|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer.
|
20848659 |
2010 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Rectum-sparing surgery may be appropriate for biallelic MutYH-associated polyposis.
|
21178863 |
2010 |
|
Colorectal Carcinoma
|
|
0.800 |
CausalMutation
|
CLINVAR |
Leiden Open Variation Database of the MUTYH gene.
|
20725929 |
2010 |
|
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 |
Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer.
|
19836313 |
2009 |
|
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 |
CausalMutation
|
CLINVAR |
Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH.
|
19394335 |
2009 |
|
Colorectal Carcinoma
|
|
0.800 |
CausalMutation
|
CLINVAR |
Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.
|
19732775 |
2009 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.
|
19732775 |
2009 |
|
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 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 |
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 |
|
MUTYH-Associate Polyposis
|
|
0.800 |
CausalMutation
|
CLINVAR |
Characterization of mutant MUTYH proteins associated with familial colorectal cancer.
|
18534194 |
2008 |
|
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 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 |
Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis.
|
17489848 |
2007 |
|
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 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype.
|
16557584 |
2006 |
|
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 |
|
MUTYH-Associate Polyposis
|
|
0.800 |
CausalMutation
|
CLINVAR |
Novel findings in Swedish patients with MYH-associated polyposis: mutation detection and clinical characterization.
|
16616356 |
2006 |
|
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 |
CausalMutation
|
CLINVAR |
Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP).
|
16140997 |
2005 |
|
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 |
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 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 |