familial (FPAH)
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our results suggest that p.(Gly396Asp) in <i>MUTYH</i>, and potentially other mutations in additional members of the same DNA excision-repair pathway (such as the <i>OGG1</i> gene) might be involved in driving the tumorigenesis leading to familial and sporadic SI-NETs.
|
28634180 |
2017 |
|
Carcinogenesis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our results suggest that p.(Gly396Asp) in <i>MUTYH</i>, and potentially other mutations in additional members of the same DNA excision-repair pathway (such as the <i>OGG1</i> gene) might be involved in driving the tumorigenesis leading to familial and sporadic SI-NETs.
|
28634180 |
2017 |
|
Malignant tumor of colon
|
|
0.010 |
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 |
|
Colon Carcinoma
|
|
0.010 |
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 |
|
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 |
|
Multiple polyps
|
|
0.010 |
GeneticVariation
|
BEFREE |
We also propose that the G382D MYH mutation may play a dominant rather than a recessive role in polyposis and cancer development.
|
23625202 |
2013 |
|
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 |
|
melanoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
No significant associations were observed between the Y165C, G382D and V479F MUTYH mutations and risk of melanoma development or aggressiveness.
|
21279954 |
2011 |
|
Cholangiocarcinoma
|
|
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 |
|
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 Neoplasms
|
|
0.020 |
GeneticVariation
|
BEFREE |
In vitro analysis of Q324H MUTYH expressed in insect cells showed that it has reduced enzyme activity similar to that of the known cancer variant G382D.
|
22926731 |
2012 |
|
Primary malignant neoplasm
|
|
0.020 |
GeneticVariation
|
BEFREE |
In vitro analysis of Q324H MUTYH expressed in insect cells showed that it has reduced enzyme activity similar to that of the known cancer variant G382D.
|
22926731 |
2012 |
|
Adenoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
One patient with 25 adenomas without colorectal cancer carried the c.1145G>A mutation at a homozygote state and one patient with 3 polyps was heterozygote for the mutation c.1145G>A.
|
22266422 |
2012 |
|
Malignant Neoplasms
|
|
0.020 |
GeneticVariation
|
BEFREE |
Variants OGG1 c.137G>A; MUTYH c.1187G>A were detected in Amsterdam I families and cosegregate with cancer.
|
21355073 |
2011 |
|
Primary malignant neoplasm
|
|
0.020 |
GeneticVariation
|
BEFREE |
Variants OGG1 c.137G>A; MUTYH c.1187G>A were detected in Amsterdam I families and cosegregate with cancer.
|
21355073 |
2011 |
|
Adenoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
Fourteen years of colonoscopic surveillance of an MAP patient (compound heterozygous p.Y165C/p.G382D) showed that adenoma development was slow after initial diagnosis of a single colorectal carcinoma at the age of 44, but then the annual number of new adenomas increased substantially in the patient's early fifties.
|
19672709 |
2010 |
|
Adenomatous Polyps
|
|
0.020 |
GeneticVariation
|
BEFREE |
Using Fisher's exact test and logistic regression, we compared the frequency of the known disease-causing MYH mutations Y165C, G382D and 466delE in 137 probands (117 cases with CRC and 20 cases diagnosed on the basis of adenomatous polyps only) from families with three or more CRCs but negative for mutations in the MMR genes and in 967 healthy controls with comparable ethnic backgrounds.
|
16774938 |
2006 |
|
Adenomatous Polyps
|
|
0.020 |
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 |
|
Malignant neoplasm of breast
|
|
0.030 |
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 |
|
Breast Carcinoma
|
|
0.030 |
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 breast
|
|
0.030 |
GeneticVariation
|
BEFREE |
Breast cancer cases had a 6.7% prevalence of G396D, yielding a significantly elevated risk estimate for breast cancer (odds ratio, 1.86; 95% confidence interval, 1.02-3.39; P = .039).
|
21952991 |
2012 |
|
Breast Carcinoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
Breast cancer cases had a 6.7% prevalence of G396D, yielding a significantly elevated risk estimate for breast cancer (odds ratio, 1.86; 95% confidence interval, 1.02-3.39; P = .039).
|
21952991 |
2012 |