|
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 |
|
Polyposis, Adenomatous Intestinal
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Neoplasms
|
|
0.040 |
GeneticVariation
|
BEFREE |
But APC E1317Q sporadic mutation was found in one tumor sample.
|
15507235 |
2004 |
|
Neoplasms
|
|
0.040 |
GeneticVariation
|
BEFREE |
The crude and adjusted risks of neoplasia associated with the E1317Q variant were calculated.
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |