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 |
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 |
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 |
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 |
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 |
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 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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
But APC E1317Q sporadic mutation was found in one tumor sample.
|
15507235 |
2004 |
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 |
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 E1317Q variant is associated with colorectal neoplasia, particularly colorectal adenomas, but further studies are still needed.
|
19474113 |
2009 |