|
rs459552
|
|
Adenomatous Polyposis Coli
|
|
0.070 |
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 |
|
rs459552
|
|
Adenomatous Polyposis Coli
|
|
0.070 |
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 |
|
rs1801166
|
|
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 |
|
rs587782868
|
|
Adenomatous Polyposis Coli
|
|
0.030 |
GeneticVariation
|
BEFREE |
The missense G382D mutation, already described in north and south European populations was found in the MYH gene at the homozygous state in the fourth patient with moderate AP.
|
18425378 |
2008 |
|
rs753314927
|
|
Adenomatous Polyposis Coli
|
|
0.010 |
GeneticVariation
|
BEFREE |
These findings strongly support a pathogenic role of the APC N1026S variant in the AFAP phenotype, reinforcing the importance of functional characterization of APC variants for genetic counseling.
|
18166348 |
2008 |
|
rs749782426
|
|
Adenomatous Polyposis Coli
|
|
0.010 |
GeneticVariation
|
BEFREE |
A family is described here whereby an unaffected mother with no detectible mutation in APC, transmitted the identical APC c.4729G>T (p.Glu1577X) mutation to two children.
|
18026870 |
2008 |
|
rs730882128
|
|
Adenomatous Polyposis Coli
|
|
0.010 |
GeneticVariation
|
BEFREE |
A family is described here whereby an unaffected mother with no detectible mutation in APC, transmitted the identical APC c.4729G>T (p.Glu1577X) mutation to two children.
|
18026870 |
2008 |
|
rs454886
|
|
Adenomatous Polyposis Coli
|
|
0.010 |
GeneticVariation
|
BEFREE |
Of these, rs454886 in the APC tumor suppressor gene was associated with increased breast cancer risk (per allele odds ratio, 1.23; 95% confidence intervals, 1.05-1.43; P(trend) = 0.01).
|
18708403 |
2008 |
|
rs150973053
|
|
Adenomatous Polyposis Coli
|
|
0.010 |
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 |
|
rs1801166
|
|
Adenomatous Polyposis Coli
|
|
0.040 |
GeneticVariation
|
BEFREE |
Risk of colorectal neoplasia associated with the adenomatous polyposis coli E1317Q variant.
|
19474113 |
2009 |
|
rs459552
|
|
Adenomatous Polyposis Coli
|
|
0.070 |
GeneticVariation
|
BEFREE |
Fat intake modified the APC D1822V-adenoma association, but further studies are warranted.
|
20510605 |
2010 |
|
rs41115
|
|
Adenomatous Polyposis Coli
|
|
0.010 |
GeneticVariation
|
BEFREE |
Four tSNPs (rs3846716, rs2431238, rs41115, and rs565453) and a specific haplotype (GTAAGA) in the APC tumor suppressor gene were associated with a 0.57- to 0.71-fold lower risk of localized PCa.
|
19777185 |
2010 |
|
rs3846716
|
|
Adenomatous Polyposis Coli
|
|
0.010 |
GeneticVariation
|
BEFREE |
This is the first report documenting the potential prognostic role of the APC rs3846716 GA/AA genotype on PSA recurrence after RP.
|
19777185 |
2010 |
|
rs2229992
|
|
Adenomatous Polyposis Coli
|
|
0.010 |
GeneticVariation
|
BEFREE |
In the present study we analyzed the association of genotype and haplotype status of two single nucleotide polymorphisms (SNPs), rs2229992 and rs11283943, in the APC and MCC genes, respectively, with an increased risk of breast carcinogenesis in a breast cancer and control population from eastern India.
|
21279955 |
2011 |
|
rs62619935
|
|
Adenomatous Polyposis Coli
|
|
0.720 |
GeneticVariation
|
BEFREE |
Sequence analysis revealed that a patient with a high level of ASE who did not have a family history of CRC carried a nonsense mutation in APC (p.Arg216X).
|
21995949 |
2012 |
|
rs137854580
|
|
Adenomatous Polyposis Coli
|
|
0.720 |
GeneticVariation
|
BEFREE |
Sequence analysis revealed that a patient with a high level of ASE who did not have a family history of CRC carried a nonsense mutation in APC (p.Arg216X).
|
21995949 |
2012 |
|
rs1801155
|
|
Adenomatous Polyposis Coli
|
|
0.060 |
GeneticVariation
|
BEFREE |
An APC mutation (I1307K) was found in an index case of a non-Jewish woman and her son with attenuated familial adenomatous polyposis (A-FAP) and no family history of cancer.
|
22180177 |
2012 |
|
rs1463038513
|
|
Adenomatous Polyposis Coli
|
|
0.060 |
GeneticVariation
|
BEFREE |
An APC mutation (I1307K) was found in an index case of a non-Jewish woman and her son with attenuated familial adenomatous polyposis (A-FAP) and no family history of cancer.
|
22180177 |
2012 |
|
rs559510809
|
|
Adenomatous Polyposis Coli
|
|
0.010 |
GeneticVariation
|
BEFREE |
We present the physical history, clinical presentation, diagnosis and treatment of a patient with a novel germline APC mutation, the W421X mutation, which resulted in FAP presenting with about a hundred colorectal polyps, gastric hyperplastic polyps and multiple aggressive intra-abdominal and extra-abdominal desmoid tumors.
|
22449158 |
2012 |
|
rs1801155
|
|
Adenomatous Polyposis Coli
|
|
0.060 |
GeneticVariation
|
BEFREE |
The APC p.I1307K gene variant is an important risk factor for colorectal neoplasia in average risk Ashkenazi Jews.
|
23896379 |
2013 |
|
rs1463038513
|
|
Adenomatous Polyposis Coli
|
|
0.060 |
GeneticVariation
|
BEFREE |
The APC p.I1307K gene variant is an important risk factor for colorectal neoplasia in average risk Ashkenazi Jews.
|
23896379 |
2013 |
|
rs1816769
|
|
Adenomatous Polyposis Coli
|
|
0.010 |
GeneticVariation
|
BEFREE |
Survival tree analysis identified a higher-order genetic interaction profile consisting of the APC rs565453, CTNNB1 2293303, and APC rs1816769 that was significantly associated with overall survival.
|
23405266 |
2013 |
|
rs397515734
|
|
Adenomatous Polyposis Coli
|
|
0.710 |
GeneticVariation
|
BEFREE |
In them, 2 rare variants (c.694C>T in APC and c.1690A>G in MSH2) might be the putative causal mutations for familial adenomatous polyposis (FAP) since the rarity of the mutated allele in normal controls. c.694C>T was detected in only affected members and generated a premature stop codon in APC.
|
24735542 |
2014 |
|
rs876659661
|
|
Adenomatous Polyposis Coli
|
|
0.010 |
GeneticVariation
|
BEFREE |
In them, 2 rare variants (c.694C>T in APC and c.1690A>G in MSH2) might be the putative causal mutations for familial adenomatous polyposis (FAP) since the rarity of the mutated allele in normal controls. c.694C>T was detected in only affected members and generated a premature stop codon in APC.
|
24735542 |
2014 |
|
rs1801155
|
|
Adenomatous Polyposis Coli
|
|
0.060 |
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 |