|
MUTYH-Associate Polyposis
|
|
0.800 |
GeneticVariation
|
BEFREE |
MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.
|
23361220 |
2014 |
|
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
The two most common hMYH variants found in patients with colorectal cancer are Y165C and G382D.
|
15661655 |
2005 |
|
MUTYH-Associate Polyposis
|
|
0.800 |
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 |
|
Colorectal Carcinoma
|
|
0.800 |
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 |
|
Colorectal Carcinoma
|
|
0.800 |
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 |
2014 |
|
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Homozygote carriers of G396D had nonsignificantly elevated risk of CRC (OR = 11.0, 95% CI: 0.91-213.9, p = 0.06), and combined bi-allelic carriers of G396D and Y179C had increased risk, OR = 17.4, 95% CI = (1.9-316.7, p = 0.009).
|
22371070 |
2012 |
|
Colorectal Carcinoma
|
|
0.800 |
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 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
|
MUTYH-Associate Polyposis
|
|
0.800 |
GeneticVariation
|
BEFREE |
The present study was carried out among the Moroccan population, using molecular epidemiology methods, to estimate the prevalence of homozygote or compound heterozygote genotype conferring MAP due to three mutations reported as recurrent in MAP: c.494A>G (Y165C), c.1145G>A (G382D) and c.1186_1187insGG (p.Glu396fsX42).
|
20939750 |
2011 |
|
MUTYH-Associate Polyposis
|
|
0.800 |
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 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
|
MUTYH-Associate Polyposis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Cell lines that stably express the MUTYH-associated polyposis variants G382D and Y165C have significantly lower OG:A repair versus wild-type MEFs and MEFs expressing human wild-type MUTYH.
|
22926731 |
2012 |
|
MUTYH-Associate Polyposis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Patients with a homozygous G396D mutation or compound heterozygous G396D/Y179C mutations presented later with MAP and had a significantly lower hazard of developing CRC than patients with a homozygous Y179C mutation (P < .001).
|
19032956 |
2009 |
|
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
The association of the p.Tyr165Cys mutation with fCRC indicates that this variant represents a susceptibility factor in a defined subgroup of CRC patients with a positive family history.
|
18503156 |
2008 |
|
MUTYH-Associate Polyposis
|
|
0.800 |
GeneticVariation
|
BEFREE |
In the Asian population, Y179C and G396D are uncommon, whereas other variants are suggested to be the major causes of MAP.
|
23605219 |
2014 |
|
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
MUTYH p.Y179C mutation was associated with an increased risk of CRC among Egyptian patients rather than MUTYH p.G396D mutation.
|
27631816 |
2017 |
|
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 |
|
MUTYH-Associate Polyposis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Two common mutations, p.Y179C and p.G396D, are present in approximately 70-80% of MAP in European families with identified MUTYH germline mutations.
|
21424714 |
2011 |
|
MUTYH-Associate Polyposis
|
|
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 |
|
MUTYH-Associate Polyposis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Biallelic mutations in the MUTYH gene predispose individuals to MUTYH-associated polyposis (MAP), and the most commonly observed mutation in some MAP populations is Y165C.
|
30698731 |
2019 |
|
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 |