|
Adenoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
The risk of harboring adenoma(s) among subjects bearing the E1317Q variant was 1.29 (95% CI 0.09-18.0).
|
12537656 |
2002 |
|
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 |
|
Adenoma of large intestine
|
|
0.050 |
GeneticVariation
|
BEFREE |
The APC Variant p.Glu1317Gln predisposes to colorectal adenomas by a novel mechanism of relaxing the target for tumorigenic somatic APC mutations.
|
19701947 |
2009 |
|
Adenoma of large intestine
|
|
0.050 |
GeneticVariation
|
BEFREE |
The APC I1307K and E1317Q variants predispose to colorectal adenomas and carcinomas in Caucasians, but data are lacking in Asians.
|
15266213 |
2005 |
|
Adenoma of large intestine
|
|
0.050 |
GeneticVariation
|
BEFREE |
The APC E1317Q variant is associated with colorectal neoplasia, particularly colorectal adenomas, but further studies are still needed.
|
19474113 |
2009 |
|
Adenoma of large intestine
|
|
0.050 |
GeneticVariation
|
BEFREE |
E1317Q is significantly associated with multiple colorectal adenomas (OR = 11.
|
11001924 |
2000 |
|
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 |
|
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 |
|
Adenomatous Polyposis Coli
|
|
0.040 |
GeneticVariation
|
BEFREE |
The APC E1317Q variant was detected in 1.25% individuals undergoing testing.
|
17920230 |
2007 |
|
Adenomatous Polyposis Coli
|
|
0.040 |
GeneticVariation
|
BEFREE |
Risk of colorectal neoplasia associated with the adenomatous polyposis coli E1317Q variant.
|
19474113 |
2009 |
|
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 |
|
Adenomatous Polyps
|
|
0.020 |
GeneticVariation
|
BEFREE |
The APC E1317Q variant in adenomatous polyps and colorectal cancers.
|
14578138 |
2003 |
|
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 |
|
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 |
|
Atrial Premature Complexes
|
|
0.020 |
GeneticVariation
|
BEFREE |
The APC E1317Q variant was detected in 1.25% individuals undergoing testing.
|
17920230 |
2007 |
|
Carcinogenesis
|
|
0.020 |
GeneticVariation
|
BEFREE |
These data support a novel mechanism in which p.Glu1317Gln in combination with other weak mutant APC alleles (generating polypepetides with zero, two, or three 20AARs) can provide the necessary growth advantage for colorectal tumorigenesis.
|
19701947 |
2009 |
|
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 |
|
Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
The APC I1307K and E1317Q variants predispose to colorectal adenomas and carcinomas in Caucasians, but data are lacking in Asians.
|
15266213 |
2005 |
|
Colorectal Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
When independently assessed in 971 patients with colorectal cancer and 954 healthy control subjects, none of the identified missense APC alterations conferred a significantly increased risk for colorectal cancer, odds ratio (95 percent confidence intervals): S130G = 3.1 (0.29-32.25), E1317Q = 1.08 (0.59-2.74), G2502S = 1 (0.65-1.63), D1822V (heterozygous) = 0.79 (0.64-0.98), D1822V (homozygous) = 0.82 (0.63-1.27).
|
18612690 |
2008 |
|
Colorectal Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The APC E1317Q and I1307K polymorphisms in non-colorectal cancers.
|
17920230 |
2007 |
|
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 |
|
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 |
|
Colorectal Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Thus, our aim was to investigate the prevalence of I1307K and E1317Q in Swedish colorectal cancer patients in order to determine if these genetic variants are important predisposing factors to colorectal cancer in this population.
|
11267860 |
2001 |
|
Colorectal Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
None of the subjects with a family history of colorectal cancer carried the E1317Q variant.
|
12537656 |
2002 |
|
Colorectal Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Two of the missense variants found here, E1317Q and D1822V, have previously been related to a difference in risk of colorectal cancer.
|
15122587 |
2004 |