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 |
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 Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study.
|
27829682 |
2017 |
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 |
MUTYH-Associate Polyposis
|
|
0.800 |
CausalMutation
|
CLINVAR |
Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain.
|
25820570 |
2015 |
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 |
MUTYH-Associate Polyposis
|
|
0.800 |
CausalMutation
|
CLINVAR |
In MAP patients of European origin, the combined allele frequency of the mutations p.Tyr179Cys and p.Gly396Asp ranges between 50 and 82%, while these mutations have not been identified in Far Eastern Asian populations, supporting the hypothesis that a founder effect has occurred at some point in European history.
|
23361220 |
2014 |
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 |
CausalMutation
|
CLINVAR |
MUTYH-associated colorectal cancer and adenomatous polyposis.
|
23605219 |
2014 |
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.
|
23361220 |
2014 |
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 Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer.
|
24444654 |
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 |
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 |
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 |
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Cancer-associated variants and a common polymorphism of MUTYH exhibit reduced repair of oxidative DNA damage using a GFP-based assay in mammalian cells.
|
22926731 |
2012 |
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
The first mutations in the MYH gene reported in Moroccan colon cancer patients.
|
22266422 |
2012 |
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 Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer.
|
21171015 |
2011 |
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 |
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 |
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 Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis.
|
20418187 |
2010 |
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay.
|
19953527 |
2010 |
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 |