|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
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 |
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 |
|
Adenomatous Polyposis Coli
|
|
0.040 |
GeneticVariation
|
BEFREE |
The APC E1317Q variant was detected in 1.25% individuals undergoing testing.
|
17920230 |
2007 |
|
Atrial Premature Complexes
|
|
0.020 |
GeneticVariation
|
BEFREE |
The APC E1317Q variant was detected in 1.25% individuals undergoing testing.
|
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 |
|
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 |
|
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 |
|
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 |
|
Neoplasms
|
|
0.040 |
GeneticVariation
|
BEFREE |
But APC E1317Q sporadic mutation was found in one tumor sample.
|
15507235 |
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 |