|
Polyposis, Adenomatous Intestinal
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Adenoma of large intestine
|
|
0.050 |
GeneticVariation
|
BEFREE |
E1317Q is significantly associated with multiple colorectal adenomas (OR = 11.
|
11001924 |
2000 |
|
Neoplasms
|
|
0.040 |
GeneticVariation
|
BEFREE |
But APC E1317Q sporadic mutation was found in one tumor sample.
|
15507235 |
2004 |
|
Hyperplastic Polyp
|
|
0.010 |
GeneticVariation
|
BEFREE |
Four patients had a germ-line E1317Q missense variant of APC that was not present in controls; one of these individuals had an unusually large number of metaplastic polyps of the colorectum.
|
9724771 |
1998 |
|
Colorectal Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Given the substantial size of our study and the consistency of our findings with the results of our meta-analyses, we conclude that it is unlikely that APC E1317Q is associated with a clinically meaningful risk of colorectal cancer.
|
17119068 |
2006 |
|
Malignant neoplasm of colon and/or rectum
|
|
0.080 |
GeneticVariation
|
BEFREE |
Given the substantial size of our study and the consistency of our findings with the results of our meta-analyses, we conclude that it is unlikely that APC E1317Q is associated with a clinically meaningful risk of colorectal cancer.
|
17119068 |
2006 |
|
Carcinogenesis
|
|
0.020 |
GeneticVariation
|
BEFREE |
However, when we used normal colonoscopy controls (E1317Q carrier frequency = 0.3%), the prevalence of E1317Q was significantly increased in CRC patients, in patients with < or =3 adenomas, and in CRC patients with intact mismatch repair status, suggesting a possible role for E1317Q in colorectal tumorigenesis.
|
14578138 |
2003 |
|
Colorectal Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
However, when we used normal colonoscopy controls (E1317Q carrier frequency = 0.3%), the prevalence of E1317Q was significantly increased in CRC patients, in patients with < or =3 adenomas, and in CRC patients with intact mismatch repair status, suggesting a possible role for E1317Q in colorectal tumorigenesis.
|
14578138 |
2003 |
|
Adenomatous Polyposis Coli
|
|
0.040 |
GeneticVariation
|
BEFREE |
In a large Scottish case-control study, we investigated the effects of adenomatous polyposis coli (APC) Asp1822Val (rs459552) and APC Glu1317Gln substitutions on colorectal cancer (CRC) risk and whether these associations were influenced by lifestyle and dietary factors.
|
18375958 |
2008 |
|
Colorectal Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
In a large Scottish case-control study, we investigated the effects of adenomatous polyposis coli (APC) Asp1822Val (rs459552) and APC Glu1317Gln substitutions on colorectal cancer (CRC) risk and whether these associations were influenced by lifestyle and dietary factors.
|
18375958 |
2008 |
|
Adenomatous Polyps
|
|
0.020 |
GeneticVariation
|
BEFREE |
In all, E1317Q was identified in two of 182 patients with adenomatous polyps (1.1%) and in two of 235 controls (0.8%) (p = 0.59).
|
12537656 |
2002 |
|
Adenoma of large intestine
|
|
0.050 |
GeneticVariation
|
BEFREE |
In conclusion, our results confirm that only a very small fraction of colorectal adenomas</span> may be associated with the presence of E1317Q.
|
12537656 |
2002 |
|
Colorectal Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
In Jewish CRC patients the E1317Q variant plays little if any role in colorectal cancer susceptibility and genetic testing for this variant is not warranted.
|
15929773 |
2005 |
|
Malignant neoplasm of colon and/or rectum
|
|
0.080 |
GeneticVariation
|
BEFREE |
In Jewish CRC patients the E1317Q variant plays little if any role in colorectal cancer susceptibility and genetic testing for this variant is not warranted.
|
15929773 |
2005 |
|
Adenoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
In the present study, 608 cases (377 patients with CRC, 145 patients with 4-100 lifetime adenomas, and 86 with < or =3 lifetime ade</span>nomas), and 679 controls (362 spouses and 317 patients with normal colonoscopy) were screened for the APC E1317Q variant.
|
14578138 |
2003 |
|
Colorectal Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
None of the subjects with a family history of colorectal cancer carried the E1317Q variant.
|
12537656 |
2002 |
|
Malignant neoplasm of colon and/or rectum
|
|
0.080 |
GeneticVariation
|
BEFREE |
None of the subjects with a family history of colorectal cancer carried the E1317Q variant.
|
12537656 |
2002 |
|
Adenomatous Polyposis Coli
|
|
0.040 |
GeneticVariation
|
BEFREE |
Real-time PCR assessed genetic variants of APC (I1307K and E1317Q), and four different single nucleotide polymorphisms (SNPs) in the CD24 gene: C170T (rs52812045), TG1527del (rs3838646), A1626G (rs1058881) and A1056G (rs1058818).
|
26394139 |
2015 |
|
Atrial Premature Complexes
|
|
0.020 |
GeneticVariation
|
BEFREE |
Real-time PCR assessed genetic variants of APC (I1307K and E1317Q), and four different single nucleotide polymorphisms (SNPs) in the CD24 gene: C170T (rs52812045), TG1527del (rs3838646), A1626G (rs1058881) and A1056G (rs1058818).
|
26394139 |
2015 |
|
Adenomatous Polyposis Coli
|
|
0.040 |
GeneticVariation
|
BEFREE |
Risk of colorectal neoplasia associated with the adenomatous polyposis coli E1317Q variant.
|
19474113 |
2009 |
|
Squamous cell carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
SSCP followed by direct DNA sequencing revealed APC mutations in 2/44 (5%) squamous cell carcinomas, a 2-bp deletion in codon 1465 (AGT-->A), and a GAA-->CAA (Glu-->Gln) mutation at codon 1317.
|
15072829 |
2004 |
|
Adenomatous Polyposis Coli
|
|
0.040 |
GeneticVariation
|
BEFREE |
The APC E1317Q variant was detected in 1.25% individuals undergoing testing.
|
17920230 |
2007 |
|
Atrial Premature Complexes
|
|
0.020 |
GeneticVariation
|
BEFREE |
The APC E1317Q variant was detected in 1.25% individuals undergoing testing.
|
17920230 |
2007 |
|
Adenomatous Polyps
|
|
0.020 |
GeneticVariation
|
BEFREE |
The APC E1317Q variant in adenomatous polyps and colorectal cancers.
|
14578138 |
2003 |
|
Colorectal Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The APC E1317Q and I1307K polymorphisms in non-colorectal cancers.
|
17920230 |
2007 |