Polyposis, Adenomatous Intestinal
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
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 |
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 |
Adenoma of large intestine
|
|
0.050 |
GeneticVariation
|
BEFREE |
E1317Q is significantly associated with multiple colorectal adenomas (OR = 11.
|
11001924 |
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 |
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 |
Colorectal Carcinoma
|
|
0.100 |
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 |
None of the subjects with a family history of colorectal cancer carried the E1317Q variant.
|
12537656 |
2002 |
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 |
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 |
Colorectal Carcinoma
|
|
0.100 |
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 |
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 |
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 |
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 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 |
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 |