|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
An in-frame exon-skipping MUTYH mutation is associated with early-onset colorectal cancer.
|
20628285 |
2010 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
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
|
0.710 |
Biomarker
|
disease |
CLINGEN |
Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability.
|
23108399 |
2013 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
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
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers.
|
12707038 |
2003 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
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
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas.
|
14999774 |
2004 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis.
|
18091433 |
2007 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis.
|
22865608 |
2013 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
MutYH mutation carriers have increased breast cancer risk.
|
21952991 |
2012 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Idiopathic gastric acid hypersecretion in a patient with MUTYH-associated polyposis.
|
19806110 |
2009 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas.
|
15366000 |
2004 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Distinct functional consequences of MUTYH variants associated with colorectal cancer: Damaged DNA affinity, glycosylase activity and interaction with PCNA and Hus1.
|
26377631 |
2015 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
The role of MYH and microsatellite instability in the development of sporadic colorectal cancer.
|
17031395 |
2006 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Rectum-sparing surgery may be appropriate for biallelic MutYH-associated polyposis.
|
21178863 |
2010 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers.
|
12707038 |
2003 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay.
|
19953527 |
2010 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants.
|
21063410 |
2010 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Increased frequency of disease-causing MYH mutations in colon cancer families.
|
16774938 |
2006 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Idiopathic gastric acid hypersecretion in a patient with MUTYH-associated polyposis.
|
19806110 |
2009 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis.
|
17489848 |
2007 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
The potential for increased clinical sensitivity in genetic testing for polyposis colorectal cancer through the analysis of MYH mutations in North American patients.
|
15635083 |
2005 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
|
25980754 |
2015 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients.
|
16287072 |
2006 |