|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Rectum-sparing surgery may be appropriate for biallelic MutYH-associated polyposis.
|
21178863 |
2010 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH.
|
19394335 |
2009 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.
|
19732775 |
2009 |
|
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 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants.
|
21063410 |
2010 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study.
|
16492921 |
2006 |
|
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 |
Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis.
|
19032956 |
2009 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Characterization of mutant MUTYH proteins associated with familial colorectal cancer.
|
18534194 |
2008 |
|
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 Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP).
|
16140997 |
2005 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas.
|
19793053 |
2009 |
|
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 |
The two most common hMYH variants found in patients with colorectal cancer are Y165C and G382D.
|
15661655 |
2005 |
|
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 Carcinoma
|
|
0.800 |
CausalMutation
|
CLINVAR |
MUTYH-associated colorectal cancer and adenomatous polyposis.
|
23605219 |
2014 |
|
Colorectal Carcinoma
|
|
0.800 |
CausalMutation
|
CLINVAR |
Leiden Open Variation Database of the MUTYH gene.
|
20725929 |
2010 |
|
Colorectal Carcinoma
|
|
0.800 |
CausalMutation
|
CLINVAR |
Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.
|
19732775 |
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 |
|
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 |