Polyposis, Adenomatous Intestinal
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
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 |
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 |
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 |
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 |
Two of the missense variants found here, E1317Q and D1822V, have previously been related to a difference in risk of colorectal cancer.
|
15122587 |
2004 |
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 |
Colorectal Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
None of the subjects with a family history of colorectal cancer carried the E1317Q variant.
|
12537656 |
2002 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 of large intestine
|
|
0.050 |
GeneticVariation
|
BEFREE |
E1317Q is significantly associated with multiple colorectal adenomas (OR = 11.
|
11001924 |
2000 |