Neoplasms
|
|
0.040 |
GeneticVariation
|
BEFREE |
But APC E1317Q sporadic mutation was found in one tumor sample.
|
15507235 |
2004 |
Adenomatous Polyposis Coli
|
|
0.040 |
GeneticVariation
|
BEFREE |
The APC E1317Q variant was detected in 1.25% individuals undergoing testing.
|
17920230 |
2007 |
Neoplasms
|
|
0.040 |
GeneticVariation
|
BEFREE |
The crude and adjusted risks of neoplasia associated with the E1317Q variant were calculated.
|
19474113 |
2009 |
Adenomatous Polyposis Coli
|
|
0.040 |
GeneticVariation
|
BEFREE |
Risk of colorectal neoplasia associated with the adenomatous polyposis coli E1317Q variant.
|
19474113 |
2009 |
Neoplasms
|
|
0.040 |
GeneticVariation
|
BEFREE |
We compared the patterns of somatic APC mutations in tumors from patients with attenuated familial adenomatous polyposis (AFAP) who did, or did not, coinherit p.Glu1317Gln with their AFAP-causing APC mutations.
|
19701947 |
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 |
Neoplasms
|
|
0.040 |
GeneticVariation
|
BEFREE |
The APC variant E1317Q does not appear to be associated with increased risk for colorectal neoplasia in the general population.
|
14578138 |
2003 |
Adenomatous Polyps
|
|
0.020 |
GeneticVariation
|
BEFREE |
The APC E1317Q variant in adenomatous polyps and colorectal cancers.
|
14578138 |
2003 |
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 |
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 |
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 |
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 |
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 |
The APC E1317Q variant was detected in 1.25% individuals undergoing testing.
|
17920230 |
2007 |
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 |
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 |
Medulloblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
The medulloblastoma cell line MHH-MED-2 carried a Glu1317Gln missense germline variant and a sporadic MB sample showed a somatic Pro1319Leu substitution.
|
11433413 |
2001 |
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 |
Colorectal Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history.
|
9724771 |
1998 |
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
|
|
0.010 |
GeneticVariation
|
BEFREE |
We compared the patterns of somatic APC mutations in tumors from patients with attenuated familial adenomatous polyposis (AFAP) who did, or did not, coinherit p.Glu1317Gln with their AFAP-causing APC mutations.
|
19701947 |
2009 |
Familial (FPAH)
|
|
0.010 |
GeneticVariation
|
BEFREE |
To this end, sequence analysis was carried out of the APC gene in order to identify any I1307K and E1317Q variants in 106 unselected cases and 88 hereditary/familial colorectal cancer cases including 22 cases of hereditary non-polyposis colorectal cancer (HNPCC) fulfilling the Amsterdam criteria.
|
11267860 |
2001 |
Polyposis, Adenomatous Intestinal
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|