×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Colorectal Carcinoma
0.800
CausalMutation
CLINVAR
A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
20020535 2010
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Colorectal Carcinoma
0.800
CausalMutation
CLINVAR
Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.
22753075 2012
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Colorectal Carcinoma
0.800
CausalMutation
CLINVAR
The MLH1 variants p.Arg265Cys and p.Lys618Ala affect protein stability while p.Leu749Gln affects heterodimer formation.
18205192 2008
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal Carcinoma
0.800
CausalMutation
CLINVAR
×
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
Colorectal Carcinoma
0.800
CausalMutation
CLINVAR
×
Entrez Id: 324
Gene Symbol: APC
APC
Colorectal Carcinoma
0.800
CausalMutation
CLINVAR
×
Entrez Id: 1630
Gene Symbol: DCC
DCC
Colorectal Carcinoma
0.700
CausalMutation
CLINVAR
×
Entrez Id: 699
Gene Symbol: BUB1
BUB1
Colorectal Carcinoma
0.700
CausalMutation
CLINVAR
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Colorectal Carcinoma
0.700
CausalMutation
CLINVAR
×
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
Colorectal Carcinoma
0.700
CausalMutation
CLINVAR
×
Entrez Id: 7157
Gene Symbol: TP53
TP53
Colorectal Carcinoma
0.700
CausalMutation
CLINVAR
×
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
Colorectal Carcinoma
0.700
CausalMutation
CLINVAR
×
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
Colorectal Carcinoma
0.660
CausalMutation
CLINVAR
×
Entrez Id: 2033
Gene Symbol: EP300
EP300
Colorectal Carcinoma
0.640
CausalMutation
CLINVAR
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.
26486927 2016
×
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
Colorectal Carcinoma
0.500
CausalMutation
CLINVAR
MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype.
16557584 2006
×
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
Colorectal Carcinoma
0.500
CausalMutation
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
×
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
Colorectal Carcinoma
0.500
CausalMutation
CLINVAR
Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer.
20848659 2010
×
Entrez Id: 8313
Gene Symbol: AXIN2
AXIN2
Colorectal Carcinoma
0.500
CausalMutation
CLINVAR
×
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
Colorectal Carcinoma
0.500
CausalMutation
CLINVAR
Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH.
19394335 2009
×
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
Colorectal Carcinoma
0.500
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
×
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
Colorectal Carcinoma
0.500
CausalMutation
CLINVAR
Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors.
11818965 2002
×
Entrez Id: 4513
Gene Symbol: COX2
COX2
Colorectal Carcinoma
0.500
CausalMutation
CLINVAR
×
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
Colorectal Carcinoma
0.500
CausalMutation
CLINVAR
Germline susceptibility to colorectal cancer due to base-excision repair gene defects.
15931596 2005
×
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
Colorectal Carcinoma
0.500
CausalMutation
CLINVAR
Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas.
15366000 2004
×
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
Colorectal Carcinoma
0.500
CausalMutation
CLINVAR
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
22703879 2012