|
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 |
The APC I1307K and E1317Q variants predispose to colorectal adenomas and carcinomas in Caucasians, but data are lacking in Asians.
|
15266213 |
2005 |
|
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 |
|
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 |
|
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 |
|
Neoplasms
|
|
0.040 |
GeneticVariation
|
BEFREE |
The crude and adjusted risks of neoplasia associated with the E1317Q variant were calculated.
|
19474113 |
2009 |
|
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 |
|
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 |
|
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 |
|
Colorectal Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
This finding suggests that E1317Q is unlikely to be associated with anything more than a moderate increase in risk of colorectal cancer.
|
10737725 |
2000 |
|
Malignant neoplasm of colon and/or rectum
|
|
0.080 |
GeneticVariation
|
BEFREE |
This finding suggests that E1317Q is unlikely to be associated with anything more than a moderate increase in risk of colorectal cancer.
|
10737725 |
2000 |
|
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 |
|
Malignant neoplasm of colon and/or rectum
|
|
0.080 |
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 |
|
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 |
|
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 |
|
Malignant neoplasm of colon and/or rectum
|
|
0.080 |
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 |
|
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 |
|
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 |
|
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 |
|
Malignant neoplasm of colon and/or rectum
|
|
0.080 |
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 |
While wild type APC sequences were found in two mummies, we discovered the E1317Q missense mutation, known to be a colorectal cancer predisposing mutation, in a large intestine tissue of an 18th century mummy.
|
26863316 |
2016 |
|
Malignant neoplasm of colon and/or rectum
|
|
0.080 |
GeneticVariation
|
BEFREE |
While wild type APC sequences were found in two mummies, we discovered the E1317Q missense mutation, known to be a colorectal cancer predisposing mutation, in a large intestine tissue of an 18th century mummy.
|
26863316 |
2016 |