×
Entrez Id: 324
Gene Symbol: APC
APC
Colorectal Carcinoma
0.800
SusceptibilityMutation
CLINVAR
The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews.
23896379 2013
×
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
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
The MLH1 variants p.Arg265Cys and p.Lys618Ala affect protein stability while p.Leu749Gln affects heterodimer formation.
18205192 2008
×
Entrez Id: 324
Gene Symbol: APC
APC
Colorectal Carcinoma
0.800
SusceptibilityMutation
CLINVAR
APC I1307K increases risk of transition from polyp to colorectal carcinoma in Ashkenazi Jews.
11159880 2001
×
Entrez Id: 324
Gene Symbol: APC
APC
Colorectal Carcinoma
0.800
SusceptibilityMutation
CLINVAR
The APCI1307K allele and cancer risk in a community-based study of Ashkenazi Jews.
9731533 1998
×
Entrez Id: 324
Gene Symbol: APC
APC
Colorectal Carcinoma
0.800
SusceptibilityMutation
CLINVAR
The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history.
9724771 1998
×
Entrez Id: 324
Gene Symbol: APC
APC
Colorectal Carcinoma
0.800
SusceptibilityMutation
CLINVAR
Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC.
9288102 1997
×
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: 324
Gene Symbol: APC
APC
Colorectal Carcinoma
0.800
GeneticVariation
CLINVAR
×
Entrez Id: 1630
Gene Symbol: DCC
DCC
Colorectal Carcinoma
0.700
CausalMutation
CLINVAR
×
Entrez Id: 7157
Gene Symbol: TP53
TP53
Colorectal Carcinoma
0.700
GeneticVariation
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: 11200
Gene Symbol: CHEK2
CHEK2
Colorectal Carcinoma
0.700
GeneticVariation
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 colorectal cancer and adenomatous polyposis.
23605219 2014
×
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
×
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
Colorectal Carcinoma
0.500
CausalMutation
CLINVAR
High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis.
22744763 2012