|
Pilomatrixoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
FAMILIAL ADENOMATOUS POLYPOSIS 2 WITH PILOMATRICOMAS
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Endometrial Carcinoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Malignant neoplasm of breast
|
|
0.030 |
GeneticVariation
|
BEFREE |
Breast cancer cases had a 6.7% prevalence of G396D, yielding a significantly elevated risk estimate for breast cancer (odds ratio, 1.86; 95% confidence interval, 1.02-3.39; P = .039).
|
21952991 |
2012 |
|
Breast Carcinoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
Breast cancer cases had a 6.7% prevalence of G396D, yielding a significantly elevated risk estimate for breast cancer (odds ratio, 1.86; 95% confidence interval, 1.02-3.39; P = .039).
|
21952991 |
2012 |
|
MUTYH-Associate Polyposis
|
|
0.770 |
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
|
|
0.770 |
CausalMutation
|
CLINVAR |
MAP patients carrying the p.Glu480del variant presented with a younger age at polyp diagnosis as compared to patients carrying p.Gly396Asp and p.Tyr179Cys variants.
|
27829682 |
2017 |
|
Small intestine carcinoid
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A MUTYH germline mutation is associated with small intestinal neuroendocrine tumors.
|
28634180 |
2017 |
|
Neuroendocrine Tumors
|
|
0.010 |
GeneticVariation
|
BEFREE |
A heterozygous variant causing an amino acid substitution p.(Gly396Asp) in the MutY DNA glycosylase gene (<i>MUTYH</i>) was significantly enriched in SI-NET patients (minor allele frequencies 0.013 and 0.003 for patients and controls respectively) and resulted in odds ratio of 5.09 (95% confidence interval 1.56-14.74; <i>P</i> value = 0.0038).
|
28634180 |
2017 |
|
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 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants.
|
21063410 |
2010 |
|
Stomach Neoplasms
|
|
0.700 |
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 |
GeneticVariation
|
UNIPROT |
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 |
Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer.
|
20848659 |
2010 |
|
MUTYH-Associate Polyposis
|
|
0.770 |
CausalMutation
|
CLINVAR |
Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer.
|
20848659 |
2010 |
|
Stomach Neoplasms
|
|
0.700 |
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 |
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 |
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 |
|
MUTYH-Associate Polyposis
|
|
0.770 |
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 |
|
Stomach Neoplasms
|
|
0.700 |
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 |
|
MUTYH-Associate Polyposis
|
|
0.770 |
GeneticVariation
|
BEFREE |
Altogether c.933+3A>C and the two common Caucasian mutations p.Tyr179Cys and p.Gly396Asp represent about 60% of MUTYH alterations in MAP patients from North-Eastern Italy, suggesting the opportunity to perform targeted molecular screening for these variants in the diagnostic setting.
|
22865608 |
2013 |
|
Adenomatous Polyposis Coli
|
|
0.030 |
GeneticVariation
|
BEFREE |
Among patients with multiple adenomas, biallelic MYH mutations account for approximately 30% of APC mutation negative cases and two thirds of these carry mutations other than the "common" Y165C and G382D variants.
|
17219385 |
2007 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis.
|
19032956 |
2009 |
|
Stomach Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis.
|
19032956 |
2009 |